← 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: 12-32625740-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32625740&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 32625740,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "ENST00000534526.7",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.2133A>G",
          "hgvs_p": "p.Ala711Ala",
          "transcript": "NM_001370298.3",
          "protein_id": "NP_001357227.2",
          "transcript_support_level": null,
          "aa_start": 711,
          "aa_end": null,
          "aa_length": 903,
          "cds_start": 2133,
          "cds_end": null,
          "cds_length": 2712,
          "cdna_start": 2369,
          "cdna_end": null,
          "cdna_length": 8465,
          "mane_select": "ENST00000534526.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.2133A>G",
          "hgvs_p": "p.Ala711Ala",
          "transcript": "ENST00000534526.7",
          "protein_id": "ENSP00000449273.1",
          "transcript_support_level": 5,
          "aa_start": 711,
          "aa_end": null,
          "aa_length": 903,
          "cds_start": 2133,
          "cds_end": null,
          "cds_length": 2712,
          "cdna_start": 2369,
          "cdna_end": null,
          "cdna_length": 8465,
          "mane_select": "NM_001370298.3",
          "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": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.*1114A>G",
          "hgvs_p": null,
          "transcript": "ENST00000395740.5",
          "protein_id": "ENSP00000379089.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2691,
          "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": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.*1114A>G",
          "hgvs_p": null,
          "transcript": "ENST00000395740.5",
          "protein_id": "ENSP00000379089.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2691,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.2133A>G",
          "hgvs_p": "p.Ala711Ala",
          "transcript": "NM_001384126.1",
          "protein_id": "NP_001371055.1",
          "transcript_support_level": null,
          "aa_start": 711,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 2133,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2369,
          "cdna_end": null,
          "cdna_length": 4325,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1977A>G",
          "hgvs_p": "p.Ala659Ala",
          "transcript": "NM_001304481.2",
          "protein_id": "NP_001291410.1",
          "transcript_support_level": null,
          "aa_start": 659,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 1977,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 2139,
          "cdna_end": null,
          "cdna_length": 8235,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1977A>G",
          "hgvs_p": "p.Ala659Ala",
          "transcript": "ENST00000531134.7",
          "protein_id": "ENSP00000431323.1",
          "transcript_support_level": 2,
          "aa_start": 659,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 1977,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 2139,
          "cdna_end": null,
          "cdna_length": 2924,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1722A>G",
          "hgvs_p": "p.Ala574Ala",
          "transcript": "NM_001385118.1",
          "protein_id": "NP_001372047.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1722,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2144,
          "cdna_end": null,
          "cdna_length": 8240,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1722A>G",
          "hgvs_p": "p.Ala574Ala",
          "transcript": "NM_139241.3",
          "protein_id": "NP_640334.2",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1722,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2263,
          "cdna_end": null,
          "cdna_length": 8359,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1722A>G",
          "hgvs_p": "p.Ala574Ala",
          "transcript": "ENST00000427716.7",
          "protein_id": "ENSP00000394487.2",
          "transcript_support_level": 2,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1722,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2271,
          "cdna_end": null,
          "cdna_length": 7194,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1722A>G",
          "hgvs_p": "p.Ala574Ala",
          "transcript": "ENST00000525053.6",
          "protein_id": "ENSP00000433666.2",
          "transcript_support_level": 2,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1722,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2142,
          "cdna_end": null,
          "cdna_length": 2925,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1722A>G",
          "hgvs_p": "p.Ala574Ala",
          "transcript": "ENST00000583694.2",
          "protein_id": "ENSP00000462623.2",
          "transcript_support_level": 3,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1722,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2146,
          "cdna_end": null,
          "cdna_length": 2931,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1722A>G",
          "hgvs_p": "p.Ala574Ala",
          "transcript": "NM_001384127.1",
          "protein_id": "NP_001371056.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": 1722,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": 2143,
          "cdna_end": null,
          "cdna_length": 4099,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1722A>G",
          "hgvs_p": "p.Ala574Ala",
          "transcript": "NM_001384128.1",
          "protein_id": "NP_001371057.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": 1722,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": 2144,
          "cdna_end": null,
          "cdna_length": 4100,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1443A>G",
