{
  "meta": {
    "data_length": 1,
    "message": "Biomarker id bmkr:122 retrieved successfully",
    "request_url": "http://api.moalmanac.org/biomarkers?biomarker_id=bmkr%3A122",
    "status": "success",
    "status_code": 200,
    "timestamp_elapsed": 0.001574,
    "timestamp_received": "2026-09-25T00:13:44.044199+00:00Z",
    "timestamp_returned": "2026-09-25T00:13:44.045773+00:00Z",
    "trace_id": "58b6e48a-8d64-4644-842d-8e7f92c717a6"
  },
  "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:122",
      "type": "CategoricalVariant",
      "name": "KIT p.D816V",
      "constraints": [
        {
          "type": "DefiningAlleleConstraint",
          "allele": {
            "id": "ga4gh:VA.nhiDwIq1klrGm3wtWO4a4BiS0jdW79Wd",
            "type": "Allele",
            "name": "NP_000213.1:p.Asp816Val",
            "aliases": [
              "NP_000213.1:p.D816V",
              "KIT p.D816V"
            ],
            "description": "VRS variation of NP_000213.1:p.Asp816Val",
            "digest": "nhiDwIq1klrGm3wtWO4a4BiS0jdW79Wd",
            "expressions": [
              {
                "syntax": "hgvs.p",
                "value": "NP_000213.1:p.Asp816Val",
                "extensions": [
                  {
                    "name": "hgvs.p_short",
                    "value": "p.D816V"
                  }
                ]
              }
            ],
            "location": {
              "id": "ga4gh:SL.FDPpCHrDqH_pR10oxpHZ17tyGhZXVnsj",
              "type": "SequenceLocation",
              "name": null,
              "aliases": [],
              "description": "Amino acid position 816 of the Refseq protein NP_000213.1, which is the protein product of the MANE Select coding transcript for KIT (refseq:NM_000222.3).",
              "digest": "FDPpCHrDqH_pR10oxpHZ17tyGhZXVnsj",
              "sequenceReference": {
                "id": "ga4gh:SQ.TcMVFj5kDODDWpiy1d_1-3_gOf4BYaAB",
                "type": "SequenceReference",
                "name": "NP_000213.1",
                "aliases": [
                  "ensembl:ENSP00000288135.5",
                  "ga4gh:SQ.TcMVFj5kDODDWpiy1d_1-3_gOf4BYaAB",
                  "refseq:NP_000213.1"
                ],
                "description": "The protein product of the MANE Select coding transcript for KIT (refseq:NM_000222.3), corresponding to the Refseq protein accession NP_000213.1.",
                "moleculeType": "protein",
                "refgetAccession": "SQ.TcMVFj5kDODDWpiy1d_1-3_gOf4BYaAB",
                "residueAlphabet": "aa"
              },
              "start": 815,
              "end": 816,
              "sequence": "D"
            },
            "state": {
              "type": "LiteralSequenceExpression",
              "sequence": "V"
            }
          },
          "relations": []
        },
        {
          "type": "FeatureContextConstraint",
          "featureContext": {
            "id": "gene:hgnc:6342",
            "conceptType": "Gene",
            "name": "KIT",
            "primaryCoding": {
              "id": "coding:hgnc:6342",
              "code": "HGNC:6342",
              "system": "https://genenames.org",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6342"
              ]
            },
            "mappings": [
              {
                "relation": "exactMatch",
                "coding": {
                  "id": "coding:ensembl:ensg00000157404",
                  "code": "ENSG00000157404",
                  "system": "https://www.ensembl.org",
                  "iris": [
                    "https://www.ensembl.org/id/ENSG00000157404"
                  ]
                }
              },
              {
                "relation": "exactMatch",
                "coding": {
                  "id": "coding:ncbi:3815",
                  "code": "3815",
                  "system": "https://www.ncbi.nlm.nih.gov/gene",
                  "iris": [
                    "https://www.ncbi.nlm.nih.gov/gene/3815"
                  ]
                }
              },
              {
                "relation": "relatedMatch",
                "coding": {
                  "id": "coding:refseq:NM_000222.3",
                  "code": "NM_000222.3",
                  "system": "https://www.ncbi.nlm.nih.gov/nuccore",
                  "iris": [
                    "https://www.ncbi.nlm.nih.gov/nuccore/NM_000222.3"
                  ]
                }
              }
            ]
          }
        }
      ],
      "extensions": [
        {
          "name": "biomarker_type",
          "value": "Somatic variant"
        },
        {
          "name": "chromosome",
          "value": "4"
        },
        {
          "name": "start_position",
          "value": 55599321
        },
        {
          "name": "end_position",
          "value": 55599321
        },
        {
          "name": "reference_allele",
          "value": "A"
        },
        {
          "name": "alternate_allele",
          "value": "T"
        },
        {
          "name": "cdna_change",
          "value": "c.2447A>T"
        },
        {
          "name": "protein_change",
          "value": "p.D816V"
        },
        {
          "name": "variant_annotation",
          "value": "Missense"
        },
        {
          "name": "exon",
          "value": 17
        },
        {
          "name": "rsid",
          "value": "rs121913507"
        },
        {
          "name": "hgvsg",
          "value": "4:g.55599321A>T"
        },
        {
          "name": "hgvsc",
          "value": "ENST00000288135.5:c.2447A>T"
        }
      ]
    }
  ]
}