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GeneBe API Showcase

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

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

Documentation & Advanced Usage

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

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

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

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

All tools documented at:docs.genebe.net

API Request Examples for Variant: 12-2688701-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2688701&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 2688701,
      "ref": "C",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_199460.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6039C>G",
          "hgvs_p": "p.Pro2013Pro",
          "transcript": "NM_000719.7",
          "protein_id": "NP_000710.5",
          "transcript_support_level": null,
          "aa_start": 2013,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 6039,
          "cds_end": null,
          "cds_length": 6417,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000399655.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000719.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6039C>G",
          "hgvs_p": "p.Pro2013Pro",
          "transcript": "NM_001167623.2",
          "protein_id": "NP_001161095.1",
          "transcript_support_level": null,
          "aa_start": 2013,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 6039,
          "cds_end": null,
          "cds_length": 6417,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "ENST00000399603.6",
          "biotype": "protein_coding",
          "feature": "NM_001167623.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6039C>G",
          "hgvs_p": "p.Pro2013Pro",
          "transcript": "ENST00000399603.6",
          "protein_id": "ENSP00000382512.1",
          "transcript_support_level": 5,
          "aa_start": 2013,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 6039,
          "cds_end": null,
          "cds_length": 6417,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "NM_001167623.2",
          "biotype": "protein_coding",
          "feature": "ENST00000399603.6"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6039C>G",
          "hgvs_p": "p.Pro2013Pro",
          "transcript": "ENST00000399655.6",
          "protein_id": "ENSP00000382563.1",
          "transcript_support_level": 1,
          "aa_start": 2013,
          "aa_end": null,
          "aa_length": 2138,
          "cds_start": 6039,
          "cds_end": null,
          "cds_length": 6417,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000719.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000399655.6"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 49,
          "exon_rank_end": null,
          "exon_count": 50,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6378C>G",
          "hgvs_p": "p.Pro2126Pro",
          "transcript": "ENST00000682544.1",
          "protein_id": "ENSP00000507184.1",
          "transcript_support_level": null,
          "aa_start": 2126,
          "aa_end": null,
          "aa_length": 2251,
          "cds_start": 6378,
          "cds_end": null,
          "cds_length": 6756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000682544.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6252C>G",
          "hgvs_p": "p.Pro2084Pro",
          "transcript": "ENST00000406454.8",
          "protein_id": "ENSP00000385896.3",
          "transcript_support_level": 5,
          "aa_start": 2084,
          "aa_end": null,
          "aa_length": 2209,
          "cds_start": 6252,
          "cds_end": null,
          "cds_length": 6630,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000406454.8"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6219C>G",
          "hgvs_p": "p.Pro2073Pro",
          "transcript": "ENST00000399634.6",
          "protein_id": "ENSP00000382542.2",
          "transcript_support_level": 5,
          "aa_start": 2073,
          "aa_end": null,
          "aa_length": 2198,
          "cds_start": 6219,
          "cds_end": null,
          "cds_length": 6597,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000399634.6"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6204C>G",
          "hgvs_p": "p.Pro2068Pro",
          "transcript": "ENST00000683824.1",
          "protein_id": "ENSP00000507867.1",
          "transcript_support_level": null,
          "aa_start": 2068,
          "aa_end": null,
          "aa_length": 2193,
          "cds_start": 6204,
          "cds_end": null,
          "cds_length": 6582,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000683824.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6183C>G",
          "hgvs_p": "p.Pro2061Pro",
          "transcript": "ENST00000347598.9",
          "protein_id": "ENSP00000266376.6",
          "transcript_support_level": 1,
          "aa_start": 2061,
          "aa_end": null,
          "aa_length": 2186,
          "cds_start": 6183,
          "cds_end": null,
          "cds_length": 6561,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000347598.9"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6162C>G",
          "hgvs_p": "p.Pro2054Pro",
          "transcript": "ENST00000344100.7",
          "protein_id": "ENSP00000341092.3",
          "transcript_support_level": 1,
          "aa_start": 2054,
          "aa_end": null,
          "aa_length": 2179,
          "cds_start": 6162,
          "cds_end": null,
          "cds_length": 6540,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000344100.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6144C>G",
          "hgvs_p": "p.Pro2048Pro",
          "transcript": "ENST00000327702.12",
          "protein_id": "ENSP00000329877.7",
          "transcript_support_level": 1,
          "aa_start": 2048,
          "aa_end": null,
          "aa_length": 2173,
          "cds_start": 6144,
          "cds_end": null,
          "cds_length": 6522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000327702.12"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6144C>G",
