← Back to variant description

GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 17-80184178-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80184178&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 80184178,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000648509.2",
      "consequences": [
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "NM_001366385.1",
          "protein_id": "NP_001353314.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 1331,
          "cdna_end": null,
          "cdna_length": 4717,
          "mane_select": "ENST00000648509.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "ENST00000648509.2",
          "protein_id": "ENSP00000498071.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 1331,
          "cdna_end": null,
          "cdna_length": 4717,
          "mane_select": "NM_001366385.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "ENST00000344227.6",
          "protein_id": "ENSP00000344549.2",
          "transcript_support_level": 1,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 783,
          "cdna_end": null,
          "cdna_length": 4147,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "ENST00000570421.5",
          "protein_id": "ENSP00000461806.1",
          "transcript_support_level": 1,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": 792,
          "cdna_end": null,
          "cdna_length": 2607,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "ENST00000651672.1",
          "protein_id": "ENSP00000499145.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1013,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3042,
          "cdna_start": 1063,
          "cdna_end": null,
          "cdna_length": 4475,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "NM_024110.4",
          "protein_id": "NP_077015.2",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 783,
          "cdna_end": null,
          "cdna_length": 4169,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "ENST00000571427.2",
          "protein_id": "ENSP00000516501.1",
          "transcript_support_level": 5,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 1346,
          "cdna_end": null,
          "cdna_length": 4732,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "ENST00000573882.5",
          "protein_id": "ENSP00000458715.1",
          "transcript_support_level": 5,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 1151,
          "cdna_end": null,
          "cdna_length": 4537,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "NM_001257970.1",
          "protein_id": "NP_001244899.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": 783,
          "cdna_end": null,
          "cdna_length": 2598,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_011525213.2",
          "protein_id": "XP_011523515.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 1008,
          "cdna_end": null,
          "cdna_length": 4394,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_011525216.2",
          "protein_id": "XP_011523518.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 810,
          "cdna_end": null,
          "cdna_length": 4196,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_011525218.2",
          "protein_id": "XP_011523520.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 845,
          "cdna_end": null,
          "cdna_length": 4231,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436713.1",
          "protein_id": "XP_047292669.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 1088,
          "cdna_end": null,
          "cdna_length": 4474,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436714.1",
          "protein_id": "XP_047292670.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 1070,
          "cdna_end": null,
          "cdna_length": 4456,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436715.1",
          "protein_id": "XP_047292671.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 1106,
          "cdna_end": null,
          "cdna_length": 4492,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436716.1",
          "protein_id": "XP_047292672.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 990,
          "cdna_end": null,
          "cdna_length": 4376,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436717.1",
          "protein_id": "XP_047292673.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 1286,
          "cdna_end": null,
          "cdna_length": 4672,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436718.1",
          "protein_id": "XP_047292674.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 1003,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 3012,
          "cdna_start": 783,
          "cdna_end": null,
          "cdna_length": 4166,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436719.1",
          "protein_id": "XP_047292675.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 936,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 2811,
          "cdna_start": 890,
          "cdna_end": null,
          "cdna_length": 5328,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436720.1",
          "protein_id": "XP_047292676.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 854,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 2565,
          "cdna_start": 981,
          "cdna_end": null,
          "cdna_length": 3038,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436721.1",
          "protein_id": "XP_047292677.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": 981,
          "cdna_end": null,
          "cdna_length": 2796,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436722.1",
          "protein_id": "XP_047292678.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 678,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 2037,
          "cdna_start": 981,
          "cdna_end": null,
          "cdna_length": 2669,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Y",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr",
          "transcript": "XM_047436723.1",
          "protein_id": "XP_047292679.1",
          "transcript_support_level": null,
          "aa_start": 205,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": 615,
          "cds_end": null,
          "cds_length": 1635,
          "cdna_start": 981,
          "cdna_end": null,
          "cdna_length": 2088,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.3T>C",
          "hgvs_p": null,
          "transcript": "ENST00000571450.1",
          "protein_id": "ENSP00000460405.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.28T>C",
          "hgvs_p": null,
          "transcript": "ENST00000572838.1",
          "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": 553,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.615T>C",
          "hgvs_p": null,
          "transcript": "ENST00000575500.5",
          "protein_id": "ENSP00000460883.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3766,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.186T>C",
          "hgvs_p": null,
          "transcript": "ENST00000648128.1",
          "protein_id": "ENSP00000498004.1",
          "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": 985,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.857T>C",
          "hgvs_p": null,
          "transcript": "ENST00000650806.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3595,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.615T>C",
          "hgvs_p": null,
          "transcript": "ENST00000650867.1",
          "protein_id": "ENSP00000498570.1",
          "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": 4082,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.615T>C",
          "hgvs_p": null,
          "transcript": "ENST00000651068.1",
          "protein_id": "ENSP00000498274.1",
          "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": 3838,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.615T>C",
          "hgvs_p": null,
          "transcript": "ENST00000651388.1",
          "protein_id": "ENSP00000498956.1",
          "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": 2429,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.1051T>C",
          "hgvs_p": null,
          "transcript": "ENST00000652599.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3929,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.615T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703566.1",
          "protein_id": "ENSP00000515382.1",
          "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": 4305,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.615T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703567.1",
          "protein_id": "ENSP00000515383.1",
          "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": 4287,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.615T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703568.1",
          "protein_id": "ENSP00000515384.1",
          "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": 3766,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.816T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703569.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3927,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARD14",
          "gene_hgnc_id": 16446,
          "hgvs_c": "n.810T>C",
          "hgvs_p": null,
          "transcript": "NR_047566.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4138,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "CARD14",
      "gene_hgnc_id": 16446,
      "dbsnp": "rs1042724807",
      "frequency_reference_population": 0.00002689036,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 42,
      "gnomad_exomes_af": 0.000029076,
      "gnomad_genomes_af": 0.0000065877,
      "gnomad_exomes_ac": 41,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.6800000071525574,
      "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": -0.68,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.429,
      "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": -8,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2_Supporting",
      "acmg_by_gene": [
        {
          "score": -8,
          "benign_score": 8,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Moderate",
            "BP7",
            "BS2_Supporting"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000648509.2",
          "gene_symbol": "CARD14",
          "hgnc_id": 16446,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.615T>C",
          "hgvs_p": "p.Tyr205Tyr"
        }
      ],
      "clinvar_disease": "Pityriasis rubra pilaris,Psoriasis 2",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Pityriasis rubra pilaris;Psoriasis 2",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}