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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: 1-62475853-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=62475853&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 62475853,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000635253.2",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5815C>T",
          "hgvs_p": "p.Arg1939Cys",
          "transcript": "NM_001367561.1",
          "protein_id": "NP_001354490.1",
          "transcript_support_level": null,
          "aa_start": 1939,
          "aa_end": null,
          "aa_length": 2140,
          "cds_start": 5815,
          "cds_end": null,
          "cds_length": 6423,
          "cdna_start": 5937,
          "cdna_end": null,
          "cdna_length": 7233,
          "mane_select": "ENST00000635253.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5815C>T",
          "hgvs_p": "p.Arg1939Cys",
          "transcript": "ENST00000635253.2",
          "protein_id": "ENSP00000489124.1",
          "transcript_support_level": 5,
          "aa_start": 1939,
          "aa_end": null,
          "aa_length": 2140,
          "cds_start": 5815,
          "cds_end": null,
          "cds_length": 6423,
          "cdna_start": 5937,
          "cdna_end": null,
          "cdna_length": 7233,
          "mane_select": "NM_001367561.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5782C>T",
          "hgvs_p": "p.Arg1928Cys",
          "transcript": "ENST00000454575.6",
          "protein_id": "ENSP00000413583.2",
          "transcript_support_level": 1,
          "aa_start": 1928,
          "aa_end": null,
          "aa_length": 2129,
          "cds_start": 5782,
          "cds_end": null,
          "cds_length": 6390,
          "cdna_start": 5793,
          "cdna_end": null,
          "cdna_length": 6985,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5788C>T",
          "hgvs_p": "p.Arg1930Cys",
          "transcript": "NM_001330614.2",
          "protein_id": "NP_001317543.1",
          "transcript_support_level": null,
          "aa_start": 1930,
          "aa_end": null,
          "aa_length": 2131,
          "cds_start": 5788,
          "cds_end": null,
          "cds_length": 6396,
          "cdna_start": 5910,
          "cdna_end": null,
          "cdna_length": 7206,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5788C>T",
          "hgvs_p": "p.Arg1930Cys",
          "transcript": "ENST00000251157.10",
          "protein_id": "ENSP00000251157.6",
          "transcript_support_level": 5,
          "aa_start": 1930,
          "aa_end": null,
          "aa_length": 2131,
          "cds_start": 5788,
          "cds_end": null,
          "cds_length": 6396,
          "cdna_start": 5788,
          "cdna_end": null,
          "cdna_length": 7084,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5782C>T",
          "hgvs_p": "p.Arg1928Cys",
          "transcript": "NM_001271999.2",
          "protein_id": "NP_001258928.1",
          "transcript_support_level": null,
          "aa_start": 1928,
          "aa_end": null,
          "aa_length": 2129,
          "cds_start": 5782,
          "cds_end": null,
          "cds_length": 6390,
          "cdna_start": 5904,
          "cdna_end": null,
          "cdna_length": 7200,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5722C>T",
          "hgvs_p": "p.Arg1908Cys",
          "transcript": "NM_033407.4",
          "protein_id": "NP_212132.2",
          "transcript_support_level": null,
          "aa_start": 1908,
          "aa_end": null,
          "aa_length": 2109,
          "cds_start": 5722,
          "cds_end": null,
          "cds_length": 6330,
          "cdna_start": 5844,
          "cdna_end": null,
          "cdna_length": 7140,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5722C>T",
          "hgvs_p": "p.Arg1908Cys",
          "transcript": "ENST00000340370.10",
          "protein_id": "ENSP00000340742.5",
          "transcript_support_level": 2,
          "aa_start": 1908,
          "aa_end": null,
          "aa_length": 2109,
          "cds_start": 5722,
          "cds_end": null,
          "cds_length": 6330,
          "cdna_start": 5722,
          "cdna_end": null,
          "cdna_length": 6731,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5695C>T",
          "hgvs_p": "p.Arg1899Cys",
          "transcript": "NM_001272000.2",
          "protein_id": "NP_001258929.1",
          "transcript_support_level": null,
          "aa_start": 1899,
          "aa_end": null,
          "aa_length": 2100,
          "cds_start": 5695,
          "cds_end": null,
          "cds_length": 6303,
          "cdna_start": 5817,
          "cdna_end": null,
          "cdna_length": 7113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5695C>T",
          "hgvs_p": "p.Arg1899Cys",
          "transcript": "ENST00000634264.1",
          "protein_id": "ENSP00000489284.1",
          "transcript_support_level": 5,
          "aa_start": 1899,
          "aa_end": null,
          "aa_length": 2100,
          "cds_start": 5695,
          "cds_end": null,
          "cds_length": 6303,
          "cdna_start": 5695,
          "cdna_end": null,
          "cdna_length": 6303,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5689C>T",
          "hgvs_p": "p.Arg1897Cys",
          "transcript": "NM_001272001.2",
          "protein_id": "NP_001258930.1",
          "transcript_support_level": null,
          "aa_start": 1897,
          "aa_end": null,
          "aa_length": 2098,
          "cds_start": 5689,
          "cds_end": null,
          "cds_length": 6297,
          "cdna_start": 5811,
          "cdna_end": null,
          "cdna_length": 7107,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5689C>T",
          "hgvs_p": "p.Arg1897Cys",
          "transcript": "ENST00000635123.1",
          "protein_id": "ENSP00000489499.1",
          "transcript_support_level": 5,
          "aa_start": 1897,
          "aa_end": null,
          "aa_length": 2098,
          "cds_start": 5689,
          "cds_end": null,
          "cds_length": 6297,
          "cdna_start": 5689,
          "cdna_end": null,
