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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 10-24543956-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=24543956&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 24543956,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000376454.8",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4686C>A",
          "hgvs_p": "p.Thr1562Thr",
          "transcript": "NM_019590.5",
          "protein_id": "NP_062536.2",
          "transcript_support_level": null,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1943,
          "cds_start": 4686,
          "cds_end": null,
          "cds_length": 5832,
          "cdna_start": 4742,
          "cdna_end": null,
          "cdna_length": 7407,
          "mane_select": "ENST00000376454.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4686C>A",
          "hgvs_p": "p.Thr1562Thr",
          "transcript": "ENST00000376454.8",
          "protein_id": "ENSP00000365637.3",
          "transcript_support_level": 1,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1943,
          "cds_start": 4686,
          "cds_end": null,
          "cds_length": 5832,
          "cdna_start": 4742,
          "cdna_end": null,
          "cdna_length": 7407,
          "mane_select": "NM_019590.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3735C>A",
          "hgvs_p": "p.Thr1245Thr",
          "transcript": "ENST00000376451.4",
          "protein_id": "ENSP00000365634.2",
          "transcript_support_level": 1,
          "aa_start": 1245,
          "aa_end": null,
          "aa_length": 1465,
          "cds_start": 3735,
          "cds_end": null,
          "cds_length": 4398,
          "cdna_start": 3995,
          "cdna_end": null,
          "cdna_length": 7383,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3505-1025C>A",
          "hgvs_p": null,
          "transcript": "ENST00000376452.7",
          "protein_id": "ENSP00000365635.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1374,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4125,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6052,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3430-1025C>A",
          "hgvs_p": null,
          "transcript": "ENST00000458595.5",
          "protein_id": "ENSP00000392625.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1349,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5977,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3175-1025C>A",
          "hgvs_p": null,
          "transcript": "ENST00000376462.5",
          "protein_id": "ENSP00000365645.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1264,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3795,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6123,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2662-1025C>A",
          "hgvs_p": null,
          "transcript": "ENST00000307544.10",
          "protein_id": "ENSP00000302343.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 932,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2799,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3281,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2584-1025C>A",
          "hgvs_p": null,
          "transcript": "ENST00000396445.5",
          "protein_id": "ENSP00000379722.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5706,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2464-1025C>A",
          "hgvs_p": null,
          "transcript": "ENST00000396446.5",
          "protein_id": "ENSP00000379723.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 866,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2601,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3059,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4449C>A",
          "hgvs_p": "p.Thr1483Thr",
          "transcript": "ENST00000696626.1",
          "protein_id": "ENSP00000512763.1",
          "transcript_support_level": null,
          "aa_start": 1483,
          "aa_end": null,
          "aa_length": 1864,
          "cds_start": 4449,
          "cds_end": null,
          "cds_length": 5595,
          "cdna_start": 5806,
          "cdna_end": null,
          "cdna_length": 8471,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.1332C>A",
          "hgvs_p": "p.Thr444Thr",
          "transcript": "ENST00000635163.1",
          "protein_id": "ENSP00000489575.1",
          "transcript_support_level": 5,
          "aa_start": 444,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": 1332,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": 1334,
          "cdna_end": null,
          "cdna_length": 1358,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4683C>A",
          "hgvs_p": "p.Thr1561Thr",
          "transcript": "XM_047425494.1",
          "protein_id": "XP_047281450.1",
          "transcript_support_level": null,
          "aa_start": 1561,
          "aa_end": null,
          "aa_length": 1942,
          "cds_start": 4683,
          "cds_end": null,
          "cds_length": 5829,
          "cdna_start": 4739,
          "cdna_end": null,
          "cdna_length": 7404,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4653C>A",
          "hgvs_p": "p.Thr1551Thr",
          "transcript": "XM_047425495.1",
          "protein_id": "XP_047281451.1",
          "transcript_support_level": null,
          "aa_start": 1551,
          "aa_end": null,
          "aa_length": 1932,
          "cds_start": 4653,
          "cds_end": null,
          "cds_length": 5799,
          "cdna_start": 4709,
          "cdna_end": null,
          "cdna_length": 7374,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4581C>A",
          "hgvs_p": "p.Thr1527Thr",
          "transcript": "XM_017016417.2",
          "protein_id": "XP_016871906.1",
          "transcript_support_level": null,
          "aa_start": 1527,
          "aa_end": null,
          "aa_length": 1908,
          "cds_start": 4581,
          "cds_end": null,
          "cds_length": 5727,
          "cdna_start": 4637,
          "cdna_end": null,
          "cdna_length": 7302,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4578C>A",
          "hgvs_p": "p.Thr1526Thr",
          "transcript": "XM_047425496.1",
          "protein_id": "XP_047281452.1",
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          "aa_end": null,
          "aa_length": 1907,
          "cds_start": 4578,
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          "cds_length": 5724,
          "cdna_start": 4634,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4566C>A",
          "hgvs_p": "p.Thr1522Thr",
          "transcript": "XM_047425497.1",
          "protein_id": "XP_047281453.1",
          "transcript_support_level": null,
          "aa_start": 1522,
          "aa_end": null,
          "aa_length": 1903,
          "cds_start": 4566,
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          "cds_length": 5712,
          "cdna_start": 4622,
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          "cdna_length": 7287,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4548C>A",
          "hgvs_p": "p.Thr1516Thr",
          "transcript": "XM_047425498.1",
          "protein_id": "XP_047281454.1",
          "transcript_support_level": null,
          "aa_start": 1516,
          "aa_end": null,
          "aa_length": 1897,
          "cds_start": 4548,
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          "cds_length": 5694,
          "cdna_start": 4604,
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          "cdna_length": 7269,
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          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4461C>A",
          "hgvs_p": "p.Thr1487Thr",
          "transcript": "XM_047425499.1",
          "protein_id": "XP_047281455.1",
          "transcript_support_level": null,
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          "cds_start": 4461,
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          "cdna_start": 4517,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4458C>A",
          "hgvs_p": "p.Thr1486Thr",
          "transcript": "XM_047425500.1",
          "protein_id": "XP_047281456.1",
          "transcript_support_level": null,
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          "aa_length": 1867,
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          "cdna_start": 4514,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.4236C>A",
          "hgvs_p": "p.Thr1412Thr",
          "transcript": "XM_017016420.2",
          "protein_id": "XP_016871909.1",
          "transcript_support_level": null,
          "aa_start": 1412,
          "aa_end": null,
          "aa_length": 1793,
          "cds_start": 4236,
          "cds_end": null,
          "cds_length": 5382,
          "cdna_start": 4477,
          "cdna_end": null,
          "cdna_length": 7142,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
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          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2464-1025C>A",
          "hgvs_p": null,
          "transcript": "XM_047425534.1",
          "protein_id": "XP_047281490.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1027,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3084,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4863,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2464-1025C>A",
          "hgvs_p": null,
          "transcript": "XM_047425535.1",
          "protein_id": "XP_047281491.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1027,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3084,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4954,
          "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": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "n.*248C>A",
          "hgvs_p": null,
          "transcript": "ENST00000492009.1",
          "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": 1177,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "KIAA1217",
      "gene_hgnc_id": 25428,
      "dbsnp": "rs3748218",
      "frequency_reference_population": 0.0000065841455,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.00000658415,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.6800000071525574,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.68,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -3.142,
      "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": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000376454.8",
          "gene_symbol": "KIAA1217",
          "hgnc_id": 25428,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.4686C>A",
          "hgvs_p": "p.Thr1562Thr"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}