          "hgvs_p": "p.Ala481Ala",
          "transcript": "NM_001330373.2",
          "protein_id": "NP_001317302.1",
          "transcript_support_level": null,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1443,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 1959,
          "cdna_end": null,
          "cdna_length": 8055,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1443A>G",
          "hgvs_p": "p.Ala481Ala",
          "transcript": "NM_001330374.2",
          "protein_id": "NP_001317303.1",
          "transcript_support_level": null,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1443,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 1955,
          "cdna_end": null,
          "cdna_length": 8051,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1443A>G",
          "hgvs_p": "p.Ala481Ala",
          "transcript": "NM_001384130.1",
          "protein_id": "NP_001371059.1",
          "transcript_support_level": null,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1443,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 1960,
          "cdna_end": null,
          "cdna_length": 8056,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1443A>G",
          "hgvs_p": "p.Ala481Ala",
          "transcript": "ENST00000546442.5",
          "protein_id": "ENSP00000446695.1",
          "transcript_support_level": 5,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1443,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 1938,
          "cdna_end": null,
          "cdna_length": 3503,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1443A>G",
          "hgvs_p": "p.Ala481Ala",
          "transcript": "ENST00000682739.1",
          "protein_id": "ENSP00000507616.1",
          "transcript_support_level": null,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1443,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 2677,
          "cdna_end": null,
          "cdna_length": 3373,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1170A>G",
          "hgvs_p": "p.Ala390Ala",
          "transcript": "NM_001370297.1",
          "protein_id": "NP_001357226.1",
          "transcript_support_level": null,
          "aa_start": 390,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": 1170,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": 1451,
          "cdna_end": null,
          "cdna_length": 7547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.978A>G",
          "hgvs_p": "p.Ala326Ala",
          "transcript": "NM_001304483.2",
          "protein_id": "NP_001291412.1",
          "transcript_support_level": null,
          "aa_start": 326,
          "aa_end": null,
          "aa_length": 471,
          "cds_start": 978,
          "cds_end": null,
          "cds_length": 1416,
          "cdna_start": 2243,
          "cdna_end": null,
          "cdna_length": 2702,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.690A>G",
          "hgvs_p": "p.Ala230Ala",
          "transcript": "NM_001304484.2",
          "protein_id": "NP_001291413.1",
          "transcript_support_level": null,
          "aa_start": 230,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": 690,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": 2262,
          "cdna_end": null,
          "cdna_length": 8358,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.534A>G",
          "hgvs_p": "p.Ala178Ala",
          "transcript": "ENST00000683182.1",
          "protein_id": "ENSP00000507831.1",
          "transcript_support_level": null,
          "aa_start": 178,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": 534,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": 1281,
          "cdna_end": null,
          "cdna_length": 2070,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.2190A>G",
          "hgvs_p": "p.Ala730Ala",
          "transcript": "XM_047428291.1",
          "protein_id": "XP_047284247.1",
          "transcript_support_level": null,
          "aa_start": 730,
          "aa_end": null,
          "aa_length": 922,
          "cds_start": 2190,
          "cds_end": null,
          "cds_length": 2769,
          "cdna_start": 2219,
          "cdna_end": null,
          "cdna_length": 8315,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.2148A>G",
          "hgvs_p": "p.Ala716Ala",
          "transcript": "XM_047428292.1",
          "protein_id": "XP_047284248.1",
          "transcript_support_level": null,
          "aa_start": 716,
          "aa_end": null,
          "aa_length": 908,
          "cds_start": 2148,
          "cds_end": null,
          "cds_length": 2727,
          "cdna_start": 2343,
          "cdna_end": null,
          "cdna_length": 8439,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1722A>G",
          "hgvs_p": "p.Ala574Ala",
          "transcript": "XM_047428293.1",
          "protein_id": "XP_047284249.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1722,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 2010,
          "cdna_end": null,
          "cdna_length": 8106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1443A>G",
          "hgvs_p": "p.Ala481Ala",
          "transcript": "XM_047428294.1",
          "protein_id": "XP_047284250.1",
          "transcript_support_level": null,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1443,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 2161,
          "cdna_end": null,
          "cdna_length": 8257,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1443A>G",
          "hgvs_p": "p.Ala481Ala",
          "transcript": "XM_047428295.1",
          "protein_id": "XP_047284251.1",
          "transcript_support_level": null,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1443,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 2039,
          "cdna_end": null,
