← 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: 6-31150734-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31150734&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 31150734,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000396268.8",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1092A>G",
          "hgvs_p": "p.Glu364Glu",
          "transcript": "NM_001105564.2",
          "protein_id": "NP_001099034.1",
          "transcript_support_level": null,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 1092,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": 1294,
          "cdna_end": null,
          "cdna_length": 2971,
          "mane_select": "ENST00000396268.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1092A>G",
          "hgvs_p": "p.Glu364Glu",
          "transcript": "ENST00000396268.8",
          "protein_id": "ENSP00000379566.3",
          "transcript_support_level": 1,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 1092,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": 1294,
          "cdna_end": null,
          "cdna_length": 2971,
          "mane_select": "NM_001105564.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.984A>G",
          "hgvs_p": "p.Glu328Glu",
          "transcript": "ENST00000451521.6",
          "protein_id": "ENSP00000401039.2",
          "transcript_support_level": 1,
          "aa_start": 328,
          "aa_end": null,
          "aa_length": 835,
          "cds_start": 984,
          "cds_end": null,
          "cds_length": 2508,
          "cdna_start": 991,
          "cdna_end": null,
          "cdna_length": 2587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "ENST00000376266.9",
          "protein_id": "ENSP00000365442.5",
          "transcript_support_level": 1,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 948,
          "cdna_end": null,
          "cdna_length": 2625,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.966A>G",
          "hgvs_p": null,
          "transcript": "ENST00000509552.5",
          "protein_id": null,
          "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": 2304,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1119A>G",
          "hgvs_p": "p.Glu373Glu",
          "transcript": "NM_001394641.1",
          "protein_id": "NP_001381570.1",
          "transcript_support_level": null,
          "aa_start": 373,
          "aa_end": null,
          "aa_length": 880,
          "cds_start": 1119,
          "cds_end": null,
          "cds_length": 2643,
          "cdna_start": 1321,
          "cdna_end": null,
          "cdna_length": 2998,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.984A>G",
          "hgvs_p": "p.Glu328Glu",
          "transcript": "NM_001105563.3",
          "protein_id": "NP_001099033.1",
          "transcript_support_level": null,
          "aa_start": 328,
          "aa_end": null,
          "aa_length": 835,
          "cds_start": 984,
          "cds_end": null,
          "cds_length": 2508,
          "cdna_start": 1186,
          "cdna_end": null,
          "cdna_length": 2863,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "NM_001394642.1",
          "protein_id": "NP_001381571.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1023,
          "cdna_end": null,
          "cdna_length": 2700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "NM_001394643.1",
          "protein_id": "NP_001381572.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1050,
          "cdna_end": null,
          "cdna_length": 2727,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "NM_001394644.1",
          "protein_id": "NP_001381573.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 973,
          "cdna_end": null,
          "cdna_length": 2650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "NM_019052.4",
          "protein_id": "NP_061925.2",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 907,
          "cdna_end": null,
          "cdna_length": 2584,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "NM_001394646.1",
          "protein_id": "NP_001381575.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": 1023,
          "cdna_end": null,
          "cdna_length": 2691,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.747A>G",
          "hgvs_p": "p.Glu249Glu",
          "transcript": "NM_001394647.1",
          "protein_id": "NP_001381576.1",
          "transcript_support_level": null,
          "aa_start": 249,
          "aa_end": null,
          "aa_length": 756,
          "cds_start": 747,
          "cds_end": null,
          "cds_length": 2271,
          "cdna_start": 840,
          "cdna_end": null,
          "cdna_length": 2517,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.717A>G",
          "hgvs_p": "p.Glu239Glu",
          "transcript": "NM_001394648.1",
          "protein_id": "NP_001381577.1",
          "transcript_support_level": null,
          "aa_start": 239,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 717,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 799,
          "cdna_end": null,
          "cdna_length": 2476,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "ENST00000396263.6",
          "protein_id": "ENSP00000379561.2",
          "transcript_support_level": 5,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": 977,
          "cdna_end": null,
          "cdna_length": 2490,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.468A>G",
          "hgvs_p": "p.Glu156Glu",
          "transcript": "NM_001394649.1",
          "protein_id": "NP_001381578.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 468,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": 626,
          "cdna_end": null,
          "cdna_length": 2303,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1011A>G",
          "hgvs_p": "p.Glu337Glu",
          "transcript": "XM_011514702.3",
          "protein_id": "XP_011513004.1",
          "transcript_support_level": null,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 844,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 2535,
          "cdna_start": 1213,
          "cdna_end": null,
          "cdna_length": 2890,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "XM_017010963.2",
          "protein_id": "XP_016866452.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1218,
          "cdna_end": null,
          "cdna_length": 2895,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "XM_017010964.2",