          "cdna_length": 6297,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.3082C>T",
          "hgvs_p": "p.Arg1028Cys",
          "transcript": "ENST00000637255.1",
          "protein_id": "ENSP00000490888.1",
          "transcript_support_level": 5,
          "aa_start": 1028,
          "aa_end": null,
          "aa_length": 1229,
          "cds_start": 3082,
          "cds_end": null,
          "cds_length": 3690,
          "cdna_start": 3082,
          "cdna_end": null,
          "cdna_length": 4071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5809C>T",
          "hgvs_p": "p.Arg1937Cys",
          "transcript": "XM_011542327.3",
          "protein_id": "XP_011540629.1",
          "transcript_support_level": null,
          "aa_start": 1937,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 5809,
          "cds_end": null,
          "cds_length": 6417,
          "cdna_start": 5931,
          "cdna_end": null,
          "cdna_length": 7227,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 45,
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          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5800C>T",
          "hgvs_p": "p.Arg1934Cys",
          "transcript": "XM_011542328.3",
          "protein_id": "XP_011540630.1",
          "transcript_support_level": null,
          "aa_start": 1934,
          "aa_end": null,
          "aa_length": 2135,
          "cds_start": 5800,
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          "cdna_start": 5922,
          "cdna_end": null,
          "cdna_length": 7218,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 45,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5773C>T",
          "hgvs_p": "p.Arg1925Cys",
          "transcript": "XM_047432964.1",
          "protein_id": "XP_047288920.1",
          "transcript_support_level": null,
          "aa_start": 1925,
          "aa_end": null,
          "aa_length": 2126,
          "cds_start": 5773,
          "cds_end": null,
          "cds_length": 6381,
          "cdna_start": 5895,
          "cdna_end": null,
          "cdna_length": 7191,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5716C>T",
          "hgvs_p": "p.Arg1906Cys",
          "transcript": "XM_017002639.2",
          "protein_id": "XP_016858128.1",
          "transcript_support_level": null,
          "aa_start": 1906,
          "aa_end": null,
          "aa_length": 2107,
          "cds_start": 5716,
          "cds_end": null,
          "cds_length": 6324,
          "cdna_start": 5838,
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          "cdna_length": 7134,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 44,
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          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5707C>T",
          "hgvs_p": "p.Arg1903Cys",
          "transcript": "XM_047432966.1",
          "protein_id": "XP_047288922.1",
          "transcript_support_level": null,
          "aa_start": 1903,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "c.5680C>T",
          "hgvs_p": "p.Arg1894Cys",
          "transcript": "XM_047432967.1",
          "protein_id": "XP_047288923.1",
          "transcript_support_level": null,
          "aa_start": 1894,
          "aa_end": null,
          "aa_length": 2095,
          "cds_start": 5680,
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          "cds_length": 6288,
          "cdna_start": 5802,
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          "cdna_length": 7098,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "n.214C>T",
          "hgvs_p": null,
          "transcript": "ENST00000467758.1",
          "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": 855,
          "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,
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          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "n.1486C>T",
          "hgvs_p": null,
          "transcript": "ENST00000489185.1",
          "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,
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          "cdna_length": 1855,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "n.1956C>T",
          "hgvs_p": null,
          "transcript": "ENST00000634495.2",
          "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": 3678,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "n.5494C>T",
          "hgvs_p": null,
          "transcript": "ENST00000635983.1",
          "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": 6506,
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK7",
          "gene_hgnc_id": 19190,
          "hgvs_c": "n.*218C>T",
          "hgvs_p": null,
          "transcript": "ENST00000637487.1",
          "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": 123,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "DOCK7",
      "gene_hgnc_id": 19190,
      "dbsnp": "rs1162507044",
      "frequency_reference_population": 0.000007435359,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 12,
      "gnomad_exomes_af": 0.00000752527,
      "gnomad_genomes_af": 0.00000657168,
      "gnomad_exomes_ac": 11,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.8220701217651367,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.14000000059604645,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.39,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.5225,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.06,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 6.733,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.14,
      "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": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000635253.2",
          "gene_symbol": "DOCK7",
          "hgnc_id": 19190,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.5815C>T",
          "hgvs_p": "p.Arg1939Cys"
        }
      ],
      "clinvar_disease": " 23,Developmental and epileptic encephalopathy",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Developmental and epileptic encephalopathy, 23",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}