          "cdna_length": 8135,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1443A>G",
          "hgvs_p": "p.Ala481Ala",
          "transcript": "XM_047428296.1",
          "protein_id": "XP_047284252.1",
          "transcript_support_level": null,
          "aa_start": 481,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1443,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 1838,
          "cdna_end": null,
          "cdna_length": 7934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1170A>G",
          "hgvs_p": "p.Ala390Ala",
          "transcript": "XM_047428297.1",
          "protein_id": "XP_047284253.1",
          "transcript_support_level": null,
          "aa_start": 390,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": 1170,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": 1329,
          "cdna_end": null,
          "cdna_length": 7425,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.1125A>G",
          "hgvs_p": "p.Ala375Ala",
          "transcript": "XM_011520558.3",
          "protein_id": "XP_011518860.1",
          "transcript_support_level": null,
          "aa_start": 375,
          "aa_end": null,
          "aa_length": 567,
          "cds_start": 1125,
          "cds_end": null,
          "cds_length": 1704,
          "cdna_start": 1203,
          "cdna_end": null,
          "cdna_length": 7299,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.978A>G",
          "hgvs_p": "p.Ala326Ala",
          "transcript": "XM_005253310.5",
          "protein_id": "XP_005253367.1",
          "transcript_support_level": null,
          "aa_start": 326,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 978,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": 1054,
          "cdna_end": null,
          "cdna_length": 7150,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "c.957A>G",
          "hgvs_p": "p.Ala319Ala",
          "transcript": "XM_011520559.4",
          "protein_id": "XP_011518861.1",
          "transcript_support_level": null,
          "aa_start": 319,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": 957,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": 1043,
          "cdna_end": null,
          "cdna_length": 7139,
          "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": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.*1133A>G",
          "hgvs_p": null,
          "transcript": "ENST00000493087.5",
          "protein_id": "ENSP00000437109.1",
          "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": 2987,
          "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": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.*1207A>G",
          "hgvs_p": null,
          "transcript": "ENST00000494977.1",
          "protein_id": "ENSP00000434062.1",
          "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": 2349,
          "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": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.*1091A>G",
          "hgvs_p": null,
          "transcript": "ENST00000551984.5",
          "protein_id": "ENSP00000449614.1",
          "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": 2435,
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.1229A>G",
          "hgvs_p": null,
          "transcript": "ENST00000683515.1",
          "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": 1671,
          "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": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.520A>G",
          "hgvs_p": null,
          "transcript": "ENST00000684033.1",
          "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": 1309,
          "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": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.*1133A>G",
          "hgvs_p": null,
          "transcript": "ENST00000493087.5",
          "protein_id": "ENSP00000437109.1",
          "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": 2987,
          "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": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.*1207A>G",
          "hgvs_p": null,
          "transcript": "ENST00000494977.1",
          "protein_id": "ENSP00000434062.1",
          "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": 2349,
          "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": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FGD4",
          "gene_hgnc_id": 19125,
          "hgvs_c": "n.*1091A>G",
          "hgvs_p": null,
          "transcript": "ENST00000551984.5",
          "protein_id": "ENSP00000449614.1",
          "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": 2435,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "FGD4",
      "gene_hgnc_id": 19125,
      "dbsnp": "rs771910342",
      "frequency_reference_population": 0.000017967426,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 29,
      "gnomad_exomes_af": 0.000019154,
      "gnomad_genomes_af": 0.00000657056,
      "gnomad_exomes_ac": 28,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7300000190734863,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.73,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.995,
      "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": -11,
      "acmg_classification": "Benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -11,
          "benign_score": 13,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000534526.7",
          "gene_symbol": "FGD4",
          "hgnc_id": 19125,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2133A>G",
          "hgvs_p": "p.Ala711Ala"
        }
      ],
      "clinvar_disease": "Charcot-Marie-Tooth disease type 4,Inborn genetic diseases",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Charcot-Marie-Tooth disease type 4|Inborn genetic diseases",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}