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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: 12-2682598-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2682598&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2682598,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000347598.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5493G>A",
"hgvs_p": "p.Thr1831Thr",
"transcript": "NM_000719.7",
"protein_id": "NP_000710.5",
"transcript_support_level": null,
"aa_start": 1831,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5493,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6069,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "ENST00000399655.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5493G>A",
"hgvs_p": "p.Thr1831Thr",
"transcript": "NM_001167623.2",
"protein_id": "NP_001161095.1",
"transcript_support_level": null,
"aa_start": 1831,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5493,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6069,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "ENST00000399603.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5493G>A",
"hgvs_p": "p.Thr1831Thr",
"transcript": "ENST00000399603.6",
"protein_id": "ENSP00000382512.1",
"transcript_support_level": 5,
"aa_start": 1831,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5493,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6069,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "NM_001167623.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5493G>A",
"hgvs_p": "p.Thr1831Thr",
"transcript": "ENST00000399655.6",
"protein_id": "ENSP00000382563.1",
"transcript_support_level": 1,
"aa_start": 1831,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5493,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6069,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "NM_000719.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5832G>A",
"hgvs_p": "p.Thr1944Thr",
"transcript": "ENST00000682544.1",
"protein_id": "ENSP00000507184.1",
"transcript_support_level": null,
"aa_start": 1944,
"aa_end": null,
"aa_length": 2251,
"cds_start": 5832,
"cds_end": null,
"cds_length": 6756,
"cdna_start": 6123,
"cdna_end": null,
"cdna_length": 7047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5706G>A",
"hgvs_p": "p.Thr1902Thr",
"transcript": "ENST00000406454.8",
"protein_id": "ENSP00000385896.3",
"transcript_support_level": 5,
"aa_start": 1902,
"aa_end": null,
"aa_length": 2209,
"cds_start": 5706,
"cds_end": null,
"cds_length": 6630,
"cdna_start": 6282,
"cdna_end": null,
"cdna_length": 8166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5673G>A",
"hgvs_p": "p.Thr1891Thr",
"transcript": "ENST00000399634.6",
"protein_id": "ENSP00000382542.2",
"transcript_support_level": 5,
"aa_start": 1891,
"aa_end": null,
"aa_length": 2198,
"cds_start": 5673,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 6249,
"cdna_end": null,
"cdna_length": 8133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5658G>A",
"hgvs_p": "p.Thr1886Thr",
"transcript": "ENST00000683824.1",
"protein_id": "ENSP00000507867.1",
"transcript_support_level": null,
"aa_start": 1886,
"aa_end": null,
"aa_length": 2193,
"cds_start": 5658,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 5658,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5637G>A",
"hgvs_p": "p.Thr1879Thr",
"transcript": "ENST00000347598.9",
"protein_id": "ENSP00000266376.6",
"transcript_support_level": 1,
"aa_start": 1879,
"aa_end": null,
"aa_length": 2186,
"cds_start": 5637,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 6213,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5616G>A",
"hgvs_p": "p.Thr1872Thr",
"transcript": "ENST00000344100.7",
"protein_id": "ENSP00000341092.3",
"transcript_support_level": 1,
"aa_start": 1872,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5616,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5616,
"cdna_end": null,
"cdna_length": 6634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5598G>A",
"hgvs_p": "p.Thr1866Thr",
"transcript": "ENST00000327702.12",
"protein_id": "ENSP00000329877.7",
"transcript_support_level": 1,
"aa_start": 1866,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5598,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 6174,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5598G>A",
"hgvs_p": "p.Thr1866Thr",
"transcript": "ENST00000399617.6",
"protein_id": "ENSP00000382526.1",
"transcript_support_level": 5,
"aa_start": 1866,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5598,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 5835,
"cdna_end": null,
"cdna_length": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5583G>A",
"hgvs_p": "p.Thr1861Thr",
"transcript": "ENST00000682462.1",
"protein_id": "ENSP00000507105.1",
"transcript_support_level": null,
"aa_start": 1861,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5583,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5771,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5583G>A",
"hgvs_p": "p.Thr1861Thr",
"transcript": "ENST00000683781.1",
"protein_id": "ENSP00000507434.1",
"transcript_support_level": null,
"aa_start": 1861,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5583,
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"cds_length": 6507,
"cdna_start": 5771,
"cdna_end": null,
"cdna_length": 6750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5583G>A",
"hgvs_p": "p.Thr1861Thr",
"transcript": "ENST00000683840.1",
"protein_id": "ENSP00000507612.1",
"transcript_support_level": null,
"aa_start": 1861,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5583,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5599,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5583G>A",
"hgvs_p": "p.Thr1861Thr",
"transcript": "ENST00000683956.1",
"protein_id": "ENSP00000506882.1",
"transcript_support_level": null,
"aa_start": 1861,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5583,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5599,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5577G>A",
"hgvs_p": "p.Thr1859Thr",
"transcript": "ENST00000399638.5",
"protein_id": "ENSP00000382547.1",
"transcript_support_level": 1,
"aa_start": 1859,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5577,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 5577,
"cdna_end": null,
"cdna_length": 6595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5568G>A",
"hgvs_p": "p.Thr1856Thr",
"transcript": "ENST00000335762.10",
"protein_id": "ENSP00000336982.5",
"transcript_support_level": 5,
"aa_start": 1856,
"aa_end": null,
"aa_length": 2163,
"cds_start": 5568,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 6123,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5553G>A",
"hgvs_p": "p.Thr1851Thr",
"transcript": "ENST00000399606.5",
"protein_id": "ENSP00000382515.1",
"transcript_support_level": 1,
"aa_start": 1851,
"aa_end": null,
"aa_length": 2158,
"cds_start": 5553,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 5553,
"cdna_end": null,
"cdna_length": 6571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5550G>A",
"hgvs_p": "p.Thr1850Thr",
"transcript": "ENST00000399621.5",
"protein_id": "ENSP00000382530.1",
"transcript_support_level": 1,
"aa_start": 1850,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5550,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5550,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5550G>A",
"hgvs_p": "p.Thr1850Thr",
"transcript": "ENST00000399637.5",
"protein_id": "ENSP00000382546.1",
"transcript_support_level": 1,
"aa_start": 1850,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5550,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5550,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5550G>A",
"hgvs_p": "p.Thr1850Thr",
"transcript": "ENST00000402845.7",
"protein_id": "ENSP00000385724.3",
"transcript_support_level": 1,
"aa_start": 1850,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5550,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5550,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.901,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
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"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000347598.9",
"gene_symbol": "CACNA1C",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Thr1879Thr"
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{
"score": -10,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000839342.1",
"gene_symbol": "ITFG2-AS1",
"hgnc_id": 53128,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.306C>T",
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},
{
"score": -10,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NR_045725.1",
"gene_symbol": "CACNA1C-AS1",
"hgnc_id": 40119,
"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "Brugada syndrome 3,CACNA1C-related disorder,Cardiovascular phenotype,Long QT syndrome,Long qt syndrome 8,Timothy syndrome,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "Long QT syndrome|not specified|Cardiovascular phenotype|Long qt syndrome 8;Timothy syndrome;Brugada syndrome 3|CACNA1C-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}