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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: 8-69629589-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=69629589&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 69629589,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001412828.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_001128205.2",
          "protein_id": "NP_001121677.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000402687.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001128205.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "ENST00000402687.9",
          "protein_id": "ENSP00000385704.4",
          "transcript_support_level": 1,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001128205.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000402687.9"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "ENST00000419716.7",
          "protein_id": "ENSP00000390315.3",
          "transcript_support_level": 1,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000419716.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "ENST00000458141.6",
          "protein_id": "ENSP00000403040.2",
          "transcript_support_level": 1,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000458141.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "n.1534C>A",
          "hgvs_p": null,
          "transcript": "ENST00000521946.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000521946.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_001412828.1",
          "protein_id": "NP_001399757.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 1122,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 3369,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412828.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_001412829.1",
          "protein_id": "NP_001399758.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 1122,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 3369,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412829.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_001412830.1",
          "protein_id": "NP_001399759.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 1122,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 3369,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412830.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_001412831.1",
          "protein_id": "NP_001399760.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 1122,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 3369,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412831.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2065C>A",
          "hgvs_p": "p.Arg689Arg",
          "transcript": "NM_001412832.1",
          "protein_id": "NP_001399761.1",
          "transcript_support_level": null,
          "aa_start": 689,
          "aa_end": null,
          "aa_length": 1079,
          "cds_start": 2065,
          "cds_end": null,
          "cds_length": 3240,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412832.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_001412833.1",
          "protein_id": "NP_001399762.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 903,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2712,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412833.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_001412834.1",
          "protein_id": "NP_001399763.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 903,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2712,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412834.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_001128204.2",
          "protein_id": "NP_001121676.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001128204.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_001128206.2",
          "protein_id": "NP_001121678.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001128206.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_001412835.1",
          "protein_id": "NP_001399764.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412835.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "NM_015170.3",
          "protein_id": "NP_055985.2",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015170.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "ENST00000260128.8",
          "protein_id": "ENSP00000260128.4",
          "transcript_support_level": 5,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000260128.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg",
          "transcript": "ENST00000889122.1",
          "protein_id": "ENSP00000559181.1",
          "transcript_support_level": null,
          "aa_start": 732,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 2194,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889122.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2137C>A",
          "hgvs_p": "p.Arg713Arg",
          "transcript": "NM_001412836.1",
          "protein_id": "NP_001399765.1",
          "transcript_support_level": null,
          "aa_start": 713,
          "aa_end": null,
          "aa_length": 852,
          "cds_start": 2137,
          "cds_end": null,
          "cds_length": 2559,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412836.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SULF1",
          "gene_hgnc_id": 20391,
          "hgvs_c": "c.2137C>A",
          "hgvs_p": "p.Arg713Arg",
          "transcript": "NM_001412837.1",
          "protein_id": "NP_001399766.1",
          "transcript_support_level": null,
          "aa_start": 713,
          "aa_end": null,
          "aa_length": 852,
          "cds_start": 2137,
          "cds_end": null,
          "cds_length": 2559,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "SULF1",
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          "hgvs_c": "n.2754C>A",
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          "transcript": "NR_182051.1",
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          "biotype": "pseudogene",
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        {
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          "strand": true,
          "consequences": [
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          "gene_symbol": "SULF1",
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          "hgvs_c": "n.2747C>A",
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          "biotype": "pseudogene",
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        {
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          "protein_coding": false,
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          "consequences": [
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          "gene_symbol": "SULF1",
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          "hgvs_c": "n.2332C>A",
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          "transcript": "NR_182055.1",
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        {
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          "protein_coding": false,
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          "consequences": [
            "downstream_gene_variant"
          ],
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "SULF1",
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          "hgvs_c": "n.*18C>A",
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          "transcript": "ENST00000524731.1",
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          "transcript_support_level": 3,
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          "biotype": "pseudogene",
          "feature": "ENST00000524731.1"
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      ],
      "gene_symbol": "SULF1",
      "gene_hgnc_id": 20391,
      "dbsnp": "rs754254864",
      "frequency_reference_population": 0.0000065731524,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.00000657315,
      "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": -0.1599999964237213,
      "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": -0.16,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.387,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4,BP7",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4",
            "BP7"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001412828.1",
          "gene_symbol": "SULF1",
          "hgnc_id": 20391,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.2194C>A",
          "hgvs_p": "p.Arg732Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}