← Back to variant description

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: 16-28606999-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28606999&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 28606999,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000314752.12",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "NM_001055.4",
          "protein_id": "NP_001046.2",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 569,
          "cdna_end": null,
          "cdna_length": 1569,
          "mane_select": "ENST00000314752.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "ENST00000314752.12",
          "protein_id": "ENSP00000321988.7",
          "transcript_support_level": 1,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 569,
          "cdna_end": null,
          "cdna_length": 1569,
          "mane_select": "NM_001055.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "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": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "ENST00000569554.5",
          "protein_id": "ENSP00000457912.1",
          "transcript_support_level": 1,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 516,
          "cdna_end": null,
          "cdna_length": 1578,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000289755",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1210G>C",
          "hgvs_p": null,
          "transcript": "ENST00000562058.5",
          "protein_id": null,
          "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": 1876,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000289755",
          "gene_hgnc_id": null,
          "hgvs_c": "n.982G>C",
          "hgvs_p": null,
          "transcript": "ENST00000564818.5",
          "protein_id": null,
          "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": 1653,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "NM_001394421.1",
          "protein_id": "NP_001381350.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 1105,
          "cdna_end": null,
          "cdna_length": 2105,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "NM_001394422.1",
          "protein_id": "NP_001381351.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 1904,
          "cdna_end": null,
          "cdna_length": 2904,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "NM_001394423.1",
          "protein_id": "NP_001381352.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 1235,
          "cdna_end": null,
          "cdna_length": 2235,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "NM_001394424.1",
          "protein_id": "NP_001381353.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 802,
          "cdna_end": null,
          "cdna_length": 1802,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "NM_001394425.1",
          "protein_id": "NP_001381354.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 1032,
          "cdna_end": null,
          "cdna_length": 2032,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "NM_177529.3",
          "protein_id": "NP_803565.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 600,
          "cdna_end": null,
          "cdna_length": 1600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "NM_177530.4",
          "protein_id": "NP_803566.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 1441,
          "cdna_end": null,
          "cdna_length": 2441,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "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": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "NM_177534.4",
          "protein_id": "NP_803878.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 1640,
          "cdna_end": null,
          "cdna_length": 2640,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "ENST00000566189.5",
          "protein_id": "ENSP00000456459.1",
          "transcript_support_level": 5,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 280,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 844,
          "cdna_start": 546,
          "cdna_end": null,
          "cdna_length": 939,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "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": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.148G>C",
          "hgvs_p": "p.Glu50Gln",
          "transcript": "NM_177536.5",
          "protein_id": "NP_803880.2",
          "transcript_support_level": null,
          "aa_start": 50,
          "aa_end": null,
          "aa_length": 194,
          "cds_start": 148,
          "cds_end": null,
          "cds_length": 585,
          "cdna_start": 395,
          "cdna_end": null,
          "cdna_length": 1395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.325G>C",
          "hgvs_p": "p.Glu109Gln",
          "transcript": "ENST00000567512.1",
          "protein_id": "ENSP00000455979.1",
          "transcript_support_level": 3,
          "aa_start": 109,
          "aa_end": null,
          "aa_length": 168,
          "cds_start": 325,
          "cds_end": null,
          "cds_length": 509,
          "cdna_start": 431,
          "cdna_end": null,
          "cdna_length": 615,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "XM_017023604.2",
          "protein_id": "XP_016879093.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 645,
          "cdna_end": null,
          "cdna_length": 1663,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "XM_017023605.2",
          "protein_id": "XP_016879094.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 642,
          "cdna_end": null,
          "cdna_length": 1660,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "XM_017023608.2",
          "protein_id": "XP_016879097.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 569,
          "cdna_end": null,
          "cdna_length": 1587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "XM_017023610.2",
          "protein_id": "XP_016879099.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 764,
          "cdna_end": null,
          "cdna_length": 1782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "XM_047434544.1",
          "protein_id": "XP_047290500.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 649,
          "cdna_end": null,
          "cdna_length": 1667,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "XM_047434545.1",
          "protein_id": "XP_047290501.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 733,
          "cdna_end": null,
          "cdna_length": 1751,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "XM_047434546.1",
          "protein_id": "XP_047290502.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 600,
          "cdna_end": null,
          "cdna_length": 1618,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "XM_047434547.1",
          "protein_id": "XP_047290503.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 771,
          "cdna_end": null,
          "cdna_length": 1789,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "XM_047434548.1",
          "protein_id": "XP_047290504.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": 764,
          "cdna_end": null,
          "cdna_length": 1764,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "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": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.217G>C",
          "hgvs_p": "p.Glu73Gln",
          "transcript": "XM_047434549.1",
          "protein_id": "XP_047290505.1",
          "transcript_support_level": null,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 223,
          "cds_start": 217,
          "cds_end": null,
          "cds_length": 672,
          "cdna_start": 395,
          "cdna_end": null,
          "cdna_length": 1413,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "Q",
          "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": "SULT1A1",
          "gene_hgnc_id": 11453,
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln",
          "transcript": "XM_047434550.1",
          "protein_id": "XP_047290506.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 198,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 597,
          "cdna_start": 569,
          "cdna_end": null,
          "cdna_length": 908,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000289755",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1021G>C",
          "hgvs_p": null,
          "transcript": "ENST00000563493.1",
          "protein_id": null,
          "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": 1651,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000293550",
          "gene_hgnc_id": null,
          "hgvs_c": "n.7281G>C",
          "hgvs_p": null,
          "transcript": "ENST00000567998.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7948,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000289755",
          "gene_hgnc_id": null,
          "hgvs_c": "n.565G>C",
          "hgvs_p": null,
          "transcript": "ENST00000698936.1",
          "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": 815,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000289755",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1052G>C",
          "hgvs_p": null,
          "transcript": "ENST00000717665.1",
          "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": 3366,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288656",
          "gene_hgnc_id": null,
          "hgvs_c": "n.304+13064G>C",
          "hgvs_p": null,
          "transcript": "ENST00000677940.1",
          "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": 793,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000289754",
          "gene_hgnc_id": null,
          "hgvs_c": "n.71+13064G>C",
          "hgvs_p": null,
          "transcript": "ENST00000679262.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SULT1A1",
      "gene_hgnc_id": 11453,
      "dbsnp": "rs1042011",
      "frequency_reference_population": 0.0000034234336,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 5,
      "gnomad_exomes_af": 0.00000342343,
      "gnomad_genomes_af": 0,
      "gnomad_exomes_ac": 5,
      "gnomad_genomes_ac": 0,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.4197719693183899,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.506,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1272,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.15,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.584,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000314752.12",
          "gene_symbol": "SULT1A1",
          "hgnc_id": 11453,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.451G>C",
          "hgvs_p": "p.Glu151Gln"
        },
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000562058.5",
          "gene_symbol": "ENSG00000289755",
          "hgnc_id": null,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.1210G>C",
          "hgvs_p": null
        },
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000567998.5",
          "gene_symbol": "ENSG00000293550",
          "hgnc_id": null,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.7281G>C",
          "hgvs_p": null
        },
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000677940.1",
          "gene_symbol": "ENSG00000288656",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.304+13064G>C",
          "hgvs_p": null
        },
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000679262.2",
          "gene_symbol": "ENSG00000289754",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.71+13064G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}