← 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: 15-63656210-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63656210&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 63656210,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000443617.7",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9748C>G",
          "hgvs_p": "p.Arg3250Gly",
          "transcript": "NM_003922.4",
          "protein_id": "NP_003913.3",
          "transcript_support_level": null,
          "aa_start": 3250,
          "aa_end": null,
          "aa_length": 4861,
          "cds_start": 9748,
          "cds_end": null,
          "cds_length": 14586,
          "cdna_start": 9896,
          "cdna_end": null,
          "cdna_length": 15197,
          "mane_select": "ENST00000443617.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9748C>G",
          "hgvs_p": "p.Arg3250Gly",
          "transcript": "ENST00000443617.7",
          "protein_id": "ENSP00000390158.2",
          "transcript_support_level": 1,
          "aa_start": 3250,
          "aa_end": null,
          "aa_length": 4861,
          "cds_start": 9748,
          "cds_end": null,
          "cds_length": 14586,
          "cdna_start": 9896,
          "cdna_end": null,
          "cdna_length": 15197,
          "mane_select": "NM_003922.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9841C>G",
          "hgvs_p": "p.Arg3281Gly",
          "transcript": "XM_047433210.1",
          "protein_id": "XP_047289166.1",
          "transcript_support_level": null,
          "aa_start": 3281,
          "aa_end": null,
          "aa_length": 4909,
          "cds_start": 9841,
          "cds_end": null,
          "cds_length": 14730,
          "cdna_start": 9994,
          "cdna_end": null,
          "cdna_length": 15346,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9838C>G",
          "hgvs_p": "p.Arg3280Gly",
          "transcript": "XM_047433211.1",
          "protein_id": "XP_047289167.1",
          "transcript_support_level": null,
          "aa_start": 3280,
          "aa_end": null,
          "aa_length": 4908,
          "cds_start": 9838,
          "cds_end": null,
          "cds_length": 14727,
          "cdna_start": 9991,
          "cdna_end": null,
          "cdna_length": 15343,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9820C>G",
          "hgvs_p": "p.Arg3274Gly",
          "transcript": "XM_047433213.1",
          "protein_id": "XP_047289169.1",
          "transcript_support_level": null,
          "aa_start": 3274,
          "aa_end": null,
          "aa_length": 4902,
          "cds_start": 9820,
          "cds_end": null,
          "cds_length": 14709,
          "cdna_start": 9973,
          "cdna_end": null,
          "cdna_length": 15325,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9817C>G",
          "hgvs_p": "p.Arg3273Gly",
          "transcript": "XM_047433214.1",
          "protein_id": "XP_047289170.1",
          "transcript_support_level": null,
          "aa_start": 3273,
          "aa_end": null,
          "aa_length": 4901,
          "cds_start": 9817,
          "cds_end": null,
          "cds_length": 14706,
          "cdna_start": 9970,
          "cdna_end": null,
          "cdna_length": 15322,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9817C>G",
          "hgvs_p": "p.Arg3273Gly",
          "transcript": "XM_047433215.1",
          "protein_id": "XP_047289171.1",
          "transcript_support_level": null,
          "aa_start": 3273,
          "aa_end": null,
          "aa_length": 4901,
          "cds_start": 9817,
          "cds_end": null,
          "cds_length": 14706,
          "cdna_start": 9970,
          "cdna_end": null,
          "cdna_length": 15322,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9796C>G",
          "hgvs_p": "p.Arg3266Gly",
          "transcript": "XM_047433216.1",
          "protein_id": "XP_047289172.1",
          "transcript_support_level": null,
          "aa_start": 3266,
          "aa_end": null,
          "aa_length": 4894,
          "cds_start": 9796,
          "cds_end": null,
          "cds_length": 14685,
          "cdna_start": 9949,
          "cdna_end": null,
          "cdna_length": 15301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9790C>G",
          "hgvs_p": "p.Arg3264Gly",
          "transcript": "XM_017022702.2",
