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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: 17-58696768-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58696768&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 58696768,
      "ref": "A",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_058216.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.480A>C",
          "hgvs_p": "p.Thr160Thr",
          "transcript": "NM_058216.3",
          "protein_id": "NP_478123.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 376,
          "cds_start": 480,
          "cds_end": null,
          "cds_length": 1131,
          "cdna_start": 522,
          "cdna_end": null,
          "cdna_length": 2562,
          "mane_select": "ENST00000337432.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.480A>C",
          "hgvs_p": "p.Thr160Thr",
          "transcript": "ENST00000337432.9",
          "protein_id": "ENSP00000336701.4",
          "transcript_support_level": 1,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 376,
          "cds_start": 480,
          "cds_end": null,
          "cds_length": 1131,
          "cdna_start": 522,
          "cdna_end": null,
          "cdna_length": 2562,
          "mane_select": "NM_058216.3",
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "n.404+1579A>C",
          "hgvs_p": null,
          "transcript": "ENST00000482007.5",
          "protein_id": "ENSP00000433332.1",
          "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": 1098,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.480A>C",
          "hgvs_p": "p.Thr160Thr",
          "transcript": "ENST00000583539.5",
          "protein_id": "ENSP00000463121.1",
          "transcript_support_level": 2,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": 480,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": 551,
          "cdna_end": null,
          "cdna_length": 1319,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.480A>C",
          "hgvs_p": "p.Thr160Thr",
          "transcript": "ENST00000697690.1",
          "protein_id": "ENSP00000513399.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 305,
          "cds_start": 480,
          "cds_end": null,
          "cds_length": 918,
          "cdna_start": 522,
          "cdna_end": null,
          "cdna_length": 1375,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.129A>C",
          "hgvs_p": "p.Thr43Thr",
          "transcript": "ENST00000697686.1",
          "protein_id": "ENSP00000513397.1",
          "transcript_support_level": null,
          "aa_start": 43,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 129,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 372,
          "cdna_end": null,
          "cdna_length": 1400,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.129A>C",
          "hgvs_p": "p.Thr43Thr",
          "transcript": "ENST00000697694.1",
          "protein_id": "ENSP00000513402.1",
          "transcript_support_level": null,
          "aa_start": 43,
          "aa_end": null,
          "aa_length": 259,
          "cds_start": 129,
          "cds_end": null,
          "cds_length": 780,
          "cdna_start": 572,
          "cdna_end": null,
          "cdna_length": 1618,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.117A>C",
          "hgvs_p": "p.Thr39Thr",
          "transcript": "ENST00000413590.5",
          "protein_id": "ENSP00000401741.1",
          "transcript_support_level": 2,
          "aa_start": 39,
          "aa_end": null,
          "aa_length": 256,
          "cds_start": 117,
          "cds_end": null,
          "cds_length": 771,
          "cdna_start": 118,
          "cdna_end": null,
          "cdna_length": 779,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.129A>C",
          "hgvs_p": "p.Thr43Thr",
          "transcript": "ENST00000461271.6",
          "protein_id": "ENSP00000464056.2",
          "transcript_support_level": 5,
          "aa_start": 43,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 129,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": 448,
          "cdna_end": null,
          "cdna_length": 2761,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.276A>C",
          "hgvs_p": "p.Thr92Thr",
          "transcript": "ENST00000425173.5",
          "protein_id": "ENSP00000407282.1",
          "transcript_support_level": 5,
          "aa_start": 92,
          "aa_end": null,
          "aa_length": 212,
          "cds_start": 276,
          "cds_end": null,
          "cds_length": 639,
          "cdna_start": 276,
          "cdna_end": null,
          "cdna_length": 639,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.216A>C",
          "hgvs_p": "p.Thr72Thr",
          "transcript": "ENST00000622327.4",
          "protein_id": "ENSP00000482326.1",
          "transcript_support_level": 3,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 131,
          "cds_start": 216,
          "cds_end": null,
          "cds_length": 396,
          "cdna_start": 216,
          "cdna_end": null,
          "cdna_length": 686,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.480A>C",
          "hgvs_p": "p.Thr160Thr",
          "transcript": "XM_006722001.5",
          "protein_id": "XP_006722064.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 480,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": 522,
          "cdna_end": null,
          "cdna_length": 2565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.480A>C",
          "hgvs_p": "p.Thr160Thr",
          "transcript": "XM_006722002.5",
          "protein_id": "XP_006722065.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 342,
          "cds_start": 480,
          "cds_end": null,
          "cds_length": 1029,
          "cdna_start": 522,
          "cdna_end": null,
          "cdna_length": 2501,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.129A>C",
          "hgvs_p": "p.Thr43Thr",
          "transcript": "XM_006722004.4",
          "protein_id": "XP_006722067.1",
          "transcript_support_level": null,
          "aa_start": 43,
          "aa_end": null,
          "aa_length": 260,
          "cds_start": 129,
          "cds_end": null,
          "cds_length": 783,
          "cdna_start": 448,
          "cdna_end": null,
          "cdna_length": 2491,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.129A>C",
          "hgvs_p": "p.Thr43Thr",
          "transcript": "XM_011525094.3",
          "protein_id": "XP_011523396.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 260,
          "cds_start": 129,
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          "cds_length": 783,
          "cdna_start": 498,
          "cdna_end": null,
          "cdna_length": 2541,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "c.480A>C",
          "hgvs_p": "p.Thr160Thr",
          "transcript": "XM_047436505.1",
          "protein_id": "XP_047292461.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 239,
          "cds_start": 480,
          "cds_end": null,
          "cds_length": 720,
          "cdna_start": 522,
          "cdna_end": null,
          "cdna_length": 887,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "n.*1183A>C",
          "hgvs_p": null,
          "transcript": "ENST00000475762.5",
          "protein_id": "ENSP00000432421.1",
          "transcript_support_level": 2,
          "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": 2077,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "n.392A>C",
          "hgvs_p": null,
          "transcript": "ENST00000487921.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 653,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "n.*59A>C",
          "hgvs_p": null,
          "transcript": "ENST00000584617.5",
          "protein_id": "ENSP00000463473.1",
          "transcript_support_level": 5,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 723,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "n.3077A>C",
          "hgvs_p": null,
          "transcript": "ENST00000697675.1",
          "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": 3667,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "n.540A>C",
          "hgvs_p": null,
          "transcript": "ENST00000697676.1",
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          "transcript": "ENST00000697689.1",
          "protein_id": "ENSP00000513398.1",
          "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": 1836,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "RAD51C",
          "gene_hgnc_id": 9820,
          "hgvs_c": "n.446+1579A>C",
          "hgvs_p": null,
          "transcript": "NR_103872.2",
          "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": 2395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "RAD51C",
      "gene_hgnc_id": 9820,
      "dbsnp": "rs1060504670",
      "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": -0.6399999856948853,
      "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": -0.64,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.183,
      "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": -11,
      "acmg_classification": "Benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -11,
          "benign_score": 13,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7"
          ],
          "verdict": "Benign",
          "transcript": "NM_058216.3",
          "gene_symbol": "RAD51C",
          "hgnc_id": 9820,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.480A>C",
          "hgvs_p": "p.Thr160Thr"
        }
      ],
      "clinvar_disease": " 3, familial, susceptibility to,Breast-ovarian cancer,Fanconi anemia complementation group O,Hereditary cancer-predisposing syndrome",
      "clinvar_classification": "Benign/Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2 B:1",
      "phenotype_combined": "Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O|Breast-ovarian cancer, familial, susceptibility to, 3",
      "pathogenicity_classification_combined": "Benign/Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}