← 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: 3-113278222-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113278222&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 113278222,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000682979.1",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu",
          "transcript": "NM_001378074.1",
          "protein_id": "NP_001365003.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2299,
          "cdna_end": null,
          "cdna_length": 4574,
          "mane_select": "ENST00000682979.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu",
          "transcript": "ENST00000682979.1",
          "protein_id": "ENSP00000507783.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2299,
          "cdna_end": null,
          "cdna_length": 4574,
          "mane_select": "NM_001378074.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu",
          "transcript": "ENST00000273395.8",
          "protein_id": "ENSP00000273395.4",
          "transcript_support_level": 1,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2009,
          "cdna_end": null,
          "cdna_length": 4276,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "ENST00000495514.5",
          "protein_id": "ENSP00000418663.1",
          "transcript_support_level": 1,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": 2371,
          "cdna_end": null,
          "cdna_length": 4646,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu",
          "transcript": "NM_001301861.2",
          "protein_id": "NP_001288790.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2421,
          "cdna_end": null,
          "cdna_length": 4696,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu",
          "transcript": "NM_001378073.1",
          "protein_id": "NP_001365002.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2303,
          "cdna_end": null,
          "cdna_length": 4578,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu",
          "transcript": "NM_001387919.1",
          "protein_id": "NP_001374848.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2417,
          "cdna_end": null,
          "cdna_length": 4692,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "NM_001378075.1",
          "protein_id": "NP_001365004.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": 2442,
          "cdna_end": null,
          "cdna_length": 4717,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "NM_001387920.1",
          "protein_id": "NP_001374849.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": 2246,
          "cdna_end": null,
          "cdna_length": 4521,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "NM_001387921.1",
          "protein_id": "NP_001374850.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": 2242,
          "cdna_end": null,
          "cdna_length": 4517,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "NM_033254.4",
          "protein_id": "NP_150279.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": 2296,
          "cdna_end": null,
          "cdna_length": 4571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "ENST00000355385.7",
          "protein_id": "ENSP00000347546.3",
          "transcript_support_level": 5,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": 2006,
          "cdna_end": null,
          "cdna_length": 4278,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1397G>A",
          "hgvs_p": "p.Gly466Glu",
          "transcript": "NM_001387924.1",
          "protein_id": "NP_001374853.1",
          "transcript_support_level": null,
          "aa_start": 466,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 1397,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 2026,
          "cdna_end": null,
          "cdna_length": 4301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "NM_001387925.1",
          "protein_id": "NP_001374854.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 998,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 2997,
          "cdna_start": 2300,
          "cdna_end": null,
          "cdna_length": 4381,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu",
          "transcript": "NM_001387926.1",
          "protein_id": "NP_001374855.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": 2299,
          "cdna_end": null,
          "cdna_length": 3264,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "NM_001387927.1",
          "protein_id": "NP_001374856.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 870,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 2613,
          "cdna_start": 2300,
          "cdna_end": null,
          "cdna_length": 3265,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "NM_001387928.1",
          "protein_id": "NP_001374857.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 870,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 2613,
          "cdna_start": 2242,
          "cdna_end": null,
          "cdna_length": 3207,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1679G>A",
          "hgvs_p": "p.Gly560Glu",
          "transcript": "XM_047449173.1",
          "protein_id": "XP_047305129.1",
          "transcript_support_level": null,
          "aa_start": 560,
