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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: 19-12891260-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12891260&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 12891260,
      "ref": "C",
      "alt": "G",
      "effect": "5_prime_UTR_variant",
      "transcript": "ENST00000591470.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-45C>G",
          "hgvs_p": null,
          "transcript": "ENST00000591470.5",
          "protein_id": "ENSP00000466845.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1317,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000591470.5"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "NM_000159.4",
          "protein_id": "NP_000150.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1317,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000222214.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000159.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000222214.10",
          "protein_id": "ENSP00000222214.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1317,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000159.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000222214.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "n.24-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000590627.5",
          "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": "retained_intron",
          "feature": "ENST00000590627.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-45C>G",
          "hgvs_p": null,
          "transcript": "ENST00000909385.1",
          "protein_id": "ENSP00000579444.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 436,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1311,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909385.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-45C>G",
          "hgvs_p": null,
          "transcript": "ENST00000909383.1",
          "protein_id": "ENSP00000579442.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909383.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-45C>G",
          "hgvs_p": null,
          "transcript": "ENST00000909384.1",
          "protein_id": "ENSP00000579443.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 396,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1191,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909384.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000714069.1",
          "protein_id": "ENSP00000519360.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000714069.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000714068.1",
          "protein_id": "ENSP00000519359.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000714068.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000940009.1",
          "protein_id": "ENSP00000610068.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940009.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000587072.2",
          "protein_id": "ENSP00000468584.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1365,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000587072.2"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000591050.2",
          "protein_id": "ENSP00000467735.2",
          "transcript_support_level": 3,
          "aa_start": null,
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          "aa_length": 446,
          "cds_start": null,
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          "cds_length": 1341,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000909380.1",
          "protein_id": "ENSP00000579439.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 442,
          "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": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000714067.1",
          "protein_id": "ENSP00000519358.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": null,
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          "cds_length": 1326,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          ],
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          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
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          "transcript": "ENST00000714070.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000714070.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000909379.1",
          "protein_id": "ENSP00000579438.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000909381.1",
          "protein_id": "ENSP00000579440.1",
          "transcript_support_level": null,
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          "aa_length": 436,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000909381.1"
        },
        {
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          "consequences": [
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          ],
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
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          "transcript": "ENST00000590472.6",
          "protein_id": "ENSP00000468625.3",
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
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          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 1,
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          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "ENST00000714075.1",
          "protein_id": "ENSP00000519366.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000714075.1"
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "c.-34-11C>G",
          "hgvs_p": null,
          "transcript": "NM_013976.5",
          "protein_id": "NP_039663.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_013976.5"
        },
        {
          "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,
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          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000585760.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GCDH",
          "gene_hgnc_id": 4189,
          "hgvs_c": "n.-9C>G",
          "hgvs_p": null,
          "transcript": "ENST00000591043.1",
          "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": "retained_intron",
          "feature": "ENST00000591043.1"
        }
      ],
      "gene_symbol": "GCDH",
      "gene_hgnc_id": 4189,
      "dbsnp": "rs367715601",
      "frequency_reference_population": 0.000007233568,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 11,
      "gnomad_exomes_af": 0.00000511533,
      "gnomad_genomes_af": 0.0000262722,
      "gnomad_exomes_ac": 7,
      "gnomad_genomes_ac": 4,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8199999928474426,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.12800000607967377,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.82,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -3.004,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.05,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.00029770826093569,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000591470.5",
          "gene_symbol": "GCDH",
          "hgnc_id": 4189,
          "effects": [
            "5_prime_UTR_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-45C>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
}