          "hgvs_p": "p.Pro2048Pro",
          "transcript": "ENST00000399617.6",
          "protein_id": "ENSP00000382526.1",
          "transcript_support_level": 5,
          "aa_start": 2048,
          "aa_end": null,
          "aa_length": 2173,
          "cds_start": 6144,
          "cds_end": null,
          "cds_length": 6522,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000399617.6"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6129C>G",
          "hgvs_p": "p.Pro2043Pro",
          "transcript": "ENST00000682462.1",
          "protein_id": "ENSP00000507105.1",
          "transcript_support_level": null,
          "aa_start": 2043,
          "aa_end": null,
          "aa_length": 2168,
          "cds_start": 6129,
          "cds_end": null,
          "cds_length": 6507,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000682462.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6129C>G",
          "hgvs_p": "p.Pro2043Pro",
          "transcript": "ENST00000683781.1",
          "protein_id": "ENSP00000507434.1",
          "transcript_support_level": null,
          "aa_start": 2043,
          "aa_end": null,
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          "cds_start": 6129,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000683781.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6129C>G",
          "hgvs_p": "p.Pro2043Pro",
          "transcript": "ENST00000683840.1",
          "protein_id": "ENSP00000507612.1",
          "transcript_support_level": null,
          "aa_start": 2043,
          "aa_end": null,
          "aa_length": 2168,
          "cds_start": 6129,
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          "cds_length": 6507,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000683840.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6129C>G",
          "hgvs_p": "p.Pro2043Pro",
          "transcript": "ENST00000683956.1",
          "protein_id": "ENSP00000506882.1",
          "transcript_support_level": null,
          "aa_start": 2043,
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          "aa_length": 2168,
          "cds_start": 6129,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000683956.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6123C>G",
          "hgvs_p": "p.Pro2041Pro",
          "transcript": "ENST00000399638.5",
          "protein_id": "ENSP00000382547.1",
          "transcript_support_level": 1,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
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          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6114C>G",
          "hgvs_p": "p.Pro2038Pro",
          "transcript": "ENST00000335762.10",
          "protein_id": "ENSP00000336982.5",
          "transcript_support_level": 5,
          "aa_start": 2038,
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          "aa_length": 2163,
          "cds_start": 6114,
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          "biotype": "protein_coding",
          "feature": "ENST00000335762.10"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 47,
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          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6099C>G",
          "hgvs_p": "p.Pro2033Pro",
          "transcript": "ENST00000399606.5",
          "protein_id": "ENSP00000382515.1",
          "transcript_support_level": 1,
          "aa_start": 2033,
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          "aa_length": 2158,
          "cds_start": 6099,
          "cds_end": null,
          "cds_length": 6477,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000399606.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 47,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1C",
          "gene_hgnc_id": 1390,
          "hgvs_c": "c.6096C>G",
          "hgvs_p": "p.Pro2032Pro",
          "transcript": "ENST00000399621.5",
          "protein_id": "ENSP00000382530.1",
          "transcript_support_level": 1,
          "aa_start": 2032,
          "aa_end": null,
          "aa_length": 2157,
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      "gene_hgnc_id": 1390,
      "dbsnp": "rs780157730",
      "frequency_reference_population": 0.0000020561438,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 3,
      "gnomad_exomes_af": 0.00000205614,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 3,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8299999833106995,
      "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": -0.83,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -5.126,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -11,
      "acmg_classification": "Benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -11,
          "benign_score": 13,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7"
          ],
          "verdict": "Benign",
          "transcript": "NM_199460.4",
          "gene_symbol": "CACNA1C",
          "hgnc_id": 1390,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.6288C>G",
          "hgvs_p": "p.Pro2096Pro"
        },
        {
          "score": -10,
          "benign_score": 12,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Very_Strong"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000501371.5",
          "gene_symbol": "ITFG2-AS1",
          "hgnc_id": 53128,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.294+1439G>C",
          "hgvs_p": null
        },
        {
          "score": -10,
          "benign_score": 12,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Very_Strong"
          ],
          "verdict": "Benign",
          "transcript": "NR_045725.1",
          "gene_symbol": "CACNA1C-AS1",
          "hgnc_id": 40119,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.333+1439G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Cardiovascular phenotype,Long QT syndrome",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Long QT syndrome|Cardiovascular phenotype",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}