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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: 10-125008303-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=125008303&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 125008303,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_022802.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "NM_001329.4",
          "protein_id": "NP_001320.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000337195.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001329.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000337195.11",
          "protein_id": "ENSP00000338615.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001329.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000337195.11"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.1679-4811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000309035.11",
          "protein_id": "ENSP00000311825.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 985,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2958,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000309035.11"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000411419.7",
          "protein_id": "ENSP00000410474.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000411419.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000494626.6",
          "protein_id": "ENSP00000436285.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000494626.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.1679-4811A>G",
          "hgvs_p": null,
          "transcript": "NM_022802.3",
          "protein_id": "NP_073713.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 985,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2958,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_022802.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.314-4811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000904093.1",
          "protein_id": "ENSP00000574152.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904093.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "NM_001083914.3",
          "protein_id": "NP_001077383.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001083914.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "NM_001290214.3",
          "protein_id": "NP_001277143.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001290214.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "NM_001290215.3",
          "protein_id": "NP_001277144.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001290215.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "NM_001321012.2",
          "protein_id": "NP_001307941.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321012.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
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          "transcript": "NM_001321013.2",
          "protein_id": "NP_001307942.1",
          "transcript_support_level": null,
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          "aa_length": 445,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001321013.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "NM_001321014.2",
          "protein_id": "NP_001307943.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 445,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000531469.5",
          "protein_id": "ENSP00000434630.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          ],
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          "gene_symbol": "CTBP2",
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          "transcript": "ENST00000904058.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000904058.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000904059.1",
          "protein_id": "ENSP00000574118.1",
          "transcript_support_level": null,
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          "aa_length": 445,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000904059.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
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          "transcript": "ENST00000904060.1",
          "protein_id": "ENSP00000574119.1",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "intron_rank": 2,
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          "gene_symbol": "CTBP2",
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          "hgvs_c": "c.59-4811A>G",
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          "transcript": "ENST00000904061.1",
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        {
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          ],
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          "exon_count": 10,
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          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
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          "transcript": "ENST00000904062.1",
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "c.59-4811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000904063.1",
          "protein_id": "ENSP00000574122.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": null,
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          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904063.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
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          "transcript": "XM_047424679.1",
          "protein_id": "XP_047280635.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 420,
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          "cds_length": 1263,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047424679.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
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          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "n.449-4811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000460976.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000460976.5"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CTBP2",
          "gene_hgnc_id": 2495,
          "hgvs_c": "n.72-4811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000493552.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000493552.1"
        }
      ],
      "gene_symbol": "CTBP2",
      "gene_hgnc_id": 2495,
      "dbsnp": "rs4962416",
      "frequency_reference_population": 0.22826216,
      "hom_count_reference_population": 4414,
      "allele_count_reference_population": 34731,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.228262,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 34731,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 4414,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -1.0099999904632568,
      "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": -1.01,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.084,
      "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": -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": "NM_022802.3",
          "gene_symbol": "CTBP2",
          "hgnc_id": 2495,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1679-4811A>G",
          "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
}