          "protein_id": "XP_016878191.1",
          "transcript_support_level": null,
          "aa_start": 3264,
          "aa_end": null,
          "aa_length": 4892,
          "cds_start": 9790,
          "cds_end": null,
          "cds_length": 14679,
          "cdna_start": 9938,
          "cdna_end": null,
          "cdna_length": 15290,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9841C>G",
          "hgvs_p": "p.Arg3281Gly",
          "transcript": "XM_047433217.1",
          "protein_id": "XP_047289173.1",
          "transcript_support_level": null,
          "aa_start": 3281,
          "aa_end": null,
          "aa_length": 4892,
          "cds_start": 9841,
          "cds_end": null,
          "cds_length": 14679,
          "cdna_start": 9994,
          "cdna_end": null,
          "cdna_length": 15295,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9790C>G",
          "hgvs_p": "p.Arg3264Gly",
          "transcript": "XM_047433218.1",
          "protein_id": "XP_047289174.1",
          "transcript_support_level": null,
          "aa_start": 3264,
          "aa_end": null,
          "aa_length": 4892,
          "cds_start": 9790,
          "cds_end": null,
          "cds_length": 14679,
          "cdna_start": 9943,
          "cdna_end": null,
          "cdna_length": 15295,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9790C>G",
          "hgvs_p": "p.Arg3264Gly",
          "transcript": "XM_047433219.1",
          "protein_id": "XP_047289175.1",
          "transcript_support_level": null,
          "aa_start": 3264,
          "aa_end": null,
          "aa_length": 4892,
          "cds_start": 9790,
          "cds_end": null,
          "cds_length": 14679,
          "cdna_start": 10263,
          "cdna_end": null,
          "cdna_length": 15615,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9838C>G",
          "hgvs_p": "p.Arg3280Gly",
          "transcript": "XM_047433220.1",
          "protein_id": "XP_047289176.1",
          "transcript_support_level": null,
          "aa_start": 3280,
          "aa_end": null,
          "aa_length": 4891,
          "cds_start": 9838,
          "cds_end": null,
          "cds_length": 14676,
          "cdna_start": 9991,
          "cdna_end": null,
          "cdna_length": 15292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9838C>G",
          "hgvs_p": "p.Arg3280Gly",
          "transcript": "XM_047433221.1",
          "protein_id": "XP_047289177.1",
          "transcript_support_level": null,
          "aa_start": 3280,
          "aa_end": null,
          "aa_length": 4891,
          "cds_start": 9838,
          "cds_end": null,
          "cds_length": 14676,
          "cdna_start": 9991,
          "cdna_end": null,
          "cdna_length": 15292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9787C>G",
          "hgvs_p": "p.Arg3263Gly",
          "transcript": "XM_047433222.1",
          "protein_id": "XP_047289178.1",
          "transcript_support_level": null,
          "aa_start": 3263,
          "aa_end": null,
          "aa_length": 4891,
          "cds_start": 9787,
          "cds_end": null,
          "cds_length": 14676,
          "cdna_start": 9940,
          "cdna_end": null,
          "cdna_length": 15292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9820C>G",
          "hgvs_p": "p.Arg3274Gly",
          "transcript": "XM_047433223.1",
          "protein_id": "XP_047289179.1",
          "transcript_support_level": null,
          "aa_start": 3274,
          "aa_end": null,
          "aa_length": 4885,
          "cds_start": 9820,
          "cds_end": null,
          "cds_length": 14658,
          "cdna_start": 9973,
          "cdna_end": null,
          "cdna_length": 15274,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9817C>G",
          "hgvs_p": "p.Arg3273Gly",
          "transcript": "XM_047433224.1",
          "protein_id": "XP_047289180.1",
          "transcript_support_level": null,
          "aa_start": 3273,
          "aa_end": null,
          "aa_length": 4884,
          "cds_start": 9817,
          "cds_end": null,
          "cds_length": 14655,
          "cdna_start": 9970,
          "cdna_end": null,
          "cdna_length": 15271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9817C>G",
          "hgvs_p": "p.Arg3273Gly",
