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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: 14-65077940-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=65077940&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 65077940,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000358664.9",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.268C>T",
          "hgvs_p": "p.Arg90Trp",
          "transcript": "NM_002382.5",
          "protein_id": "NP_002373.3",
          "transcript_support_level": null,
          "aa_start": 90,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 268,
          "cds_end": null,
          "cds_length": 483,
          "cdna_start": 446,
          "cdna_end": null,
          "cdna_length": 2010,
          "mane_select": "ENST00000358664.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.268C>T",
          "hgvs_p": "p.Arg90Trp",
          "transcript": "ENST00000358664.9",
          "protein_id": "ENSP00000351490.4",
          "transcript_support_level": 1,
          "aa_start": 90,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 268,
          "cds_end": null,
          "cds_length": 483,
          "cdna_start": 446,
          "cdna_end": null,
          "cdna_length": 2010,
          "mane_select": "NM_002382.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.241C>T",
          "hgvs_p": "p.Arg81Trp",
          "transcript": "ENST00000358402.8",
          "protein_id": "ENSP00000351175.4",
          "transcript_support_level": 1,
          "aa_start": 81,
          "aa_end": null,
          "aa_length": 151,
          "cds_start": 241,
          "cds_end": null,
          "cds_length": 456,
          "cdna_start": 406,
          "cdna_end": null,
          "cdna_length": 1973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.268C>T",
          "hgvs_p": "p.Arg90Trp",
          "transcript": "ENST00000284165.10",
          "protein_id": "ENSP00000284165.6",
          "transcript_support_level": 1,
          "aa_start": 90,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 268,
          "cds_end": null,
          "cds_length": 405,
          "cdna_start": 417,
          "cdna_end": null,
          "cdna_length": 3155,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.241C>T",
          "hgvs_p": "p.Arg81Trp",
          "transcript": "ENST00000555667.5",
          "protein_id": "ENSP00000452286.1",
          "transcript_support_level": 1,
          "aa_start": 81,
          "aa_end": null,
          "aa_length": 94,
          "cds_start": 241,
          "cds_end": null,
          "cds_length": 285,
          "cdna_start": 419,
          "cdna_end": null,
          "cdna_length": 574,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "n.268C>T",
          "hgvs_p": null,
          "transcript": "ENST00000394606.6",
          "protein_id": "ENSP00000378104.2",
          "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": 2097,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "n.268C>T",
          "hgvs_p": null,
          "transcript": "ENST00000553928.5",
          "protein_id": "ENSP00000451907.1",
          "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": 623,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.268C>T",
          "hgvs_p": "p.Arg90Trp",
          "transcript": "NM_001407094.1",
          "protein_id": "NP_001394023.1",
          "transcript_support_level": null,
          "aa_start": 90,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 268,
          "cds_end": null,
          "cds_length": 483,
          "cdna_start": 301,
          "cdna_end": null,
          "cdna_length": 1865,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.241C>T",
          "hgvs_p": "p.Arg81Trp",
          "transcript": "NM_001407095.1",
          "protein_id": "NP_001394024.1",
          "transcript_support_level": null,
          "aa_start": 81,
          "aa_end": null,
          "aa_length": 151,
          "cds_start": 241,
          "cds_end": null,
          "cds_length": 456,
          "cdna_start": 274,
          "cdna_end": null,
          "cdna_length": 1838,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.241C>T",
          "hgvs_p": "p.Arg81Trp",
          "transcript": "NM_145112.3",
          "protein_id": "NP_660087.1",
          "transcript_support_level": null,
          "aa_start": 81,
          "aa_end": null,
          "aa_length": 151,
          "cds_start": 241,
          "cds_end": null,
          "cds_length": 456,
          "cdna_start": 419,
          "cdna_end": null,
          "cdna_length": 1983,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.268C>T",
          "hgvs_p": "p.Arg90Trp",
          "transcript": "NM_001407096.1",
          "protein_id": "NP_001394025.1",
          "transcript_support_level": null,
          "aa_start": 90,
          "aa_end": null,
          "aa_length": 130,
          "cds_start": 268,
          "cds_end": null,
          "cds_length": 393,
          "cdna_start": 446,
          "cdna_end": null,
          "cdna_length": 2176,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.268C>T",
          "hgvs_p": "p.Arg90Trp",
          "transcript": "NM_001407097.1",
          "protein_id": "NP_001394026.1",
          "transcript_support_level": null,
          "aa_start": 90,
          "aa_end": null,
          "aa_length": 130,
          "cds_start": 268,
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          "cds_length": 393,
