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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: 7-150951464-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150951464&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150951464,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000238.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.Cys643Cys",
"transcript": "NM_000238.4",
"protein_id": "NP_000229.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1929,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": "ENST00000262186.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.Cys643Cys",
"transcript": "ENST00000262186.10",
"protein_id": "ENSP00000262186.5",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1929,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": "NM_000238.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Cys303Cys",
"transcript": "ENST00000330883.9",
"protein_id": "ENSP00000328531.4",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 819,
"cds_start": 909,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3165,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.1227C>T",
"hgvs_p": null,
"transcript": "ENST00000461280.2",
"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": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.Cys643Cys",
"transcript": "ENST00000713710.1",
"protein_id": "ENSP00000519013.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1929,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.Cys547Cys",
"transcript": "NM_001406753.1",
"protein_id": "NP_001393682.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1641,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"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": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Cys543Cys",
"transcript": "ENST00000713701.1",
"protein_id": "ENSP00000519004.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1059,
"cds_start": 1629,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.Cys643Cys",
"transcript": "NM_172056.3",
"protein_id": "NP_742053.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 888,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1752C>T",
"hgvs_p": "p.Cys584Cys",
"transcript": "NM_001406755.1",
"protein_id": "NP_001393684.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 829,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Cys303Cys",
"transcript": "NM_172057.3",
"protein_id": "NP_742054.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 819,
"cds_start": 909,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.Cys547Cys",
"transcript": "NM_001406756.1",
"protein_id": "NP_001393685.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 792,
"cds_start": 1641,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Cys543Cys",
"transcript": "NM_001406757.1",
"protein_id": "NP_001393686.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 788,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Cys303Cys",
"transcript": "NM_001204798.2",
"protein_id": "NP_001191727.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 548,
"cds_start": 909,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Cys669Cys",
"transcript": "XM_047420348.1",
"protein_id": "XP_047276304.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1185,
"cds_start": 2007,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"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": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Cys593Cys",
"transcript": "XM_017012195.2",
"protein_id": "XP_016867684.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1109,
"cds_start": 1779,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1752C>T",
"hgvs_p": "p.Cys584Cys",
"transcript": "XM_017012196.2",
"protein_id": "XP_016867685.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1752,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"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": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Cys543Cys",
"transcript": "XM_011516185.3",
"protein_id": "XP_011514487.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1059,
"cds_start": 1629,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Cys669Cys",
"transcript": "XM_047420349.1",
"protein_id": "XP_047276305.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 936,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 2962,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.1234C>T",
"hgvs_p": null,
"transcript": "ENST00000473610.5",
"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": 2782,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.2152C>T",
"hgvs_p": null,
"transcript": "ENST00000532957.5",
"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": 3374,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.53C>T",
"hgvs_p": null,
"transcript": "ENST00000683359.1",
"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": 510,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.2762C>T",
"hgvs_p": null,
"transcript": "ENST00000684241.1",
"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": 4717,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.1887C>T",
"hgvs_p": null,
"transcript": "ENST00000713700.1",
"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": 3115,
"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": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.2337C>T",
"hgvs_p": null,
"transcript": "NR_176254.1",
"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": 4105,
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"hgvs_c": "n.1210C>T",
"hgvs_p": null,
"transcript": "NR_176255.1",
"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": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNH2",
"gene_hgnc_id": 6251,
"dbsnp": "rs755698372",
"frequency_reference_population": 0.0000043369755,
"hom_count_reference_population": 1,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342048,
"gnomad_genomes_af": 0.0000131368,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.366,
"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": "NM_000238.4",
"gene_symbol": "KCNH2",
"hgnc_id": 6251,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.Cys643Cys"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}