          "transcript": "XM_047433225.1",
          "protein_id": "XP_047289181.1",
          "transcript_support_level": null,
          "aa_start": 3273,
          "aa_end": null,
          "aa_length": 4884,
          "cds_start": 9817,
          "cds_end": null,
          "cds_length": 14655,
          "cdna_start": 9970,
          "cdna_end": null,
          "cdna_length": 15271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9766C>G",
          "hgvs_p": "p.Arg3256Gly",
          "transcript": "XM_047433226.1",
          "protein_id": "XP_047289182.1",
          "transcript_support_level": null,
          "aa_start": 3256,
          "aa_end": null,
          "aa_length": 4884,
          "cds_start": 9766,
          "cds_end": null,
          "cds_length": 14655,
          "cdna_start": 9919,
          "cdna_end": null,
          "cdna_length": 15271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9766C>G",
          "hgvs_p": "p.Arg3256Gly",
          "transcript": "XM_047433227.1",
          "protein_id": "XP_047289183.1",
          "transcript_support_level": null,
          "aa_start": 3256,
          "aa_end": null,
          "aa_length": 4884,
          "cds_start": 9766,
          "cds_end": null,
          "cds_length": 14655,
          "cdna_start": 9914,
          "cdna_end": null,
          "cdna_length": 15266,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9763C>G",
          "hgvs_p": "p.Arg3255Gly",
          "transcript": "XM_017022705.2",
          "protein_id": "XP_016878194.1",
          "transcript_support_level": null,
          "aa_start": 3255,
          "aa_end": null,
          "aa_length": 4883,
          "cds_start": 9763,
          "cds_end": null,
          "cds_length": 14652,
          "cdna_start": 9911,
          "cdna_end": null,
          "cdna_length": 15263,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9814C>G",
          "hgvs_p": "p.Arg3272Gly",
          "transcript": "XM_047433228.1",
          "protein_id": "XP_047289184.1",
          "transcript_support_level": null,
          "aa_start": 3272,
          "aa_end": null,
          "aa_length": 4883,
          "cds_start": 9814,
          "cds_end": null,
          "cds_length": 14652,
          "cdna_start": 9967,
          "cdna_end": null,
          "cdna_length": 15268,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9763C>G",
          "hgvs_p": "p.Arg3255Gly",
          "transcript": "XM_047433229.1",
          "protein_id": "XP_047289185.1",
          "transcript_support_level": null,
          "aa_start": 3255,
          "aa_end": null,
          "aa_length": 4883,
          "cds_start": 9763,
          "cds_end": null,
          "cds_length": 14652,
          "cdna_start": 9916,
          "cdna_end": null,
          "cdna_length": 15268,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9763C>G",
          "hgvs_p": "p.Arg3255Gly",
          "transcript": "XM_047433230.1",
          "protein_id": "XP_047289186.1",
          "transcript_support_level": null,
          "aa_start": 3255,
          "aa_end": null,
          "aa_length": 4883,
          "cds_start": 9763,
          "cds_end": null,
          "cds_length": 14652,
          "cdna_start": 10236,
          "cdna_end": null,
          "cdna_length": 15588,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9763C>G",
          "hgvs_p": "p.Arg3255Gly",
          "transcript": "XM_047433232.1",
          "protein_id": "XP_047289188.1",
          "transcript_support_level": null,
          "aa_start": 3255,
          "aa_end": null,
          "aa_length": 4883,
          "cds_start": 9763,
          "cds_end": null,
          "cds_length": 14652,
          "cdna_start": 13233,
          "cdna_end": null,
          "cdna_length": 18585,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9763C>G",
          "hgvs_p": "p.Arg3255Gly",
          "transcript": "XM_047433233.1",
          "protein_id": "XP_047289189.1",
          "transcript_support_level": null,
          "aa_start": 3255,
          "aa_end": null,
          "aa_length": 4883,
          "cds_start": 9763,
          "cds_end": null,
          "cds_length": 14652,
          "cdna_start": 9911,
          "cdna_end": null,
          "cdna_length": 15263,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9760C>G",
