← 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: 9-2645603-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2645603&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 2645603,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000382100.8",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "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": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.1342C>G",
          "hgvs_p": "p.Arg448Gly",
          "transcript": "NM_003383.5",
          "protein_id": "NP_003374.3",
          "transcript_support_level": null,
          "aa_start": 448,
          "aa_end": null,
          "aa_length": 873,
          "cds_start": 1342,
          "cds_end": null,
          "cds_length": 2622,
          "cdna_start": 1745,
          "cdna_end": null,
          "cdna_length": 9213,
          "mane_select": "ENST00000382100.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "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": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.1342C>G",
          "hgvs_p": "p.Arg448Gly",
          "transcript": "ENST00000382100.8",
          "protein_id": "ENSP00000371532.2",
          "transcript_support_level": 1,
          "aa_start": 448,
          "aa_end": null,
          "aa_length": 873,
          "cds_start": 1342,
          "cds_end": null,
          "cds_length": 2622,
          "cdna_start": 1745,
          "cdna_end": null,
          "cdna_length": 9213,
          "mane_select": "NM_003383.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.898C>G",
          "hgvs_p": "p.Arg300Gly",
          "transcript": "ENST00000382099.3",
          "protein_id": "ENSP00000371531.3",
          "transcript_support_level": 1,
          "aa_start": 300,
          "aa_end": null,
          "aa_length": 725,
          "cds_start": 898,
          "cds_end": null,
          "cds_length": 2178,
          "cdna_start": 900,
          "cdna_end": null,
          "cdna_length": 2746,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.1342C>G",
          "hgvs_p": "p.Arg448Gly",
          "transcript": "NM_001018056.3",
          "protein_id": "NP_001018066.1",
          "transcript_support_level": null,
          "aa_start": 448,
          "aa_end": null,
          "aa_length": 845,
          "cds_start": 1342,
          "cds_end": null,
          "cds_length": 2538,
          "cdna_start": 1745,
          "cdna_end": null,
          "cdna_length": 9129,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.1342C>G",
          "hgvs_p": "p.Arg448Gly",
          "transcript": "ENST00000681306.1",
          "protein_id": "ENSP00000506072.1",
          "transcript_support_level": null,
          "aa_start": 448,
          "aa_end": null,
          "aa_length": 845,
          "cds_start": 1342,
          "cds_end": null,
          "cds_length": 2538,
          "cdna_start": 1479,
          "cdna_end": null,
          "cdna_length": 5723,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "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": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.1219C>G",
          "hgvs_p": "p.Arg407Gly",
          "transcript": "NM_001322225.2",
          "protein_id": "NP_001309154.1",
          "transcript_support_level": null,
          "aa_start": 407,
          "aa_end": null,
          "aa_length": 832,
          "cds_start": 1219,
          "cds_end": null,
          "cds_length": 2499,
          "cdna_start": 1622,
          "cdna_end": null,
          "cdna_length": 9090,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "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": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.1219C>G",
          "hgvs_p": "p.Arg407Gly",
          "transcript": "ENST00000680746.1",
          "protein_id": "ENSP00000505030.1",
          "transcript_support_level": null,
          "aa_start": 407,
          "aa_end": null,
          "aa_length": 832,
          "cds_start": 1219,
          "cds_end": null,
          "cds_length": 2499,
          "cdna_start": 1842,
          "cdna_end": null,
          "cdna_length": 5185,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.1219C>G",
          "hgvs_p": "p.Arg407Gly",
          "transcript": "NM_001322226.2",
          "protein_id": "NP_001309155.1",
          "transcript_support_level": null,
          "aa_start": 407,
          "aa_end": null,
          "aa_length": 804,
          "cds_start": 1219,
          "cds_end": null,
          "cds_length": 2415,
          "cdna_start": 1622,
          "cdna_end": null,
          "cdna_length": 9006,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.1219C>G",
          "hgvs_p": "p.Arg407Gly",
          "transcript": "ENST00000681618.1",
          "protein_id": "ENSP00000505773.1",
          "transcript_support_level": null,
          "aa_start": 407,
          "aa_end": null,
          "aa_length": 804,
          "cds_start": 1219,
          "cds_end": null,
          "cds_length": 2415,
          "cdna_start": 1299,
          "cdna_end": null,
          "cdna_length": 4666,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.907C>G",
          "hgvs_p": "p.Arg303Gly",
          "transcript": "ENST00000680219.1",
          "protein_id": "ENSP00000506614.1",
          "transcript_support_level": null,
          "aa_start": 303,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": 907,
          "cds_end": null,
          "cds_length": 1816,
          "cdna_start": 909,
          "cdna_end": null,
          "cdna_length": 1818,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.766C>G",
          "hgvs_p": "p.Arg256Gly",
          "transcript": "ENST00000680296.1",
          "protein_id": "ENSP00000506448.1",
          "transcript_support_level": null,
          "aa_start": 256,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 766,
          "cds_end": null,
          "cds_length": 1675,
          "cdna_start": 768,
          "cdna_end": null,
          "cdna_length": 1677,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "c.1342C>G",
          "hgvs_p": "p.Arg448Gly",
