gn_response.json

{
  "variant": "6:g.37282286_37282287del",
  "originalVariantQuery": "6:g.37282286_37282287del",
  "hgvsg": "6:g.37282286_37282287del",
  "id": "6:g.37282286_37282287del",
  "assembly_name": "GRCh37",
  "seq_region_name": "6",
  "start": 37282286,
  "end": 37282287,
  "allele_string": "AA/-",
  "strand": 1,
  "most_severe_consequence": "intron_variant",
  "transcript_consequences": [
    {
      "transcript_id": "ENST00000373491",
      "hgvsc": "ENST00000373491.3:c.1165+619_1165+620del",
      "variant_allele": "-",
      "protein_id": "ENSP00000362590",
      "gene_symbol": "TBC1D22B",
      "gene_id": "ENSG00000065491",
      "hgnc_id": "21602",
      "canonical": "1",
      "refseq_transcript_ids": [
        "NM_017772.2"
      ],
      "consequence_terms": [
        "intron_variant"
      ]
    }
  ],
  "successfully_annotated": true,
  "annotation_summary": {
    "variant": "6:g.37282286_37282287del",
    "genomicLocation": {
      "chromosome": "6",
      "start": 37282286,
      "end": 37282287,
      "referenceAllele": "AA",
      "variantAllele": "-"
    },
    "strandSign": "+",
    "variantType": "DEL",
    "assemblyName": "GRCh37",
    "canonicalTranscriptId": "ENST00000373491",
    "transcriptConsequences": [
      {
        "transcriptId": "ENST00000373491",
        "entrezGeneId": "55633",
        "consequenceTerms": "intron_variant",
        "hugoGeneSymbol": "TBC1D22B",
        "hgvspShort": "p.*389*",
        "hgvsc": "ENST00000373491.3:c.1165+619_1165+620del",
        "refSeq": "NM_017772.2",
        "variantClassification": "Intron",
        "uniprotId": "Q9NU19"
      }
    ],
    "transcriptConsequenceSummaries": [
      {
        "transcriptId": "ENST00000373491",
        "entrezGeneId": "55633",
        "consequenceTerms": "intron_variant",
        "hugoGeneSymbol": "TBC1D22B",
        "hgvspShort": "p.*389*",
        "hgvsc": "ENST00000373491.3:c.1165+619_1165+620del",
        "refSeq": "NM_017772.2",
        "variantClassification": "Intron",
        "uniprotId": "Q9NU19"
      }
    ],
    "transcriptConsequenceSummary": {
      "transcriptId": "ENST00000373491",
      "entrezGeneId": "55633",
      "consequenceTerms": "intron_variant",
      "hugoGeneSymbol": "TBC1D22B",
      "hgvspShort": "p.*389*",
      "hgvsc": "ENST00000373491.3:c.1165+619_1165+620del",
      "refSeq": "NM_017772.2",
      "variantClassification": "Intron",
      "uniprotId": "Q9NU19"
    }
  }
}