          "hgvs_p": "p.Arg3254Gly",
          "transcript": "XM_047433234.1",
          "protein_id": "XP_047289190.1",
          "transcript_support_level": null,
          "aa_start": 3254,
          "aa_end": null,
          "aa_length": 4882,
          "cds_start": 9760,
          "cds_end": null,
          "cds_length": 14649,
          "cdna_start": 9908,
          "cdna_end": null,
          "cdna_length": 15260,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9760C>G",
          "hgvs_p": "p.Arg3254Gly",
          "transcript": "XM_047433235.1",
          "protein_id": "XP_047289191.1",
          "transcript_support_level": null,
          "aa_start": 3254,
          "aa_end": null,
          "aa_length": 4882,
          "cds_start": 9760,
          "cds_end": null,
          "cds_length": 14649,
          "cdna_start": 9913,
          "cdna_end": null,
          "cdna_length": 15265,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9760C>G",
          "hgvs_p": "p.Arg3254Gly",
          "transcript": "XM_047433236.1",
          "protein_id": "XP_047289192.1",
          "transcript_support_level": null,
          "aa_start": 3254,
          "aa_end": null,
          "aa_length": 4882,
          "cds_start": 9760,
          "cds_end": null,
          "cds_length": 14649,
          "cdna_start": 10233,
          "cdna_end": null,
          "cdna_length": 15585,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9760C>G",
          "hgvs_p": "p.Arg3254Gly",
          "transcript": "XM_047433237.1",
          "protein_id": "XP_047289193.1",
          "transcript_support_level": null,
          "aa_start": 3254,
          "aa_end": null,
          "aa_length": 4882,
          "cds_start": 9760,
          "cds_end": null,
          "cds_length": 14649,
          "cdna_start": 13231,
          "cdna_end": null,
          "cdna_length": 18583,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9748C>G",
          "hgvs_p": "p.Arg3250Gly",
          "transcript": "XM_047433238.1",
          "protein_id": "XP_047289194.1",
          "transcript_support_level": null,
          "aa_start": 3250,
          "aa_end": null,
          "aa_length": 4878,
          "cds_start": 9748,
          "cds_end": null,
          "cds_length": 14637,
          "cdna_start": 9896,
          "cdna_end": null,
          "cdna_length": 15248,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9796C>G",
          "hgvs_p": "p.Arg3266Gly",
          "transcript": "XM_047433239.1",
          "protein_id": "XP_047289195.1",
          "transcript_support_level": null,
          "aa_start": 3266,
          "aa_end": null,
          "aa_length": 4877,
          "cds_start": 9796,
          "cds_end": null,
          "cds_length": 14634,
          "cdna_start": 9949,
          "cdna_end": null,
          "cdna_length": 15250,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 50,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9793C>G",
          "hgvs_p": "p.Arg3265Gly",
          "transcript": "XM_047433240.1",
          "protein_id": "XP_047289196.1",
          "transcript_support_level": null,
          "aa_start": 3265,
          "aa_end": null,
          "aa_length": 4876,
          "cds_start": 9793,
          "cds_end": null,
          "cds_length": 14631,
          "cdna_start": 9946,
          "cdna_end": null,
          "cdna_length": 15247,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9739C>G",
          "hgvs_p": "p.Arg3247Gly",
          "transcript": "XM_047433241.1",
          "protein_id": "XP_047289197.1",
          "transcript_support_level": null,
          "aa_start": 3247,
          "aa_end": null,
          "aa_length": 4875,
          "cds_start": 9739,
          "cds_end": null,
          "cds_length": 14628,
          "cdna_start": 9887,
          "cdna_end": null,
          "cdna_length": 15239,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9739C>G",
          "hgvs_p": "p.Arg3247Gly",
          "transcript": "XM_047433243.1",
          "protein_id": "XP_047289199.1",
          "transcript_support_level": null,
          "aa_start": 3247,
          "aa_end": null,
          "aa_length": 4875,
          "cds_start": 9739,
          "cds_end": null,
          "cds_length": 14628,
          "cdna_start": 9892,
          "cdna_end": null,
