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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: 13-102807617-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=102807617&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 102807617,
      "ref": "C",
      "alt": "T",
      "effect": "5_prime_UTR_premature_start_codon_gain_variant",
      "transcript": "ENST00000639132.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM-ERCC5",
          "gene_hgnc_id": 43690,
          "hgvs_c": "c.-338C>T",
          "hgvs_p": null,
          "transcript": "ENST00000639132.1",
          "protein_id": "ENSP00000492684.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1411,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4236,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5195,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "c.350C>T",
          "hgvs_p": "p.Ser117Leu",
          "transcript": "NM_017693.4",
          "protein_id": "NP_060163.2",
          "transcript_support_level": null,
          "aa_start": 117,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": 350,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": 959,
          "cdna_end": null,
          "cdna_length": 3789,
          "mane_select": "ENST00000257336.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "c.350C>T",
          "hgvs_p": "p.Ser117Leu",
          "transcript": "ENST00000257336.6",
          "protein_id": "ENSP00000257336.1",
          "transcript_support_level": 1,
          "aa_start": 117,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": 350,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": 959,
          "cdna_end": null,
          "cdna_length": 3789,
          "mane_select": "NM_017693.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM-ERCC5",
          "gene_hgnc_id": 43690,
          "hgvs_c": "c.350C>T",
          "hgvs_p": "p.Ser117Leu",
          "transcript": "ENST00000639435.1",
          "protein_id": "ENSP00000491742.1",
          "transcript_support_level": 5,
          "aa_start": 117,
          "aa_end": null,
          "aa_length": 1640,
          "cds_start": 350,
          "cds_end": null,
          "cds_length": 4923,
          "cdna_start": 968,
          "cdna_end": null,
          "cdna_length": 5632,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "n.636C>T",
          "hgvs_p": null,
          "transcript": "ENST00000474443.2",
          "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": 1586,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM-ERCC5",
          "gene_hgnc_id": 43690,
          "hgvs_c": "c.-338C>T",
          "hgvs_p": null,
          "transcript": "ENST00000639132.1",
          "protein_id": "ENSP00000492684.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1411,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4236,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5195,
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "c.-210+8096C>T",
          "hgvs_p": null,
          "transcript": "ENST00000448849.3",
          "protein_id": "ENSP00000412794.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 846,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1588,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "c.-338C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651008.1",
          "protein_id": "ENSP00000498638.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 274,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2863,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "c.-338C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651949.1",
          "protein_id": "ENSP00000498968.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 274,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2033,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM-ERCC5",
          "gene_hgnc_id": 43690,
          "hgvs_c": "c.350C>T",
          "hgvs_p": "p.Ser117Leu",
          "transcript": "NM_001204425.2",
          "protein_id": "NP_001191354.2",
          "transcript_support_level": null,
          "aa_start": 117,
          "aa_end": null,
          "aa_length": 1640,
          "cds_start": 350,
          "cds_end": null,
          "cds_length": 4923,
          "cdna_start": 472,
          "cdna_end": null,
          "cdna_length": 5137,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "c.443C>T",
          "hgvs_p": "p.Ser148Leu",
          "transcript": "ENST00000651228.1",
          "protein_id": "ENSP00000498493.1",
          "transcript_support_level": null,
          "aa_start": 148,
          "aa_end": null,
          "aa_length": 534,
          "cds_start": 443,
          "cds_end": null,
          "cds_length": 1605,
          "cdna_start": 1229,
          "cdna_end": null,
          "cdna_length": 2896,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "c.350C>T",
          "hgvs_p": "p.Ser117Leu",
          "transcript": "ENST00000652084.1",
          "protein_id": "ENSP00000498544.1",
          "transcript_support_level": null,
          "aa_start": 117,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": 350,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": 714,
          "cdna_end": null,
          "cdna_length": 1962,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "n.350C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651048.1",
          "protein_id": "ENSP00000498297.1",
          "transcript_support_level": null,
          "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": 2060,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "n.350C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651808.1",
          "protein_id": "ENSP00000498252.1",
          "transcript_support_level": null,
          "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": 2870,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "n.*440C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651855.1",
          "protein_id": "ENSP00000498508.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2988,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "n.350C>T",
          "hgvs_p": null,
          "transcript": "ENST00000652006.1",
          "protein_id": "ENSP00000498585.1",
          "transcript_support_level": null,
          "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": 2587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "n.522C>T",
          "hgvs_p": null,
          "transcript": "ENST00000652643.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3002,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "n.350C>T",
          "hgvs_p": null,
          "transcript": "ENST00000652766.1",
          "protein_id": "ENSP00000499207.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2625,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "c.-338C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651008.1",
          "protein_id": "ENSP00000498638.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 274,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2863,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "c.-338C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651949.1",
          "protein_id": "ENSP00000498968.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 274,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2033,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "n.*440C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651855.1",
          "protein_id": "ENSP00000498508.1",
          "transcript_support_level": null,
          "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": 2988,
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "c.-210+8096C>T",
          "hgvs_p": null,
          "transcript": "NM_001159596.2",
          "protein_id": "NP_001153068.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 846,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3126,
          "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": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIVM",
          "gene_hgnc_id": 16034,
          "hgvs_c": "n.*217C>T",
          "hgvs_p": null,
          "transcript": "ENST00000491929.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 674,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "BIVM-ERCC5",
      "gene_hgnc_id": 43690,
      "dbsnp": "rs776520067",
      "frequency_reference_population": 0.000004337083,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 7,
      "gnomad_exomes_af": 0.00000410431,
      "gnomad_genomes_af": 0.00000657419,
      "gnomad_exomes_ac": 6,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.3944112956523895,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.192,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1056,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.2,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 4.186,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000639132.1",
          "gene_symbol": "BIVM-ERCC5",
          "hgnc_id": 43690,
          "effects": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.-338C>T",
          "hgvs_p": null
        },
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000257336.6",
          "gene_symbol": "BIVM",
          "hgnc_id": 16034,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.350C>T",
          "hgvs_p": "p.Ser117Leu"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}