          "protein_id": "XP_016866453.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1075,
          "cdna_end": null,
          "cdna_length": 2752,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "XM_017010966.2",
          "protein_id": "XP_016866455.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1063,
          "cdna_end": null,
          "cdna_length": 2740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "XM_017010968.2",
          "protein_id": "XP_016866457.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 903,
          "cdna_end": null,
          "cdna_length": 2580,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "XM_047418908.1",
          "protein_id": "XP_047274864.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1206,
          "cdna_end": null,
          "cdna_length": 2883,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "XM_047418909.1",
          "protein_id": "XP_047274865.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1257,
          "cdna_end": null,
          "cdna_length": 2934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "XM_047418910.1",
          "protein_id": "XP_047274866.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1141,
          "cdna_end": null,
          "cdna_length": 2818,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.717A>G",
          "hgvs_p": "p.Glu239Glu",
          "transcript": "XM_011514705.2",
          "protein_id": "XP_011513007.1",
          "transcript_support_level": null,
          "aa_start": 239,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 717,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 955,
          "cdna_end": null,
          "cdna_length": 2632,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.717A>G",
          "hgvs_p": "p.Glu239Glu",
          "transcript": "XM_017010969.2",
          "protein_id": "XP_016866458.1",
          "transcript_support_level": null,
          "aa_start": 239,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 717,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 795,
          "cdna_end": null,
          "cdna_length": 2472,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.717A>G",
          "hgvs_p": "p.Glu239Glu",
          "transcript": "XM_047418911.1",
          "protein_id": "XP_047274867.1",
          "transcript_support_level": null,
          "aa_start": 239,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 717,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 915,
          "cdna_end": null,
          "cdna_length": 2592,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1119A>G",
          "hgvs_p": "p.Glu373Glu",
          "transcript": "XM_047418912.1",
          "protein_id": "XP_047274868.1",
          "transcript_support_level": null,
          "aa_start": 373,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 1119,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": 1321,
          "cdna_end": null,
          "cdna_length": 2203,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.825A>G",
          "hgvs_p": "p.Glu275Glu",
          "transcript": "XM_047418913.1",
          "protein_id": "XP_047274869.1",
          "transcript_support_level": null,
          "aa_start": 275,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 825,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": 907,
          "cdna_end": null,
          "cdna_length": 1858,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.*278A>G",
          "hgvs_p": null,
          "transcript": "ENST00000512418.5",
          "protein_id": "ENSP00000426883.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.825A>G",
          "hgvs_p": null,
          "transcript": "ENST00000652427.1",
          "protein_id": "ENSP00000498342.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2681,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.825A>G",
          "hgvs_p": null,
          "transcript": "ENST00000652535.1",
          "protein_id": "ENSP00000498479.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2684,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.-4A>G",
          "hgvs_p": null,
          "transcript": "XM_047418914.1",
          "protein_id": "XP_047274870.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1521,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2182,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.*278A>G",
          "hgvs_p": null,
          "transcript": "ENST00000512418.5",
          "protein_id": "ENSP00000426883.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.93-1066A>G",
          "hgvs_p": null,
          "transcript": "ENST00000480060.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 601,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.*241A>G",
          "hgvs_p": null,
          "transcript": "ENST00000448141.6",
          "protein_id": "ENSP00000414323.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 190,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 574,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 664,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.*133A>G",
          "hgvs_p": null,
          "transcript": "ENST00000464012.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 512,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.*151A>G",
          "hgvs_p": null,
          "transcript": "ENST00000505392.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.*278A>G",
          "hgvs_p": null,
          "transcript": "ENST00000507459.5",
          "protein_id": "ENSP00000421523.1",
          "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": 582,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.*278A>G",
          "hgvs_p": null,
          "transcript": "ENST00000508852.5",
          "protein_id": "ENSP00000422503.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 589,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "CCHCR1",
      "gene_hgnc_id": 13930,
      "dbsnp": "rs130067",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7599999904632568,
      "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": -0.76,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.382,
      "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": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000396268.8",
          "gene_symbol": "CCHCR1",
          "hgnc_id": 13930,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1092A>G",
          "hgvs_p": "p.Glu364Glu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}