          "cdna_length": 15244,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9739C>G",
          "hgvs_p": "p.Arg3247Gly",
          "transcript": "XM_047433244.1",
          "protein_id": "XP_047289200.1",
          "transcript_support_level": null,
          "aa_start": 3247,
          "aa_end": null,
          "aa_length": 4875,
          "cds_start": 9739,
          "cds_end": null,
          "cds_length": 14628,
          "cdna_start": 10212,
          "cdna_end": null,
          "cdna_length": 15564,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9739C>G",
          "hgvs_p": "p.Arg3247Gly",
          "transcript": "XM_047433245.1",
          "protein_id": "XP_047289201.1",
          "transcript_support_level": null,
          "aa_start": 3247,
          "aa_end": null,
          "aa_length": 4875,
          "cds_start": 9739,
          "cds_end": null,
          "cds_length": 14628,
          "cdna_start": 13209,
          "cdna_end": null,
          "cdna_length": 18561,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9736C>G",
          "hgvs_p": "p.Arg3246Gly",
          "transcript": "XM_047433246.1",
          "protein_id": "XP_047289202.1",
          "transcript_support_level": null,
          "aa_start": 3246,
          "aa_end": null,
          "aa_length": 4874,
          "cds_start": 9736,
          "cds_end": null,
          "cds_length": 14625,
          "cdna_start": 9889,
          "cdna_end": null,
          "cdna_length": 15241,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9736C>G",
          "hgvs_p": "p.Arg3246Gly",
          "transcript": "XM_047433247.1",
          "protein_id": "XP_047289203.1",
          "transcript_support_level": null,
          "aa_start": 3246,
          "aa_end": null,
          "aa_length": 4874,
          "cds_start": 9736,
          "cds_end": null,
          "cds_length": 14625,
          "cdna_start": 9884,
          "cdna_end": null,
          "cdna_length": 15236,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9736C>G",
          "hgvs_p": "p.Arg3246Gly",
          "transcript": "XM_047433248.1",
          "protein_id": "XP_047289204.1",
          "transcript_support_level": null,
          "aa_start": 3246,
          "aa_end": null,
          "aa_length": 4874,
          "cds_start": 9736,
          "cds_end": null,
          "cds_length": 14625,
          "cdna_start": 10209,
          "cdna_end": null,
          "cdna_length": 15561,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9736C>G",
          "hgvs_p": "p.Arg3246Gly",
          "transcript": "XM_047433249.1",
          "protein_id": "XP_047289205.1",
          "transcript_support_level": null,
          "aa_start": 3246,
          "aa_end": null,
          "aa_length": 4874,
          "cds_start": 9736,
          "cds_end": null,
          "cds_length": 14625,
          "cdna_start": 13206,
          "cdna_end": null,
          "cdna_length": 18558,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9721C>G",
          "hgvs_p": "p.Arg3241Gly",
          "transcript": "XM_047433250.1",
          "protein_id": "XP_047289206.1",
          "transcript_support_level": null,
          "aa_start": 3241,
          "aa_end": null,
          "aa_length": 4869,
          "cds_start": 9721,
          "cds_end": null,
          "cds_length": 14610,
          "cdna_start": 9874,
          "cdna_end": null,
          "cdna_length": 15226,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9754C>G",
          "hgvs_p": "p.Arg3252Gly",
          "transcript": "XM_047433251.1",
          "protein_id": "XP_047289207.1",
          "transcript_support_level": null,
          "aa_start": 3252,
          "aa_end": null,
          "aa_length": 4863,
          "cds_start": 9754,
          "cds_end": null,
          "cds_length": 14592,
          "cdna_start": 9902,
          "cdna_end": null,
          "cdna_length": 15203,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9703C>G",
          "hgvs_p": "p.Arg3235Gly",
          "transcript": "XM_047433252.1",
          "protein_id": "XP_047289208.1",
          "transcript_support_level": null,
          "aa_start": 3235,
          "aa_end": null,
          "aa_length": 4863,
          "cds_start": 9703,
          "cds_end": null,
          "cds_length": 14592,
          "cdna_start": 9851,
          "cdna_end": null,
