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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: 6-25776721-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=25776721&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 25776721,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000377905.9",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.1114G>A",
          "hgvs_p": "p.Ala372Thr",
          "transcript": "NM_005495.3",
          "protein_id": "NP_005486.1",
          "transcript_support_level": null,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1190,
          "cdna_end": null,
          "cdna_length": 3581,
          "mane_select": "ENST00000377905.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.1114G>A",
          "hgvs_p": "p.Ala372Thr",
          "transcript": "ENST00000377905.9",
          "protein_id": "ENSP00000367137.4",
          "transcript_support_level": 1,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1190,
          "cdna_end": null,
          "cdna_length": 3581,
          "mane_select": "NM_005495.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.952G>A",
          "hgvs_p": "p.Ala318Thr",
          "transcript": "NM_001286121.1",
          "protein_id": "NP_001273050.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 952,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1333,
          "cdna_end": null,
          "cdna_length": 3700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.952G>A",
          "hgvs_p": "p.Ala318Thr",
          "transcript": "ENST00000439485.6",
          "protein_id": "ENSP00000391345.3",
          "transcript_support_level": 5,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 952,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1333,
          "cdna_end": null,
          "cdna_length": 3699,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.424G>A",
          "hgvs_p": "p.Ala142Thr",
          "transcript": "ENST00000397076.2",
          "protein_id": "ENSP00000380266.2",
          "transcript_support_level": 2,
          "aa_start": 142,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 424,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": 726,
          "cdna_end": null,
          "cdna_length": 2331,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.1114G>A",
          "hgvs_p": "p.Ala372Thr",
          "transcript": "XM_024446294.2",
          "protein_id": "XP_024302062.1",
          "transcript_support_level": null,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1407,
          "cdna_end": null,
          "cdna_length": 3798,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.1114G>A",
          "hgvs_p": "p.Ala372Thr",
          "transcript": "XM_024446295.2",
          "protein_id": "XP_024302063.1",
          "transcript_support_level": null,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1299,
          "cdna_end": null,
          "cdna_length": 3690,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.1114G>A",
          "hgvs_p": "p.Ala372Thr",
          "transcript": "XM_024446296.2",
          "protein_id": "XP_024302064.1",
          "transcript_support_level": null,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1287,
          "cdna_end": null,
          "cdna_length": 3678,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.1114G>A",
          "hgvs_p": "p.Ala372Thr",
          "transcript": "XM_047418033.1",
          "protein_id": "XP_047273989.1",
          "transcript_support_level": null,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1341,
          "cdna_end": null,
          "cdna_length": 3732,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.1114G>A",
          "hgvs_p": "p.Ala372Thr",
          "transcript": "XM_047418034.1",
          "protein_id": "XP_047273990.1",
          "transcript_support_level": null,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1353,
          "cdna_end": null,
          "cdna_length": 3744,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.952G>A",
          "hgvs_p": "p.Ala318Thr",
          "transcript": "XM_011514211.2",
          "protein_id": "XP_011512513.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 952,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1272,
          "cdna_end": null,
          "cdna_length": 3663,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.880G>A",
          "hgvs_p": "p.Ala294Thr",
          "transcript": "XM_047418035.1",
          "protein_id": "XP_047273991.1",
          "transcript_support_level": null,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": 880,
          "cds_end": null,
          "cds_length": 1260,
          "cdna_start": 1107,
          "cdna_end": null,
          "cdna_length": 3498,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.1114G>A",
          "hgvs_p": "p.Ala372Thr",
          "transcript": "XM_047418036.1",
          "protein_id": "XP_047273992.1",
          "transcript_support_level": null,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 388,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1167,
          "cdna_start": 1341,
          "cdna_end": null,
          "cdna_length": 1433,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.586G>A",
          "hgvs_p": "p.Ala196Thr",
          "transcript": "XM_047418039.1",
          "protein_id": "XP_047273995.1",
          "transcript_support_level": null,
          "aa_start": 196,
          "aa_end": null,
          "aa_length": 321,
          "cds_start": 586,
          "cds_end": null,
          "cds_length": 966,
          "cdna_start": 813,
          "cdna_end": null,
          "cdna_length": 3204,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.490G>A",
          "hgvs_p": "p.Ala164Thr",
          "transcript": "XM_011514218.3",
          "protein_id": "XP_011512520.1",
          "transcript_support_level": null,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 490,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": 561,
          "cdna_end": null,
          "cdna_length": 2952,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.424G>A",
          "hgvs_p": "p.Ala142Thr",
          "transcript": "XM_011514219.3",
          "protein_id": "XP_011512521.1",
          "transcript_support_level": null,
          "aa_start": 142,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 424,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": 543,
          "cdna_end": null,
          "cdna_length": 2934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.424G>A",
          "hgvs_p": "p.Ala142Thr",
          "transcript": "XM_047418040.1",
          "protein_id": "XP_047273996.1",
          "transcript_support_level": null,
          "aa_start": 142,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 424,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": 651,
          "cdna_end": null,
          "cdna_length": 3042,
          "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": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "n.1341G>A",
          "hgvs_p": null,
          "transcript": "XR_007059192.1",
          "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": 2413,
          "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": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "n.1341G>A",
          "hgvs_p": null,
          "transcript": "XR_007059193.1",
          "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": 2251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A1",
          "gene_hgnc_id": 10929,
          "hgvs_c": "c.*2+22062C>T",
          "hgvs_p": null,
          "transcript": "XM_017011201.3",
          "protein_id": "XP_016866690.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 467,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1404,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1566,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.988-1205G>A",
          "hgvs_p": null,
          "transcript": "XM_047418037.1",
          "protein_id": "XP_047273993.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3451,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.707-1205G>A",
          "hgvs_p": null,
          "transcript": "XM_047418041.1",
          "protein_id": "XP_047273997.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 250,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 753,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1019,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "c.*845G>A",
          "hgvs_p": null,
          "transcript": "XM_047418038.1",
          "protein_id": "XP_047273994.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 333,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1002,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2041,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC17A4",
          "gene_hgnc_id": 10932,
          "hgvs_c": "n.*38G>A",
          "hgvs_p": null,
          "transcript": "XR_007059194.1",
          "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": 1484,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SLC17A4",
      "gene_hgnc_id": 10932,
      "dbsnp": "rs11754288",
      "frequency_reference_population": 0.3958691,
      "hom_count_reference_population": 133531,
      "allele_count_reference_population": 638772,
      "gnomad_exomes_af": 0.40385,
      "gnomad_genomes_af": 0.319127,
      "gnomad_exomes_ac": 590264,
      "gnomad_genomes_ac": 48508,
      "gnomad_exomes_homalt": 124024,
      "gnomad_genomes_homalt": 9507,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.0002543628215789795,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.082,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.08,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.57,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.465,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "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": -14,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
      "acmg_by_gene": [
        {
          "score": -14,
          "benign_score": 14,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Moderate",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000377905.9",
          "gene_symbol": "SLC17A4",
          "hgnc_id": 10932,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1114G>A",
          "hgvs_p": "p.Ala372Thr"
        },
        {
          "score": -14,
          "benign_score": 14,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Moderate",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "XM_017011201.3",
          "gene_symbol": "SLC17A1",
          "hgnc_id": 10929,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.*2+22062C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "B:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}