          "transcript": "XM_047423848.1",
          "protein_id": "XP_047279804.1",
          "transcript_support_level": null,
          "aa_start": 448,
          "aa_end": null,
          "aa_length": 498,
          "cds_start": 1342,
          "cds_end": null,
          "cds_length": 1497,
          "cdna_start": 1745,
          "cdna_end": null,
          "cdna_length": 2011,
          "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": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.787C>G",
          "hgvs_p": null,
          "transcript": "ENST00000478776.2",
          "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": 1911,
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.578C>G",
          "hgvs_p": null,
          "transcript": "ENST00000679718.1",
          "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": 3021,
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.758C>G",
          "hgvs_p": null,
          "transcript": "ENST00000679750.1",
          "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": 4079,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.1526C>G",
          "hgvs_p": null,
          "transcript": "ENST00000679851.1",
          "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": 3951,
          "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": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.1542C>G",
          "hgvs_p": null,
          "transcript": "ENST00000680021.1",
          "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": 2875,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.892C>G",
          "hgvs_p": null,
          "transcript": "ENST00000680043.1",
          "protein_id": "ENSP00000505223.1",
          "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": 3519,
          "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": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.*1121C>G",
          "hgvs_p": null,
          "transcript": "ENST00000680243.1",
          "protein_id": "ENSP00000505911.1",
          "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": 3068,
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.425C>G",
          "hgvs_p": null,
          "transcript": "ENST00000680332.1",
          "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": 5594,
          "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": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.747C>G",
          "hgvs_p": null,
          "transcript": "ENST00000680751.1",
          "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": 3532,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.*1134C>G",
          "hgvs_p": null,
          "transcript": "ENST00000680891.1",
          "protein_id": "ENSP00000505167.1",
          "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": 4386,
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.727C>G",
          "hgvs_p": null,
          "transcript": "ENST00000680975.1",
          "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": 2421,
          "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": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.787C>G",
          "hgvs_p": null,
          "transcript": "ENST00000681087.1",
          "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": 1666,
          "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": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.*1014C>G",
          "hgvs_p": null,
          "transcript": "ENST00000681644.1",
          "protein_id": "ENSP00000505180.1",
          "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": 5087,
          "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": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.1342C>G",
          "hgvs_p": null,
          "transcript": "ENST00000681806.1",
          "protein_id": "ENSP00000505282.1",
          "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": 3239,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.*12C>G",
          "hgvs_p": null,
          "transcript": "ENST00000681942.1",
          "protein_id": "ENSP00000505430.1",
          "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": 2618,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.*1121C>G",
          "hgvs_p": null,
          "transcript": "ENST00000680243.1",
          "protein_id": "ENSP00000505911.1",
          "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": 3068,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.*1134C>G",
          "hgvs_p": null,
          "transcript": "ENST00000680891.1",
          "protein_id": "ENSP00000505167.1",
          "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": 4386,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.*1014C>G",
          "hgvs_p": null,
          "transcript": "ENST00000681644.1",
          "protein_id": "ENSP00000505180.1",
          "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": 5087,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "VLDLR",
          "gene_hgnc_id": 12698,
          "hgvs_c": "n.*12C>G",
          "hgvs_p": null,
          "transcript": "ENST00000681942.1",
          "protein_id": "ENSP00000505430.1",
          "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": 2618,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "VLDLR",
      "gene_hgnc_id": 12698,
      "dbsnp": "rs80338905",
      "frequency_reference_population": 6.8404506e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84045e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.8861202001571655,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.708,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.2142,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.31,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 2.469,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 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": "ENST00000382100.8",
          "gene_symbol": "VLDLR",
          "hgnc_id": 12698,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1342C>G",
          "hgvs_p": "p.Arg448Gly"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}