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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 22-29673361-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29673361&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 29673361,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000338641.10",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1215T>C",
          "hgvs_p": "p.Ala405Ala",
          "transcript": "NM_000268.4",
          "protein_id": "NP_000259.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 595,
          "cds_start": 1215,
          "cds_end": null,
          "cds_length": 1788,
          "cdna_start": 1581,
          "cdna_end": null,
          "cdna_length": 5950,
          "mane_select": "ENST00000338641.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1215T>C",
          "hgvs_p": "p.Ala405Ala",
          "transcript": "ENST00000338641.10",
          "protein_id": "ENSP00000344666.5",
          "transcript_support_level": 1,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 595,
          "cds_start": 1215,
          "cds_end": null,
          "cds_length": 1788,
          "cdna_start": 1581,
          "cdna_end": null,
          "cdna_length": 5950,
          "mane_select": "NM_000268.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1215T>C",
          "hgvs_p": "p.Ala405Ala",
          "transcript": "ENST00000397789.3",
          "protein_id": "ENSP00000380891.3",
          "transcript_support_level": 1,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1215,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": 1215,
          "cdna_end": null,
          "cdna_length": 1857,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1215T>C",
          "hgvs_p": "p.Ala405Ala",
          "transcript": "ENST00000403999.7",
          "protein_id": "ENSP00000384797.3",
          "transcript_support_level": 1,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1215,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": 1581,
          "cdna_end": null,
          "cdna_length": 2999,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1080T>C",
          "hgvs_p": "p.Ala360Ala",
          "transcript": "ENST00000361166.10",
          "protein_id": "ENSP00000354529.6",
          "transcript_support_level": 1,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 1080,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": 1446,
          "cdna_end": null,
          "cdna_length": 2276,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1092T>C",
          "hgvs_p": "p.Ala364Ala",
          "transcript": "ENST00000361452.8",
          "protein_id": "ENSP00000354897.4",
          "transcript_support_level": 1,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 549,
          "cds_start": 1092,
          "cds_end": null,
          "cds_length": 1650,
          "cdna_start": 1474,
          "cdna_end": null,
          "cdna_length": 5884,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1089T>C",
          "hgvs_p": "p.Ala363Ala",
          "transcript": "ENST00000361676.8",
          "protein_id": "ENSP00000355183.4",
          "transcript_support_level": 1,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 1089,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": 1089,
          "cdna_end": null,
          "cdna_length": 1716,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.966T>C",
          "hgvs_p": "p.Ala322Ala",
          "transcript": "ENST00000334961.11",
          "protein_id": "ENSP00000335652.7",
          "transcript_support_level": 1,
          "aa_start": 322,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 966,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": 1238,
          "cdna_end": null,
          "cdna_length": 2020,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.966T>C",
          "hgvs_p": "p.Ala322Ala",
          "transcript": "ENST00000353887.8",
          "protein_id": "ENSP00000340626.4",
          "transcript_support_level": 1,
          "aa_start": 322,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 966,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": 1218,
          "cdna_end": null,
          "cdna_length": 1845,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.448-21391T>C",
          "hgvs_p": null,
          "transcript": "ENST00000413209.6",
          "protein_id": "ENSP00000409921.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 165,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 498,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4733,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "n.523-1475T>C",
          "hgvs_p": null,
          "transcript": "ENST00000432151.5",
          "protein_id": "ENSP00000395885.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1000,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1215T>C",
          "hgvs_p": "p.Ala405Ala",
          "transcript": "NM_001407066.1",
          "protein_id": "NP_001393995.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1215,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": 1581,
          "cdna_end": null,
          "cdna_length": 2623,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1215T>C",
          "hgvs_p": "p.Ala405Ala",
          "transcript": "NM_016418.5",
          "protein_id": "NP_057502.2",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1215,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": 1658,
          "cdna_end": null,
          "cdna_length": 6074,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1215T>C",
          "hgvs_p": "p.Ala405Ala",
          "transcript": "NM_181825.3",
          "protein_id": "NP_861546.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1215,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": 1581,
          "cdna_end": null,
          "cdna_length": 2999,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1215T>C",
          "hgvs_p": "p.Ala405Ala",
          "transcript": "NM_181832.3",
          "protein_id": "NP_861970.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1215,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": 1581,
          "cdna_end": null,
          "cdna_length": 6010,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1215T>C",
          "hgvs_p": "p.Ala405Ala",
          "transcript": "ENST00000672896.1",
          "protein_id": "ENSP00000500117.1",
          "transcript_support_level": null,
          "aa_start": 405,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1215,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": 1581,
          "cdna_end": null,
          "cdna_length": 5995,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1128T>C",
          "hgvs_p": "p.Ala376Ala",
          "transcript": "ENST00000403435.5",
          "protein_id": "ENSP00000384029.1",
          "transcript_support_level": 5,
          "aa_start": 376,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 1128,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": 1539,
          "cdna_end": null,
          "cdna_length": 2568,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1101T>C",
          "hgvs_p": "p.Ala367Ala",
          "transcript": "NM_001407053.1",
          "protein_id": "NP_001393982.1",
          "transcript_support_level": null,
          "aa_start": 367,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 1101,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": 1697,
          "cdna_end": null,
          "cdna_length": 6066,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1092T>C",
          "hgvs_p": "p.Ala364Ala",
          "transcript": "NM_001407054.1",
          "protein_id": "NP_001393983.1",
          "transcript_support_level": null,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 554,
          "cds_start": 1092,
          "cds_end": null,
          "cds_length": 1665,
          "cdna_start": 1458,
          "cdna_end": null,
          "cdna_length": 5827,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1089T>C",
          "hgvs_p": "p.Ala363Ala",
          "transcript": "NM_001407055.1",
          "protein_id": "NP_001393984.1",
          "transcript_support_level": null,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 553,
          "cds_start": 1089,
          "cds_end": null,
          "cds_length": 1662,
          "cdna_start": 1455,
          "cdna_end": null,
          "cdna_length": 5824,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.1101T>C",
          "hgvs_p": "p.Ala367Ala",
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            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "c.448-21391T>C",
          "hgvs_p": null,
          "transcript": "NM_181833.3",
          "protein_id": "NP_861971.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 165,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 498,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4660,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "NF2",
          "gene_hgnc_id": 7773,
          "hgvs_c": "n.889-1475T>C",
          "hgvs_p": null,
          "transcript": "NR_176267.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4969,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "NF2",
      "gene_hgnc_id": 7773,
      "dbsnp": "rs772219612",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8399999737739563,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -4.711,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 7,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000338641.10",
          "gene_symbol": "NF2",
          "hgnc_id": 7773,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.1215T>C",
          "hgvs_p": "p.Ala405Ala"
        }
      ],
      "clinvar_disease": "Hereditary cancer-predisposing syndrome",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Hereditary cancer-predisposing syndrome",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}