          "aa_end": null,
          "aa_length": 1152,
          "cds_start": 1679,
          "cds_end": null,
          "cds_length": 3459,
          "cdna_start": 1854,
          "cdna_end": null,
          "cdna_length": 4231,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1679G>A",
          "hgvs_p": "p.Gly560Glu",
          "transcript": "XM_047449175.1",
          "protein_id": "XP_047305131.1",
          "transcript_support_level": null,
          "aa_start": 560,
          "aa_end": null,
          "aa_length": 1152,
          "cds_start": 1679,
          "cds_end": null,
          "cds_length": 3459,
          "cdna_start": 1850,
          "cdna_end": null,
          "cdna_length": 4227,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1679G>A",
          "hgvs_p": "p.Gly560Glu",
          "transcript": "XM_047449176.1",
          "protein_id": "XP_047305132.1",
          "transcript_support_level": null,
          "aa_start": 560,
          "aa_end": null,
          "aa_length": 1152,
          "cds_start": 1679,
          "cds_end": null,
          "cds_length": 3459,
          "cdna_start": 1894,
          "cdna_end": null,
          "cdna_length": 4271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1676G>A",
          "hgvs_p": "p.Gly559Glu",
          "transcript": "XM_047449177.1",
          "protein_id": "XP_047305133.1",
          "transcript_support_level": null,
          "aa_start": 559,
          "aa_end": null,
          "aa_length": 1151,
          "cds_start": 1676,
          "cds_end": null,
          "cds_length": 3456,
          "cdna_start": 1851,
          "cdna_end": null,
          "cdna_length": 4228,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu",
          "transcript": "XM_047449178.1",
          "protein_id": "XP_047305134.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 1149,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 3450,
          "cdna_start": 1845,
          "cdna_end": null,
          "cdna_length": 4222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu",
          "transcript": "XM_047449179.1",
          "protein_id": "XP_047305135.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 1149,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 3450,
          "cdna_start": 1948,
          "cdna_end": null,
          "cdna_length": 4325,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "XM_047449180.1",
          "protein_id": "XP_047305136.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 1148,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 3447,
          "cdna_start": 1842,
          "cdna_end": null,
          "cdna_length": 4219,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1679G>A",
          "hgvs_p": "p.Gly560Glu",
          "transcript": "XM_017007446.2",
          "protein_id": "XP_016862935.1",
          "transcript_support_level": null,
          "aa_start": 560,
          "aa_end": null,
          "aa_length": 1118,
          "cds_start": 1679,
          "cds_end": null,
          "cds_length": 3357,
          "cdna_start": 1854,
          "cdna_end": null,
          "cdna_length": 4129,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1676G>A",
          "hgvs_p": "p.Gly559Glu",
          "transcript": "XM_017007450.3",
          "protein_id": "XP_016862939.1",
          "transcript_support_level": null,
          "aa_start": 559,
          "aa_end": null,
          "aa_length": 1117,
          "cds_start": 1676,
          "cds_end": null,
          "cds_length": 3354,
          "cdna_start": 1851,
          "cdna_end": null,
          "cdna_length": 4126,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu",
          "transcript": "XM_047449181.1",
          "protein_id": "XP_047305137.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 1845,
          "cdna_end": null,
          "cdna_length": 4120,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "XM_047449182.1",
          "protein_id": "XP_047305138.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": 1842,
          "cdna_end": null,
          "cdna_length": 4117,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1667G>A",
          "hgvs_p": "p.Gly556Glu",
          "transcript": "XM_047449183.1",
          "protein_id": "XP_047305139.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": 1838,
          "cdna_end": null,
          "cdna_length": 4113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1397G>A",
          "hgvs_p": "p.Gly466Glu",
          "transcript": "XM_047449185.1",
          "protein_id": "XP_047305141.1",
          "transcript_support_level": null,
          "aa_start": 466,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 1397,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 1572,
          "cdna_end": null,
          "cdna_length": 3949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1370G>A",
          "hgvs_p": "p.Gly457Glu",
          "transcript": "XM_047449186.1",
          "protein_id": "XP_047305142.1",
          "transcript_support_level": null,
          "aa_start": 457,
          "aa_end": null,
          "aa_length": 1049,
          "cds_start": 1370,
          "cds_end": null,
          "cds_length": 3150,
