← 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: 11-62889032-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62889032&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 62889032,
      "ref": "T",
      "alt": "C",
      "effect": "downstream_gene_variant",
      "transcript": "ENST00000338663.12",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "NM_001013251.3",
          "protein_id": "NP_001013269.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1885,
          "mane_select": "ENST00000338663.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000338663.12",
          "protein_id": "ENSP00000340815.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1885,
          "mane_select": "NM_001013251.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000377890.6",
          "protein_id": "ENSP00000367122.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 630,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1893,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2161,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "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": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000377889.6",
          "protein_id": "ENSP00000367121.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1993,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "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": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000539891.6",
          "protein_id": "ENSP00000438353.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*152T>C",
          "hgvs_p": null,
          "transcript": "ENST00000538682.6",
          "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": 1803,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000538084.2",
          "protein_id": "ENSP00000440001.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 661,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1986,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2334,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000681569.1",
          "protein_id": "ENSP00000506498.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2313,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "NM_001012662.3",
          "protein_id": "NP_001012680.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1896,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2224,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000377891.6",
          "protein_id": "ENSP00000367123.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1896,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "NM_002394.6",
          "protein_id": "NP_002385.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 630,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1893,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2221,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000681467.1",
          "protein_id": "ENSP00000506217.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 623,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1872,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2227,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680725.1",
          "protein_id": "ENSP00000505585.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2197,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680729.1",
          "protein_id": "ENSP00000505639.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2265,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000535296.5",
          "protein_id": "ENSP00000444236.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2084,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "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": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "NM_001012664.3",
          "protein_id": "NP_001012682.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2035,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000681232.1",
          "protein_id": "ENSP00000506460.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1917,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "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": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000544377.2",
          "protein_id": "ENSP00000442135.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2041,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "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": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680631.1",
          "protein_id": "ENSP00000506006.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1890,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000681657.1",
          "protein_id": "ENSP00000505110.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1905,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*793T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680297.1",
          "protein_id": "ENSP00000506230.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1248,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1975,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000536981.6",
          "protein_id": "ENSP00000444439.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 400,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1203,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1413,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "c.*339T>C",
          "hgvs_p": null,
          "transcript": "ENST00000539507.1",
          "protein_id": "ENSP00000440819.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 121,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 366,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 534,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*1327T>C",
          "hgvs_p": null,
          "transcript": "ENST00000541425.6",
          "protein_id": "ENSP00000445858.2",
          "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": 2029,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*152T>C",
          "hgvs_p": null,
          "transcript": "ENST00000541649.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 1926,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*174T>C",
          "hgvs_p": null,
          "transcript": "ENST00000542922.5",
          "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": 2174,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*187T>C",
          "hgvs_p": null,
          "transcript": "ENST00000679594.1",
          "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": 1512,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*1327T>C",
          "hgvs_p": null,
          "transcript": "ENST00000679908.1",
          "protein_id": "ENSP00000506238.1",
          "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": 2029,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*1462T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680002.1",
          "protein_id": "ENSP00000506366.1",
          "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": 2491,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*1420T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680134.1",
          "protein_id": "ENSP00000504939.1",
          "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": 1869,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*754T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680610.1",
          "protein_id": "ENSP00000505079.1",
          "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": 1929,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*183T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680654.1",
          "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": 2554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*754T>C",
          "hgvs_p": null,
          "transcript": "ENST00000681107.1",
          "protein_id": "ENSP00000505253.1",
          "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": 1908,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*162T>C",
          "hgvs_p": null,
          "transcript": "ENST00000681563.1",
          "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": 2843,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*152T>C",
          "hgvs_p": null,
          "transcript": "ENST00000700482.1",
          "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": 2136,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC3A2",
          "gene_hgnc_id": 11026,
          "hgvs_c": "n.*172T>C",
          "hgvs_p": null,
          "transcript": "NR_037193.2",
          "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": 1651,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SLC3A2",
      "gene_hgnc_id": 11026,
      "dbsnp": "rs2282477",
      "frequency_reference_population": 0.19636801,
      "hom_count_reference_population": 3009,
      "allele_count_reference_population": 29877,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.196368,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 29877,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 3009,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8700000047683716,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.87,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -2.146,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000338663.12",
          "gene_symbol": "SLC3A2",
          "hgnc_id": 11026,
          "effects": [
            "downstream_gene_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.*339T>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
}