{
  "meta": {
    "data_length": 1,
    "message": "Biomarker id bmkr:102 retrieved successfully",
    "request_url": "http://api.moalmanac.org/biomarkers?biomarker_id=bmkr%3A102",
    "status": "success",
    "status_code": 200,
    "timestamp_elapsed": 0.001597,
    "timestamp_received": "2026-09-25T00:13:35.351901+00:00Z",
    "timestamp_returned": "2026-09-25T00:13:35.353498+00:00Z",
    "trace_id": "424e2fcf-45b8-4b3c-8242-1d0308077dd6"
  },
  "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:102",
      "type": "CategoricalVariant",
      "name": "FGFR3 p.Y373C",
      "constraints": [
        {
          "type": "DefiningAlleleConstraint",
          "allele": {
            "id": "ga4gh:VA.UHA6S3oE8Ts_WI51w5noSpXhSlvNEjHu",
            "type": "Allele",
            "name": "NP_000133.1:p.Tyr373Cys",
            "aliases": [
              "NP_000133.1:p.Y373C",
              "FGFR3 p.Y373C"
            ],
            "description": "VRS variation of NP_000133.1:p.Tyr373Cys",
            "digest": "UHA6S3oE8Ts_WI51w5noSpXhSlvNEjHu",
            "expressions": [
              {
                "syntax": "hgvs.p",
                "value": "NP_000133.1:p.Tyr373Cys",
                "extensions": [
                  {
                    "name": "hgvs.p_short",
                    "value": "p.Y373C"
                  }
                ]
              }
            ],
            "location": {
              "id": "ga4gh:SL.g33H1Cf5jJONJO2upu64mfFipyfSK6MZ",
              "type": "SequenceLocation",
              "name": null,
              "aliases": [],
              "description": "Amino acid position 373 of the Refseq protein NP_000133.1, which is the protein product of the MANE Select coding transcript for FGFR3 (refseq:NM_000142.5).",
              "digest": "g33H1Cf5jJONJO2upu64mfFipyfSK6MZ",
              "sequenceReference": {
                "id": "ga4gh:SQ.xO86teDIIalLkqprCQaXyuvdPqvBxBG3",
                "type": "SequenceReference",
                "name": "NP_000133.1",
                "aliases": [
                  "ensembl:ENSP00000260795.2",
                  "ga4gh:SQ.xO86teDIIalLkqprCQaXyuvdPqvBxBG3",
                  "refseq:NP_000133.1"
                ],
                "description": "The protein product of the MANE Select coding transcript for FGFR3 (refseq:NM_000142.5), corresponding to the Refseq protein accession NP_000133.1.",
                "moleculeType": "protein",
                "refgetAccession": "SQ.xO86teDIIalLkqprCQaXyuvdPqvBxBG3",
                "residueAlphabet": "aa"
              },
              "start": 372,
              "end": 373,
              "sequence": "Y"
            },
            "state": {
              "type": "LiteralSequenceExpression",
              "sequence": "C"
            }
          },
          "relations": []
        },
        {
          "type": "FeatureContextConstraint",
          "featureContext": {
            "id": "gene:hgnc:3690",
            "conceptType": "Gene",
            "name": "FGFR3",
            "primaryCoding": {
              "id": "coding:hgnc:3690",
              "code": "HGNC:3690",
              "system": "https://genenames.org",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3690"
              ]
            },
            "mappings": [
              {
                "relation": "exactMatch",
                "coding": {
                  "id": "coding:ensembl:ensg00000068078",
                  "code": "ENSG00000068078",
                  "system": "https://www.ensembl.org",
                  "iris": [
                    "https://www.ensembl.org/id/ENSG00000068078"
                  ]
                }
              },
              {
                "relation": "exactMatch",
                "coding": {
                  "id": "coding:ncbi:2261",
                  "code": "2261",
                  "system": "https://www.ncbi.nlm.nih.gov/gene",
                  "iris": [
                    "https://www.ncbi.nlm.nih.gov/gene/2261"
                  ]
                }
              },
              {
                "relation": "relatedMatch",
                "coding": {
                  "id": "coding:refseq:NM_000142.5",
                  "code": "NM_000142.5",
                  "system": "https://www.ncbi.nlm.nih.gov/nuccore",
                  "iris": [
                    "https://www.ncbi.nlm.nih.gov/nuccore/NM_000142.5"
                  ]
                }
              }
            ]
          }
        }
      ],
      "extensions": [
        {
          "name": "biomarker_type",
          "value": "Somatic variant"
        },
        {
          "name": "chromosome",
          "value": "4"
        },
        {
          "name": "start_position",
          "value": 1806099
        },
        {
          "name": "end_position",
          "value": 1806099
        },
        {
          "name": "reference_allele",
          "value": "A"
        },
        {
          "name": "alternate_allele",
          "value": "G"
        },
        {
          "name": "cdna_change",
          "value": "c.1118A>G"
        },
        {
          "name": "protein_change",
          "value": "p.Y373C"
        },
        {
          "name": "variant_annotation",
          "value": "Missense"
        },
        {
          "name": "exon",
          "value": 8
        },
        {
          "name": "rsid",
          "value": "rs121913485"
        },
        {
          "name": "hgvsg",
          "value": "4:g.1806099A>G"
        },
        {
          "name": "hgvsc",
          "value": "ENST00000260795.2:c.1118A>G"
        }
      ]
    }
  ]
}