          "cdna_start": 1973,
          "cdna_end": null,
          "cdna_length": 4350,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1370G>A",
          "hgvs_p": "p.Gly457Glu",
          "transcript": "XM_047449187.1",
          "protein_id": "XP_047305143.1",
          "transcript_support_level": null,
          "aa_start": 457,
          "aa_end": null,
          "aa_length": 1049,
          "cds_start": 1370,
          "cds_end": null,
          "cds_length": 3150,
          "cdna_start": 1531,
          "cdna_end": null,
          "cdna_length": 3908,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1370G>A",
          "hgvs_p": "p.Gly457Glu",
          "transcript": "XM_047449188.1",
          "protein_id": "XP_047305144.1",
          "transcript_support_level": null,
          "aa_start": 457,
          "aa_end": null,
          "aa_length": 1049,
          "cds_start": 1370,
          "cds_end": null,
          "cds_length": 3150,
          "cdna_start": 1627,
          "cdna_end": null,
          "cdna_length": 4004,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1397G>A",
          "hgvs_p": "p.Gly466Glu",
          "transcript": "XM_047449189.1",
          "protein_id": "XP_047305145.1",
          "transcript_support_level": null,
          "aa_start": 466,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 1397,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": 1572,
          "cdna_end": null,
          "cdna_length": 3847,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1394G>A",
          "hgvs_p": "p.Gly465Glu",
          "transcript": "XM_047449190.1",
          "protein_id": "XP_047305146.1",
          "transcript_support_level": null,
          "aa_start": 465,
          "aa_end": null,
          "aa_length": 1023,
          "cds_start": 1394,
          "cds_end": null,
          "cds_length": 3072,
          "cdna_start": 1569,
          "cdna_end": null,
          "cdna_length": 3844,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1679G>A",
          "hgvs_p": "p.Gly560Glu",
          "transcript": "XM_047449191.1",
          "protein_id": "XP_047305147.1",
          "transcript_support_level": null,
          "aa_start": 560,
          "aa_end": null,
          "aa_length": 1014,
          "cds_start": 1679,
          "cds_end": null,
          "cds_length": 3045,
          "cdna_start": 1854,
          "cdna_end": null,
          "cdna_length": 3272,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1361G>A",
          "hgvs_p": "p.Gly454Glu",
          "transcript": "XM_047449184.1",
          "protein_id": "XP_047305140.1",
          "transcript_support_level": null,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 1012,
          "cds_start": 1361,
          "cds_end": null,
          "cds_length": 3039,
          "cdna_start": 1846,
          "cdna_end": null,
          "cdna_length": 4121,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "c.1142G>A",
          "hgvs_p": "p.Gly381Glu",
          "transcript": "XM_047449192.1",
          "protein_id": "XP_047305148.1",
          "transcript_support_level": null,
          "aa_start": 381,
          "aa_end": null,
          "aa_length": 973,
          "cds_start": 1142,
          "cds_end": null,
          "cds_length": 2922,
          "cdna_start": 1384,
          "cdna_end": null,
          "cdna_length": 3761,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "n.4028G>A",
          "hgvs_p": null,
          "transcript": "ENST00000466059.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 5750,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "n.2401G>A",
          "hgvs_p": null,
          "transcript": "ENST00000479182.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 4882,
          "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": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "n.338G>A",
          "hgvs_p": null,
          "transcript": "ENST00000497495.1",
          "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": 663,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BOC",
          "gene_hgnc_id": 17173,
          "hgvs_c": "n.2246G>A",
          "hgvs_p": null,
          "transcript": "NR_170866.1",
          "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": 4454,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "BOC",
      "gene_hgnc_id": 17173,
      "dbsnp": "rs1553745274",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9160821437835693,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.625,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.7575,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.22,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 9.594,
      "phylop100way_prediction": "Pathogenic",
      "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": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000682979.1",
          "gene_symbol": "BOC",
          "hgnc_id": 17173,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.1670G>A",
          "hgvs_p": "p.Gly557Glu"
        }
      ],
      "clinvar_disease": "Holoprosencephaly sequence",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Holoprosencephaly sequence",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}