{
  "meta": {
    "data_length": 1,
    "message": "Biomarker id bmkr:92 retrieved successfully",
    "request_url": "http://api.moalmanac.org/biomarkers?biomarker_id=bmkr%3A92",
    "status": "success",
    "status_code": 200,
    "timestamp_elapsed": 0.001541,
    "timestamp_received": "2026-09-25T00:13:22.995355+00:00Z",
    "timestamp_returned": "2026-09-25T00:13:22.996896+00:00Z",
    "trace_id": "6c2fcce6-c8f3-46b2-bdf0-05f15f0ab41b"
  },
  "service": {
    "github": "https://github.com/vanallenlab/moalmanac-db",
    "name": "Molecular Oncology Almanac",
    "license": "GPL-2.0",
    "release": "draft",
    "url": "https://dev.moalmanac.org",
    "last_updated": "2026-08-02"
  },
  "data": [
    {
      "id": "bmkr:92",
      "type": "CategoricalVariant",
      "name": "PTEN frameshift variants",
      "constraints": [
        {
          "type": "DefiningLocationConstraint",
          "location": {
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            "type": "SequenceLocation",
            "name": null,
            "aliases": [],
            "description": "Sequence spanning the length of refseq:NP_000305.3, the protein product of the MANE Select coding transcript for PTEN (refseq:NM_000314.8).",
            "digest": "5kExsmdkOdE1VWYizZa6XvHzdRa8f67s",
            "sequenceReference": {
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              "type": "SequenceReference",
              "name": "NP_000305.3",
              "aliases": [
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                "ga4gh:SQ.w7LxW0PSaVPNsPFvOL24weFjHcfaHyOi",
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              ],
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              "moleculeType": "protein",
              "refgetAccession": "SQ.w7LxW0PSaVPNsPFvOL24weFjHcfaHyOi",
              "residueAlphabet": "aa"
            },
            "start": 0,
            "end": 403,
            "sequence": null
          },
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          "matchCharacteristic": {
            "primaryCoding": {
              "code": "is_within",
              "system": "ga4gh-gks-term:location-match"
            }
          }
        },
        {
          "type": "FeatureContextConstraint",
          "featureContext": {
            "id": "gene:hgnc:9588",
            "conceptType": "Gene",
            "name": "PTEN",
            "primaryCoding": {
              "id": "coding:hgnc:9588",
              "code": "HGNC:9588",
              "system": "https://genenames.org",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9588"
              ]
            },
            "mappings": [
              {
                "relation": "exactMatch",
                "coding": {
                  "id": "coding:ensembl:ensg00000171862",
                  "code": "ENSG00000171862",
                  "system": "https://www.ensembl.org",
                  "iris": [
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                  ]
                }
              },
              {
                "relation": "exactMatch",
                "coding": {
                  "id": "coding:ncbi:5728",
                  "code": "5728",
                  "system": "https://www.ncbi.nlm.nih.gov/gene",
                  "iris": [
                    "https://www.ncbi.nlm.nih.gov/gene/5728"
                  ]
                }
              },
              {
                "relation": "relatedMatch",
                "coding": {
                  "id": "coding:refseq:NM_000314.8",
                  "code": "NM_000314.8",
                  "system": "https://www.ncbi.nlm.nih.gov/nuccore",
                  "iris": [
                    "https://www.ncbi.nlm.nih.gov/nuccore/NM_000314.8"
                  ]
                }
              }
            ]
          }
        }
      ],
      "extensions": [
        {
          "name": "biomarker_type",
          "value": "Somatic variant"
        },
        {
          "name": "chromosome",
          "value": "10"
        },
        {
          "name": "start_position",
          "value": null
        },
        {
          "name": "end_position",
          "value": null
        },
        {
          "name": "reference_allele",
          "value": null
        },
        {
          "name": "alternate_allele",
          "value": null
        },
        {
          "name": "cdna_change",
          "value": null
        },
        {
          "name": "protein_change",
          "value": null
        },
        {
          "name": "variant_annotation",
          "value": "Frameshift"
        },
        {
          "name": "exon",
          "value": null
        },
        {
          "name": "rsid",
          "value": null
        },
        {
          "name": "hgvsg",
          "value": null
        },
        {
          "name": "hgvsc",
          "value": null
        },
        {
          "name": "requires_oncogenic",
          "value": true
        }
      ]
    }
  ]
}