          "cdna_start": 446,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.241C>T",
          "hgvs_p": "p.Arg81Trp",
          "transcript": "ENST00000556443.5",
          "protein_id": "ENSP00000450818.1",
          "transcript_support_level": 2,
          "aa_start": 81,
          "aa_end": null,
          "aa_length": 125,
          "cds_start": 241,
          "cds_end": null,
          "cds_length": 378,
          "cdna_start": 419,
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          "cdna_length": 585,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.160C>T",
          "hgvs_p": "p.Arg54Trp",
          "transcript": "NM_001407098.1",
          "protein_id": "NP_001394027.1",
          "transcript_support_level": null,
          "aa_start": 54,
          "aa_end": null,
          "aa_length": 124,
          "cds_start": 160,
          "cds_end": null,
          "cds_length": 375,
          "cdna_start": 338,
          "cdna_end": null,
          "cdna_length": 1902,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.160C>T",
          "hgvs_p": "p.Arg54Trp",
          "transcript": "ENST00000555419.5",
          "protein_id": "ENSP00000452405.1",
          "transcript_support_level": 5,
          "aa_start": 54,
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          "cds_start": 160,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
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          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.241C>T",
          "hgvs_p": "p.Arg81Trp",
          "transcript": "NM_001407099.1",
          "protein_id": "NP_001394028.1",
          "transcript_support_level": null,
          "aa_start": 81,
          "aa_end": null,
          "aa_length": 121,
          "cds_start": 241,
          "cds_end": null,
          "cds_length": 366,
          "cdna_start": 419,
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          "cdna_length": 2149,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.241C>T",
          "hgvs_p": "p.Arg81Trp",
          "transcript": "NM_001407100.1",
          "protein_id": "NP_001394029.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 121,
          "cds_start": 241,
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          "cds_length": 366,
          "cdna_start": 419,
          "cdna_end": null,
          "cdna_length": 2165,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.241C>T",
          "hgvs_p": "p.Arg81Trp",
          "transcript": "NM_001407101.1",
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          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.241C>T",
          "hgvs_p": "p.Arg81Trp",
          "transcript": "NM_001407102.1",
          "protein_id": "NP_001394031.1",
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          "mane_select": null,
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        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
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          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.241C>T",
          "hgvs_p": "p.Arg81Trp",
          "transcript": "ENST00000557746.5",
          "protein_id": "ENSP00000452197.1",
          "transcript_support_level": 4,
          "aa_start": 81,
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          "aa_length": 121,
          "cds_start": 241,
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          "cds_length": 366,
          "cdna_start": 419,
          "cdna_end": null,
          "cdna_length": 571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAX",
          "gene_hgnc_id": 6913,
          "hgvs_c": "c.268C>T",
          "hgvs_p": "p.Arg90Trp",
          "transcript": "NM_001407103.1",
          "protein_id": "NP_001394032.1",
          "transcript_support_level": null,
          "aa_start": 90,
          "aa_end": null,
          "aa_length": 103,
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          "protein_id": "NP_001257998.1",
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        },
        {
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          "hgvs_c": "n.145-7571C>T",
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          "transcript": "ENST00000651648.1",
          "protein_id": "ENSP00000498863.1",
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          "cdna_length": 2013,
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        }
      ],
      "gene_symbol": "MAX",
      "gene_hgnc_id": 6913,
      "dbsnp": "rs1060500099",
      "frequency_reference_population": 0.0000013680882,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000136809,
      "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": 0.8767930865287781,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.732,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.7991,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.23,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 4.356,
      "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": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000358664.9",
          "gene_symbol": "MAX",
          "hgnc_id": 6913,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.268C>T",
          "hgvs_p": "p.Arg90Trp"
        }
      ],
      "clinvar_disease": "Hereditary cancer-predisposing syndrome,Hereditary pheochromocytoma-paraganglioma",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}