          "cdna_length": 15203,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9751C>G",
          "hgvs_p": "p.Arg3251Gly",
          "transcript": "XM_047433254.1",
          "protein_id": "XP_047289210.1",
          "transcript_support_level": null,
          "aa_start": 3251,
          "aa_end": null,
          "aa_length": 4862,
          "cds_start": 9751,
          "cds_end": null,
          "cds_length": 14589,
          "cdna_start": 9904,
          "cdna_end": null,
          "cdna_length": 15205,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9727C>G",
          "hgvs_p": "p.Arg3243Gly",
          "transcript": "XM_047433255.1",
          "protein_id": "XP_047289211.1",
          "transcript_support_level": null,
          "aa_start": 3243,
          "aa_end": null,
          "aa_length": 4854,
          "cds_start": 9727,
          "cds_end": null,
          "cds_length": 14565,
          "cdna_start": 9875,
          "cdna_end": null,
          "cdna_length": 15176,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9724C>G",
          "hgvs_p": "p.Arg3242Gly",
          "transcript": "XM_047433256.1",
          "protein_id": "XP_047289212.1",
          "transcript_support_level": null,
          "aa_start": 3242,
          "aa_end": null,
          "aa_length": 4853,
          "cds_start": 9724,
          "cds_end": null,
          "cds_length": 14562,
          "cdna_start": 9877,
          "cdna_end": null,
          "cdna_length": 15178,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9724C>G",
          "hgvs_p": "p.Arg3242Gly",
          "transcript": "XM_047433257.1",
          "protein_id": "XP_047289213.1",
          "transcript_support_level": null,
          "aa_start": 3242,
          "aa_end": null,
          "aa_length": 4853,
          "cds_start": 9724,
          "cds_end": null,
          "cds_length": 14562,
          "cdna_start": 9872,
          "cdna_end": null,
          "cdna_length": 15173,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9721C>G",
          "hgvs_p": "p.Arg3241Gly",
          "transcript": "XM_047433258.1",
          "protein_id": "XP_047289214.1",
          "transcript_support_level": null,
          "aa_start": 3241,
          "aa_end": null,
          "aa_length": 4852,
          "cds_start": 9721,
          "cds_end": null,
          "cds_length": 14559,
          "cdna_start": 9869,
          "cdna_end": null,
          "cdna_length": 15170,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9703C>G",
          "hgvs_p": "p.Arg3235Gly",
          "transcript": "XM_047433259.1",
          "protein_id": "XP_047289215.1",
          "transcript_support_level": null,
          "aa_start": 3235,
          "aa_end": null,
          "aa_length": 4846,
          "cds_start": 9703,
          "cds_end": null,
          "cds_length": 14541,
          "cdna_start": 9856,
          "cdna_end": null,
          "cdna_length": 15157,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.9700C>G",
          "hgvs_p": "p.Arg3234Gly",
          "transcript": "XM_047433260.1",
          "protein_id": "XP_047289216.1",
          "transcript_support_level": null,
          "aa_start": 3234,
          "aa_end": null,
          "aa_length": 4845,
          "cds_start": 9700,
          "cds_end": null,
          "cds_length": 14538,
          "cdna_start": 9848,
          "cdna_end": null,
          "cdna_length": 15149,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "HERC1",
      "gene_hgnc_id": 4867,
      "dbsnp": "rs753780877",
      "frequency_reference_population": 0.0000065706477,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.00000657065,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.5344529747962952,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.145,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1193,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": -0.13,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 6.142,
      "phylop100way_prediction": "Uncertain_significance",
      "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": "ENST00000443617.7",
          "gene_symbol": "HERC1",
          "hgnc_id": 4867,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.9748C>G",
          "hgvs_p": "p.Arg3250Gly"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}