Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

## : Find Subject Molecular Consequences - XML Representation

Page standards status: Trial-use | Maturity Level: 2

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    <OperationDefinition xmlns="http://hl7.org/fhir">
      <id value="find-subject-molecular-consequences"/>
      <text>
        <status value="generated"/>
        <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: OperationDefinition find-subject-molecular-consequences</b></p><a name="find-subject-molecular-consequences"> </a><a name="hcfind-subject-molecular-consequences"> </a><h3>Parameters</h3><table class="grid"><tr><td><b>Use</b></td><td><b>Name</b></td><td><b>Scope</b></td><td><b>Cardinality</b></td><td><b>Type</b></td><td><b>Binding</b></td><td><b>Documentation</b></td></tr><tr><td>IN</td><td>subject</td><td/><td>1..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#reference">reference</a>)</td><td/><td><div><p>The subject of interest.</p>
    </div></td></tr><tr><td>IN</td><td>variants</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#string">string</a>)</td><td/><td><div><p>List of variants from which consequences are derived. Must be in HGVS or SPDI format.</p>
    </div></td></tr><tr><td>IN</td><td>ranges</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#special">special</a>)</td><td/><td><div><p>List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820').</p>
    </div></td></tr><tr><td>IN</td><td>featureConsequences</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>List of consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537)</p>
    </div></td></tr><tr><td>IN</td><td>testIdentifiers</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>Supply a list of test identifiers. Only results originating from one of these tests will be returned.</p>
    </div></td></tr><tr><td>IN</td><td>testDateRange</td><td/><td>0..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#Period">Period</a></td><td/><td><div><p>Supply a date range. Only results generated during this range will be returned.</p>
    </div></td></tr><tr><td>IN</td><td>specimenIdentifiers</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned.</p>
    </div></td></tr><tr><td>IN</td><td>genomicSourceClass</td><td/><td>0..1</td><td><a href="http://hl7.org/fhir/R4/datatypes.html#string">string</a><br/>(<a href="https://hl7.org/fhir/R4/search.html#token">token</a>)</td><td/><td><div><p>Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class.</p>
    </div></td></tr><tr><td>OUT</td><td>consequence</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/observation.html">Observation</a></td><td/><td><div><p>Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence's derivedFrom shall also be included in the response.</p>
    </div></td></tr><tr><td>OUT</td><td>variant</td><td/><td>0..*</td><td><a href="http://hl7.org/fhir/R4/observation.html">Observation</a></td><td/><td><div><p>Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant].</p>
    </div></td></tr></table></div>
      </text>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
        <valueCode value="cg"/>
      </extension>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
        <valueInteger value="2">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueInteger>
      </extension>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
        <valueCode value="trial-use">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueCode>
      </extension>
      <url
           value="http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-subject-molecular-consequences"/>
      <version value="4.0.0-cibuild"/>
      <name value="FindSubjectMolecularConsequences"/>
      <title value="Find Subject Molecular Consequences"/>
      <status value="active"/>
      <kind value="operation"/>
      <date value="2025-11-08T00:09:50+00:00"/>
      <publisher value="HL7 International / Clinical Genomics"/>
      <contact>
        <name value="HL7 International / Clinical Genomics"/>
        <telecom>
          <system value="url"/>
          <value value="http://www.hl7.org/Special/committees/clingenomics"/>
        </telecom>
        <telecom>
          <system value="email"/>
          <value value="cg@lists.HL7.org"/>
        </telecom>
      </contact>
      <description value="Retrieves molecular consequences of a DNA variant."/>
      <jurisdiction>
        <coding>
          <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
          <code value="001"/>
          <display value="World"/>
        </coding>
      </jurisdiction>
      <code value="match"/>
      <system value="false"/>
      <type value="true"/>
      <instance value="false"/>
      <parameter>
        <name value="subject"/>
        <use value="in"/>
        <min value="1"/>
        <max value="1"/>
        <documentation value="The subject of interest."/>
        <type value="string"/>
        <searchType value="reference"/>
      </parameter>
      <parameter>
        <name value="variants"/>
        <use value="in"/>
        <min value="0"/>
        <max value="*"/>
        <documentation
                       value="List of variants from which consequences are derived. Must be in HGVS or SPDI format."/>
        <type value="string"/>
        <searchType value="string"/>
      </parameter>
      <parameter>
        <name value="ranges"/>
        <use value="in"/>
        <min value="0"/>
        <max value="*"/>
        <documentation
                       value="List of regions to be searched for variants. Must be in zero-based RefSeq:Integer-range format (e.g. 'NC_000007.14:55174721-55174820')."/>
        <type value="string"/>
        <searchType value="special"/>
      </parameter>
      <parameter>
        <name value="featureConsequences"/>
        <use value="in"/>
        <min value="0"/>
        <max value="*"/>
        <documentation
                       value="List of consequences sought. Must be in token or codesystem|code format. (These will generally be coded with Sequence Ontology codes under SO:0001537)"/>
        <type value="string"/>
        <searchType value="token"/>
      </parameter>
      <parameter>
        <name value="testIdentifiers"/>
        <use value="in"/>
        <min value="0"/>
        <max value="*"/>
        <documentation
                       value="Supply a list of test identifiers. Only results originating from one of these tests will be returned."/>
        <type value="string"/>
        <searchType value="token"/>
      </parameter>
      <parameter>
        <name value="testDateRange"/>
        <use value="in"/>
        <min value="0"/>
        <max value="1"/>
        <documentation
                       value="Supply a date range. Only results generated during this range will be returned."/>
        <type value="Period"/>
      </parameter>
      <parameter>
        <name value="specimenIdentifiers"/>
        <use value="in"/>
        <min value="0"/>
        <max value="*"/>
        <documentation
                       value="Supply a list of specimen identifiers. Only results derived from one of these specimens will be returned."/>
        <type value="string"/>
        <searchType value="token"/>
      </parameter>
      <parameter>
        <name value="genomicSourceClass"/>
        <use value="in"/>
        <min value="0"/>
        <max value="1"/>
        <documentation
                       value="Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class."/>
        <type value="string"/>
        <searchType value="token"/>
      </parameter>
      <parameter>
        <extension
                   url="http://hl7.org/fhir/StructureDefinition/operationdefinition-profile">
          <valueUri
                    value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence"/>
        </extension>
        <name value="consequence"/>
        <use value="out"/>
        <min value="0"/>
        <max value="*"/>
        <documentation
                       value="Consequences must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence]. The target(s) of the consequence's derivedFrom shall also be included in the response."/>
        <type value="Observation"/>
      </parameter>
      <parameter>
        <extension
                   url="http://hl7.org/fhir/StructureDefinition/operationdefinition-profile">
          <valueUri
                    value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"/>
        </extension>
        <name value="variant"/>
        <use value="out"/>
        <min value="0"/>
        <max value="*"/>
        <documentation
                       value="Variants must conform to [Profile: http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant]."/>
        <type value="Observation"/>
      </parameter>
    </OperationDefinition>