← 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: 17-39658439-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39658439&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 39658439,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_006804.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "NM_006804.4",
          "protein_id": "NP_006795.3",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": 603,
          "cdna_end": null,
          "cdna_length": 2770,
          "mane_select": "ENST00000336308.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": true,
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "ENST00000336308.10",
          "protein_id": "ENSP00000337446.5",
          "transcript_support_level": 1,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": 603,
          "cdna_end": null,
          "cdna_length": 2770,
          "mane_select": "NM_006804.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.386C>G",
          "hgvs_p": "p.Pro129Arg",
          "transcript": "ENST00000580611.5",
          "protein_id": "ENSP00000463613.1",
          "transcript_support_level": 5,
          "aa_start": 129,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 386,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 516,
          "cdna_end": null,
          "cdna_length": 1989,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.451C>G",
          "hgvs_p": "p.Pro151Ala",
          "transcript": "NM_001165937.2",
          "protein_id": "NP_001159409.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": 590,
          "cdna_end": null,
          "cdna_length": 2770,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.451C>G",
          "hgvs_p": "p.Pro151Ala",
          "transcript": "ENST00000544210.6",
          "protein_id": "ENSP00000439869.2",
          "transcript_support_level": 2,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": 593,
          "cdna_end": null,
          "cdna_length": 1666,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.410C>G",
          "hgvs_p": "p.Pro137Arg",
          "transcript": "NM_001165938.2",
          "protein_id": "NP_001159410.1",
          "transcript_support_level": null,
          "aa_start": 137,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 410,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": 549,
          "cdna_end": null,
          "cdna_length": 2716,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.410C>G",
          "hgvs_p": "p.Pro137Arg",
          "transcript": "ENST00000394250.8",
          "protein_id": "ENSP00000377794.4",
          "transcript_support_level": 2,
          "aa_start": 137,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 410,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": 549,
          "cdna_end": null,
          "cdna_length": 1949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "ENST00000443521.1",
          "protein_id": "ENSP00000411710.1",
          "transcript_support_level": 5,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 195,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 588,
          "cdna_start": 549,
          "cdna_end": null,
          "cdna_length": 673,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "ENST00000583419.5",
          "protein_id": "ENSP00000463681.1",
          "transcript_support_level": 4,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 485,
          "cdna_start": 558,
          "cdna_end": null,
          "cdna_length": 579,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.451C>G",
          "hgvs_p": "p.Pro151Ala",
          "transcript": "ENST00000577248.5",
          "protein_id": "ENSP00000463460.1",
          "transcript_support_level": 4,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 155,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 470,
          "cdna_start": 552,
          "cdna_end": null,
          "cdna_length": 571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "XM_047435159.1",
          "protein_id": "XP_047291115.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": 603,
          "cdna_end": null,
          "cdna_length": 2793,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "XM_047435160.1",
          "protein_id": "XP_047291116.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": 598,
          "cdna_end": null,
          "cdna_length": 2788,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "XM_047435162.1",
          "protein_id": "XP_047291118.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": 887,
          "cdna_end": null,
          "cdna_length": 3077,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "XM_047435163.1",
          "protein_id": "XP_047291119.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": 534,
          "cdna_end": null,
          "cdna_length": 2724,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "XM_047435164.1",
          "protein_id": "XP_047291120.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 468,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1407,
          "cdna_start": 603,
          "cdna_end": null,
          "cdna_length": 2694,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "XM_017024041.3",
          "protein_id": "XP_016879530.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": 598,
          "cdna_end": null,
          "cdna_length": 2765,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "XM_047435165.1",
          "protein_id": "XP_047291121.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": 887,
          "cdna_end": null,
          "cdna_length": 3054,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "XM_047435166.1",
          "protein_id": "XP_047291122.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": 603,
          "cdna_end": null,
          "cdna_length": 2671,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "XM_047435167.1",
          "protein_id": "XP_047291123.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": 598,
          "cdna_end": null,
          "cdna_length": 2666,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.451C>G",
          "hgvs_p": "p.Pro151Ala",
          "transcript": "XM_047435168.1",
          "protein_id": "XP_047291124.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": 590,
          "cdna_end": null,
          "cdna_length": 1131,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg",
          "transcript": "XM_047435169.1",
          "protein_id": "XP_047291125.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 846,
          "cdna_start": 603,
          "cdna_end": null,
          "cdna_length": 1024,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "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": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.451C>G",
          "hgvs_p": "p.Pro151Ala",
          "transcript": "XM_047435170.1",
          "protein_id": "XP_047291126.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 280,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 843,
          "cdna_start": 590,
          "cdna_end": null,
          "cdna_length": 1080,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.451C>G",
          "hgvs_p": "p.Pro151Ala",
          "transcript": "XM_047435171.1",
          "protein_id": "XP_047291127.1",
          "transcript_support_level": null,
          "aa_start": 151,
          "aa_end": null,
          "aa_length": 264,
          "cds_start": 451,
          "cds_end": null,
          "cds_length": 795,
          "cdna_start": 590,
          "cdna_end": null,
          "cdna_length": 1032,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "n.529C>G",
          "hgvs_p": null,
          "transcript": "ENST00000481171.5",
          "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": 3451,
          "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": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "n.662C>G",
          "hgvs_p": null,
          "transcript": "ENST00000484773.6",
          "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": 916,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "n.954C>G",
          "hgvs_p": null,
          "transcript": "ENST00000488876.5",
          "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": 2404,
          "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": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "n.520C>G",
          "hgvs_p": null,
          "transcript": "ENST00000578232.5",
          "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": 851,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "n.397C>G",
          "hgvs_p": null,
          "transcript": "ENST00000578577.5",
          "protein_id": "ENSP00000464472.1",
          "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": 1511,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "n.453C>G",
          "hgvs_p": null,
          "transcript": "ENST00000582874.1",
          "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": 591,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "n.970C>G",
          "hgvs_p": null,
          "transcript": "ENST00000583582.5",
          "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": 1350,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "n.46C>G",
          "hgvs_p": null,
          "transcript": "ENST00000585269.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 1346,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "n.-7C>G",
          "hgvs_p": null,
          "transcript": "ENST00000584850.5",
          "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": 2442,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "n.*143C>G",
          "hgvs_p": null,
          "transcript": "ENST00000585214.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 566,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "STARD3",
      "gene_hgnc_id": 17579,
      "dbsnp": "rs771566450",
      "frequency_reference_population": 0.0000020521998,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 3,
      "gnomad_exomes_af": 0.0000020522,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 3,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6267073154449463,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.499,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.9972,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.12,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 7.568,
      "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": 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_006804.4",
          "gene_symbol": "STARD3",
          "hgnc_id": 17579,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.464C>G",
          "hgvs_p": "p.Pro155Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}