← Back to variant description

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: 16-56466941-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56466941&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 56466941,
      "ref": "G",
      "alt": "T",
      "effect": "stop_gained",
      "transcript": "NM_018233.4",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.631G>T",
          "hgvs_p": "p.Glu211*",
          "transcript": "NM_018233.4",
          "protein_id": "NP_060703.3",
          "transcript_support_level": null,
          "aa_start": 211,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": 631,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000566157.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018233.4"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.631G>T",
          "hgvs_p": "p.Glu211*",
          "transcript": "ENST00000566157.6",
          "protein_id": "ENSP00000457258.1",
          "transcript_support_level": 1,
          "aa_start": 211,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": 631,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_018233.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000566157.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288725",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1086+17820C>A",
          "hgvs_p": null,
          "transcript": "ENST00000684388.1",
          "protein_id": "ENSP00000507647.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000684388.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.631G>T",
          "hgvs_p": "p.Glu211*",
          "transcript": "ENST00000924152.1",
          "protein_id": "ENSP00000594211.1",
          "transcript_support_level": null,
          "aa_start": 211,
          "aa_end": null,
          "aa_length": 553,
          "cds_start": 631,
          "cds_end": null,
          "cds_length": 1662,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000924152.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.628G>T",
          "hgvs_p": "p.Glu210*",
          "transcript": "NM_001324357.2",
          "protein_id": "NP_001311286.1",
          "transcript_support_level": null,
          "aa_start": 210,
          "aa_end": null,
          "aa_length": 541,
          "cds_start": 628,
          "cds_end": null,
          "cds_length": 1626,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324357.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.628G>T",
          "hgvs_p": "p.Glu210*",
          "transcript": "ENST00000877350.1",
          "protein_id": "ENSP00000547409.1",
          "transcript_support_level": null,
          "aa_start": 210,
          "aa_end": null,
          "aa_length": 541,
          "cds_start": 628,
          "cds_end": null,
          "cds_length": 1626,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877350.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.631G>T",
          "hgvs_p": "p.Glu211*",
          "transcript": "ENST00000966422.1",
          "protein_id": "ENSP00000636481.1",
          "transcript_support_level": null,
          "aa_start": 211,
          "aa_end": null,
          "aa_length": 540,
          "cds_start": 631,
          "cds_end": null,
          "cds_length": 1623,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000966422.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.631G>T",
          "hgvs_p": "p.Glu211*",
          "transcript": "NM_001324363.2",
          "protein_id": "NP_001311292.1",
          "transcript_support_level": null,
          "aa_start": 211,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 631,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324363.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.631G>T",
          "hgvs_p": "p.Glu211*",
          "transcript": "ENST00000877349.1",
          "protein_id": "ENSP00000547408.1",
          "transcript_support_level": null,
          "aa_start": 211,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 631,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877349.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.631G>T",
          "hgvs_p": "p.Glu211*",
          "transcript": "ENST00000568397.1",
          "protein_id": "ENSP00000457746.1",
          "transcript_support_level": 5,
          "aa_start": 211,
          "aa_end": null,
          "aa_length": 499,
          "cds_start": 631,
          "cds_end": null,
          "cds_length": 1500,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000568397.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.466G>T",
          "hgvs_p": "p.Glu156*",
          "transcript": "NM_001324358.2",
          "protein_id": "NP_001311287.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324358.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.466G>T",
          "hgvs_p": "p.Glu156*",
          "transcript": "NM_001324361.1",
          "protein_id": "NP_001311290.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324361.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.340G>T",
          "hgvs_p": "p.Glu114*",
          "transcript": "NM_001324359.1",
          "protein_id": "NP_001311288.1",
          "transcript_support_level": null,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 340,
          "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_001324359.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.340G>T",
          "hgvs_p": "p.Glu114*",
          "transcript": "NM_001324360.2",
          "protein_id": "NP_001311289.1",
          "transcript_support_level": null,
          "aa_start": 114,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 340,
          "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_001324360.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.211G>T",
          "hgvs_p": "p.Glu71*",
          "transcript": "NM_001324362.1",
          "protein_id": "NP_001311291.1",
          "transcript_support_level": null,
          "aa_start": 71,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": 211,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001324362.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.466G>T",
          "hgvs_p": "p.Glu156*",
          "transcript": "ENST00000561646.5",
          "protein_id": "ENSP00000457553.1",
          "transcript_support_level": 2,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 174,
          "cds_start": 466,
          "cds_end": null,
          "cds_length": 526,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000561646.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BBS2",
          "gene_hgnc_id": 967,
          "hgvs_c": "c.*34C>A",
          "hgvs_p": null,
          "transcript": "ENST00000682470.1",
          "protein_id": "ENSP00000507654.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 721,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2166,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000682470.1"
        },
        {
          "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "BBS2",
          "gene_hgnc_id": 967,
          "hgvs_c": "c.*1-689C>A",
          "hgvs_p": null,
          "transcript": "ENST00000682205.1",
          "protein_id": "ENSP00000508377.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 721,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2166,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000682205.1"
        },
        {
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "c.301-9103G>T",
          "hgvs_p": null,
          "transcript": "ENST00000924153.1",
          "protein_id": "ENSP00000594212.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 153,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 462,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000924153.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "n.*318G>T",
          "hgvs_p": null,
          "transcript": "ENST00000336111.9",
          "protein_id": "ENSP00000337196.5",
          "transcript_support_level": 2,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000336111.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OGFOD1",
          "gene_hgnc_id": 25585,
          "hgvs_c": "n.*318G>T",
          "hgvs_p": null,
          "transcript": "ENST00000336111.9",
          "protein_id": "ENSP00000337196.5",
          "transcript_support_level": 2,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000336111.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "BBS2",
          "gene_hgnc_id": 967,
          "hgvs_c": "n.946-689C>A",
          "hgvs_p": null,
          "transcript": "ENST00000618027.2",
          "protein_id": null,
          "transcript_support_level": 6,
          "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": "ENST00000618027.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "BBS2",
          "gene_hgnc_id": 967,
          "hgvs_c": "n.*1591-689C>A",
          "hgvs_p": null,
          "transcript": "ENST00000683384.1",
          "protein_id": "ENSP00000508330.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000683384.1"
        }
      ],
      "gene_symbol": "OGFOD1",
      "gene_hgnc_id": 25585,
      "dbsnp": "rs1399117827",
      "frequency_reference_population": 0.0000013689742,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000136897,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6600000262260437,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.25999999046325684,
      "splice_prediction_selected": "Uncertain_significance",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.66,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 9.378,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0.26,
      "spliceai_max_prediction": "Uncertain_significance",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_018233.4",
          "gene_symbol": "OGFOD1",
          "hgnc_id": 25585,
          "effects": [
            "stop_gained"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.631G>T",
          "hgvs_p": "p.Glu211*"
        },
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000684388.1",
          "gene_symbol": "ENSG00000288725",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.1086+17820C>A",
          "hgvs_p": null
        },
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000682470.1",
          "gene_symbol": "BBS2",
          "hgnc_id": 967,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.*34C>A",
          "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
}