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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: 17-40632312-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40632312&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 40632312,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000348513.12",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.597C>T",
          "hgvs_p": "p.Asn199Asn",
          "transcript": "NM_003079.5",
          "protein_id": "NP_003070.3",
          "transcript_support_level": null,
          "aa_start": 199,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": 597,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": 688,
          "cdna_end": null,
          "cdna_length": 5150,
          "mane_select": "ENST00000348513.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.597C>T",
          "hgvs_p": "p.Asn199Asn",
          "transcript": "ENST00000348513.12",
          "protein_id": "ENSP00000323967.6",
          "transcript_support_level": 1,
          "aa_start": 199,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": 597,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": 688,
          "cdna_end": null,
          "cdna_length": 5150,
          "mane_select": "NM_003079.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.387C>T",
          "hgvs_p": "p.Asn129Asn",
          "transcript": "ENST00000578044.6",
          "protein_id": "ENSP00000464511.1",
          "transcript_support_level": 1,
          "aa_start": 129,
          "aa_end": null,
          "aa_length": 341,
          "cds_start": 387,
          "cds_end": null,
          "cds_length": 1026,
          "cdna_start": 1065,
          "cdna_end": null,
          "cdna_length": 1704,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.492C>T",
          "hgvs_p": "p.Asn164Asn",
          "transcript": "ENST00000377808.9",
          "protein_id": "ENSP00000367039.4",
          "transcript_support_level": 1,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 492,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": 607,
          "cdna_end": null,
          "cdna_length": 2348,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.492C>T",
          "hgvs_p": "p.Asn164Asn",
          "transcript": "ENST00000580419.6",
          "protein_id": "ENSP00000462475.2",
          "transcript_support_level": 1,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 311,
          "cds_start": 492,
          "cds_end": null,
          "cds_length": 936,
          "cdna_start": 582,
          "cdna_end": null,
          "cdna_length": 2283,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.387C>T",
          "hgvs_p": "p.Asn129Asn",
          "transcript": "ENST00000400122.8",
          "protein_id": "ENSP00000411607.2",
          "transcript_support_level": 1,
          "aa_start": 129,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 387,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": 858,
          "cdna_end": null,
          "cdna_length": 2600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000264058",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000476049.1",
          "protein_id": "ENSP00000463483.1",
          "transcript_support_level": 5,
          "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": 2502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000264058",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000476049.1",
          "protein_id": "ENSP00000463483.1",
          "transcript_support_level": 5,
          "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": 2502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.597C>T",
          "hgvs_p": "p.Asn199Asn",
          "transcript": "ENST00000643683.1",
          "protein_id": "ENSP00000496094.1",
          "transcript_support_level": null,
          "aa_start": 199,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": 597,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": 831,
          "cdna_end": null,
          "cdna_length": 2492,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.543C>T",
          "hgvs_p": "p.Asn181Asn",
          "transcript": "ENST00000431889.6",
          "protein_id": "ENSP00000445370.1",
          "transcript_support_level": 2,
          "aa_start": 181,
          "aa_end": null,
          "aa_length": 393,
          "cds_start": 543,
          "cds_end": null,
          "cds_length": 1182,
          "cdna_start": 613,
          "cdna_end": null,
          "cdna_length": 1569,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.492C>T",
          "hgvs_p": "p.Asn164Asn",
          "transcript": "ENST00000647508.1",
          "protein_id": "ENSP00000496445.1",
          "transcript_support_level": null,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 376,
          "cds_start": 492,
          "cds_end": null,
          "cds_length": 1131,
          "cdna_start": 1135,
          "cdna_end": null,
          "cdna_length": 2840,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.597C>T",
          "hgvs_p": "p.Asn199Asn",
          "transcript": "ENST00000646482.1",
          "protein_id": "ENSP00000496661.1",
          "transcript_support_level": null,
          "aa_start": 199,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": 597,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": 631,
          "cdna_end": null,
          "cdna_length": 1320,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.597C>T",
          "hgvs_p": "p.Asn199Asn",
          "transcript": "ENST00000264640.9",
          "protein_id": "ENSP00000466608.2",
          "transcript_support_level": 3,
          "aa_start": 199,
          "aa_end": null,
          "aa_length": 363,
          "cds_start": 597,
          "cds_end": null,
          "cds_length": 1092,
