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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: 10-102830776-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102830776&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 102830776,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_000102.4",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1453C>T",
          "hgvs_p": "p.Leu485Leu",
          "transcript": "NM_000102.4",
          "protein_id": "NP_000093.1",
          "transcript_support_level": null,
          "aa_start": 485,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": 1453,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000369887.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000102.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1453C>T",
          "hgvs_p": "p.Leu485Leu",
          "transcript": "ENST00000369887.4",
          "protein_id": "ENSP00000358903.3",
          "transcript_support_level": 1,
          "aa_start": 485,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": 1453,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000102.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000369887.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1480C>T",
          "hgvs_p": "p.Leu494Leu",
          "transcript": "ENST00000960108.1",
          "protein_id": "ENSP00000630166.1",
          "transcript_support_level": null,
          "aa_start": 494,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": 1480,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960108.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1480C>T",
          "hgvs_p": "p.Leu494Leu",
          "transcript": "ENST00000960123.1",
          "protein_id": "ENSP00000630182.1",
          "transcript_support_level": null,
          "aa_start": 494,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": 1480,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960123.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1456C>T",
          "hgvs_p": "p.Leu486Leu",
          "transcript": "ENST00000639393.1",
          "protein_id": "ENSP00000492651.1",
          "transcript_support_level": 5,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 509,
          "cds_start": 1456,
          "cds_end": null,
          "cds_length": 1530,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000639393.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1450C>T",
          "hgvs_p": "p.Leu484Leu",
          "transcript": "ENST00000960106.1",
          "protein_id": "ENSP00000630165.1",
          "transcript_support_level": null,
          "aa_start": 484,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1450,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960106.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1447C>T",
          "hgvs_p": "p.Leu483Leu",
          "transcript": "ENST00000960110.1",
          "protein_id": "ENSP00000630168.1",
          "transcript_support_level": null,
          "aa_start": 483,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": 1447,
          "cds_end": null,
          "cds_length": 1521,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960110.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1420C>T",
          "hgvs_p": "p.Leu474Leu",
          "transcript": "ENST00000960117.1",
          "protein_id": "ENSP00000630177.1",
          "transcript_support_level": null,
          "aa_start": 474,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1420,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960117.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1420C>T",
          "hgvs_p": "p.Leu474Leu",
          "transcript": "ENST00000960119.1",
          "protein_id": "ENSP00000630178.1",
          "transcript_support_level": null,
          "aa_start": 474,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1420,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960119.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1387C>T",
          "hgvs_p": "p.Leu463Leu",
          "transcript": "ENST00000960121.1",
          "protein_id": "ENSP00000630180.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": 1387,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960121.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1384C>T",
          "hgvs_p": "p.Leu462Leu",
          "transcript": "ENST00000960109.1",
          "protein_id": "ENSP00000630167.1",
          "transcript_support_level": null,
          "aa_start": 462,
          "aa_end": null,
          "aa_length": 485,
          "cds_start": 1384,
          "cds_end": null,
          "cds_length": 1458,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960109.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1384C>T",
          "hgvs_p": "p.Leu462Leu",
          "transcript": "ENST00000960114.1",
          "protein_id": "ENSP00000630174.1",
          "transcript_support_level": null,
          "aa_start": 462,
          "aa_end": null,
          "aa_length": 485,
          "cds_start": 1384,
          "cds_end": null,
          "cds_length": 1458,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960114.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1369C>T",
          "hgvs_p": "p.Leu457Leu",
          "transcript": "ENST00000960111.1",
          "protein_id": "ENSP00000630170.1",
          "transcript_support_level": null,
          "aa_start": 457,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": 1369,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960111.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1366C>T",
          "hgvs_p": "p.Leu456Leu",
          "transcript": "ENST00000638971.1",
          "protein_id": "ENSP00000492313.1",
          "transcript_support_level": 5,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 479,
          "cds_start": 1366,
          "cds_end": null,
          "cds_length": 1440,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000638971.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1297C>T",
          "hgvs_p": "p.Leu433Leu",
          "transcript": "ENST00000960122.1",
          "protein_id": "ENSP00000630181.1",
          "transcript_support_level": null,
          "aa_start": 433,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": 1297,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960122.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1183C>T",
          "hgvs_p": "p.Leu395Leu",
          "transcript": "ENST00000960120.1",
          "protein_id": "ENSP00000630179.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 418,
          "cds_start": 1183,
          "cds_end": null,
          "cds_length": 1257,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960120.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1150C>T",
          "hgvs_p": "p.Leu384Leu",
          "transcript": "ENST00000638190.1",
          "protein_id": "ENSP00000492539.1",
          "transcript_support_level": 5,
          "aa_start": 384,
          "aa_end": null,
          "aa_length": 407,
          "cds_start": 1150,
          "cds_end": null,
          "cds_length": 1224,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000638190.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.1000C>T",
          "hgvs_p": "p.Leu334Leu",
          "transcript": "ENST00000960113.1",
          "protein_id": "ENSP00000630172.1",
          "transcript_support_level": null,
          "aa_start": 334,
          "aa_end": null,
          "aa_length": 357,
          "cds_start": 1000,
          "cds_end": null,
          "cds_length": 1074,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960113.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "c.997C>T",
          "hgvs_p": "p.Leu333Leu",
          "transcript": "ENST00000638272.1",
          "protein_id": "ENSP00000491508.1",
          "transcript_support_level": 5,
          "aa_start": 333,
          "aa_end": null,
          "aa_length": 356,
          "cds_start": 997,
          "cds_end": null,
          "cds_length": 1071,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000638272.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "n.1215C>T",
          "hgvs_p": null,
          "transcript": "ENST00000640633.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000640633.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WBP1L",
          "gene_hgnc_id": 23510,
          "hgvs_c": "n.*458G>A",
          "hgvs_p": null,
          "transcript": "ENST00000647664.1",
          "protein_id": "ENSP00000498131.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000647664.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WBP1L",
          "gene_hgnc_id": 23510,
          "hgvs_c": "n.*458G>A",
          "hgvs_p": null,
          "transcript": "ENST00000647664.1",
          "protein_id": "ENSP00000498131.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000647664.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP17A1",
          "gene_hgnc_id": 2593,
          "hgvs_c": "n.*172C>T",
          "hgvs_p": null,
          "transcript": "ENST00000469683.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000469683.1"
        }
      ],
      "gene_symbol": "CYP17A1",
      "gene_hgnc_id": 2593,
      "dbsnp": "rs778689763",
      "frequency_reference_population": 0.0000018735012,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 3,
      "gnomad_exomes_af": 0.00000138017,
      "gnomad_genomes_af": 0.00000657099,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.44999998807907104,
      "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": -0.45,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.764,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_000102.4",
          "gene_symbol": "CYP17A1",
          "hgnc_id": 2593,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1453C>T",
          "hgvs_p": "p.Leu485Leu"
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000647664.1",
          "gene_symbol": "WBP1L",
          "hgnc_id": 23510,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.*458G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}