          "cdna_start": 700,
          "cdna_end": null,
          "cdna_length": 2997,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.597C>T",
          "hgvs_p": "p.Asn199Asn",
          "transcript": "ENST00000447024.6",
          "protein_id": "ENSP00000392958.2",
          "transcript_support_level": 3,
          "aa_start": 199,
          "aa_end": null,
          "aa_length": 363,
          "cds_start": 597,
          "cds_end": null,
          "cds_length": 1092,
          "cdna_start": 712,
          "cdna_end": null,
          "cdna_length": 1973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.597C>T",
          "hgvs_p": "p.Asn199Asn",
          "transcript": "ENST00000644701.1",
          "protein_id": "ENSP00000496097.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 363,
          "cds_start": 597,
          "cds_end": null,
          "cds_length": 1092,
          "cdna_start": 707,
          "cdna_end": null,
          "cdna_length": 2488,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.387C>T",
          "hgvs_p": "p.Asn129Asn",
          "transcript": "ENST00000646283.1",
          "protein_id": "ENSP00000494537.1",
          "transcript_support_level": null,
          "aa_start": 129,
          "aa_end": null,
          "aa_length": 347,
          "cds_start": 387,
          "cds_end": null,
          "cds_length": 1044,
          "cdna_start": 560,
          "cdna_end": null,
          "cdna_length": 2229,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.387C>T",
          "hgvs_p": "p.Asn129Asn",
          "transcript": "ENST00000643318.1",
          "protein_id": "ENSP00000494771.1",
          "transcript_support_level": null,
          "aa_start": 129,
          "aa_end": null,
          "aa_length": 341,
          "cds_start": 387,
          "cds_end": null,
          "cds_length": 1026,
          "cdna_start": 1375,
          "cdna_end": null,
          "cdna_length": 5796,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.387C>T",
          "hgvs_p": "p.Asn129Asn",
          "transcript": "ENST00000644527.1",
          "protein_id": "ENSP00000493974.1",
          "transcript_support_level": null,
          "aa_start": 129,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": 387,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": 553,
          "cdna_end": null,
          "cdna_length": 2502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.492C>T",
          "hgvs_p": "p.Asn164Asn",
          "transcript": "ENST00000645104.1",
          "protein_id": "ENSP00000496311.1",
          "transcript_support_level": null,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 332,
          "cds_start": 492,
          "cds_end": null,
          "cds_length": 999,
          "cdna_start": 597,
          "cdna_end": null,
          "cdna_length": 2118,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCE1",
          "gene_hgnc_id": 11109,
          "hgvs_c": "c.387C>T",
          "hgvs_p": "p.Asn129Asn",
          "transcript": "ENST00000642459.1",
          "protein_id": "ENSP00000496546.1",
          "transcript_support_level": null,
          "aa_start": 129,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 387,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": 567,
          "cdna_end": null,
          "cdna_length": 2376,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "N",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
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        },
        {
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          ],
          "exon_rank": null,
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          "exon_count": 8,
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          "gene_symbol": "SMARCE1",
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          "hgvs_c": "n.332-619C>T",
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          "transcript": "ENST00000644909.1",
          "protein_id": "ENSP00000493649.1",
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        }
      ],
      "gene_symbol": "SMARCE1",
      "gene_hgnc_id": 11109,
      "dbsnp": "rs878854604",
      "frequency_reference_population": 0.0000013682399,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000136824,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.23499999940395355,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.235,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.34,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.709,
      "phylop100way_prediction": "Uncertain_significance",
      "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": -7,
      "acmg_classification": "Benign",
      "acmg_criteria": "PM2,BP4,BP6_Very_Strong",
      "acmg_by_gene": [
        {
          "score": -7,
          "benign_score": 9,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4",
            "BP6_Very_Strong"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000348513.12",
          "gene_symbol": "SMARCE1",
          "hgnc_id": 11109,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.597C>T",
          "hgvs_p": "p.Asn199Asn"
        },
        {
          "score": -7,
          "benign_score": 9,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4",
            "BP6_Very_Strong"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000476049.1",
          "gene_symbol": "ENSG00000264058",
          "hgnc_id": null,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.*945C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Familial meningioma,Hereditary cancer-predisposing syndrome",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Familial meningioma|Hereditary cancer-predisposing syndrome",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}