← 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: 22-28695169-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=28695169&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CHEK2",
"hgnc_id": 16627,
"hgvs_c": "c.1462T>C",
"hgvs_p": "p.Tyr488His",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001005735.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9418,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Familial cancer of breast,Hereditary cancer-predisposing syndrome,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8444886803627014,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_007194.4",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000404276.6",
"protein_coding": true,
"protein_id": "NP_009125.1",
"strand": false,
"transcript": "NM_007194.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000404276.6",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007194.4",
"protein_coding": true,
"protein_id": "ENSP00000385747.1",
"strand": false,
"transcript": "ENST00000404276.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 586,
"aa_ref": "Y",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000382580.6",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1462T>C",
"hgvs_p": "p.Tyr488His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372023.2",
"strand": false,
"transcript": "ENST00000382580.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 476,
"aa_ref": "Y",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1591,
"cdna_start": 1138,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000402731.6",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Tyr378His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384835.2",
"strand": false,
"transcript": "ENST00000402731.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 452,
"aa_ref": "Y",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1359,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000403642.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1060T>C",
"hgvs_p": "p.Tyr354His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384919.1",
"strand": false,
"transcript": "ENST00000403642.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000416671.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*823T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402225.1",
"strand": false,
"transcript": "ENST00000416671.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000416671.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*823T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402225.1",
"strand": false,
"transcript": "ENST00000416671.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 586,
"aa_ref": "Y",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001005735.3",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1462T>C",
"hgvs_p": "p.Tyr488His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005735.1",
"strand": false,
"transcript": "NM_001005735.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 574,
"aa_ref": "Y",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1426,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001438293.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1426T>C",
"hgvs_p": "p.Tyr476His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425222.1",
"strand": false,
"transcript": "NM_001438293.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 557,
"aa_ref": "Y",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1375,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001438294.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1375T>C",
"hgvs_p": "p.Tyr459His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425223.1",
"strand": false,
"transcript": "NM_001438294.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 546,
"aa_ref": "Y",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000928685.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1342T>C",
"hgvs_p": "p.Tyr448His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598744.1",
"strand": false,
"transcript": "ENST00000928685.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 545,
"aa_ref": "Y",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001438295.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1339T>C",
"hgvs_p": "p.Tyr447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425224.1",
"strand": false,
"transcript": "NM_001438295.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000405598.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386087.1",
"strand": false,
"transcript": "ENST00000405598.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000650281.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497000.1",
"strand": false,
"transcript": "ENST00000650281.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899937.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569996.1",
"strand": false,
"transcript": "ENST00000899937.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 2148,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000928690.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598749.1",
"strand": false,
"transcript": "ENST00000928690.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000928691.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598750.1",
"strand": false,
"transcript": "ENST00000928691.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000928694.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598753.1",
"strand": false,
"transcript": "ENST00000928694.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954618.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624677.1",
"strand": false,
"transcript": "ENST00000954618.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 541,
"aa_ref": "Y",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000928683.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1327T>C",
"hgvs_p": "p.Tyr443His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598742.1",
"strand": false,
"transcript": "ENST00000928683.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 539,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000928693.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598752.1",
"strand": false,
"transcript": "ENST00000928693.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 514,
"aa_ref": "Y",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_145862.3",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1246T>C",
"hgvs_p": "p.Tyr416His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_665861.1",
"strand": false,
"transcript": "NM_145862.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 514,
"aa_ref": "Y",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000348295.7",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1246T>C",
"hgvs_p": "p.Tyr416His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000329012.5",
"strand": false,
"transcript": "ENST00000348295.7",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 514,
"aa_ref": "Y",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5057,
"cdna_start": 4607,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000928692.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1246T>C",
"hgvs_p": "p.Tyr416His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598751.1",
"strand": false,
"transcript": "ENST00000928692.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 506,
"aa_ref": "Y",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000928695.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1222T>C",
"hgvs_p": "p.Tyr408His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598754.1",
"strand": false,
"transcript": "ENST00000928695.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 503,
"aa_ref": "Y",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000928684.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1213T>C",
"hgvs_p": "p.Tyr405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598743.1",
"strand": false,
"transcript": "ENST00000928684.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 489,
"aa_ref": "Y",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000928688.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1171T>C",
"hgvs_p": "p.Tyr391His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598747.1",
"strand": false,
"transcript": "ENST00000928688.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 476,
"aa_ref": "Y",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001349956.3",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1132T>C",
"hgvs_p": "p.Tyr378His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336885.1",
"strand": false,
"transcript": "NM_001349956.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 450,
"aa_ref": "Y",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1054,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000928696.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1054T>C",
"hgvs_p": "p.Tyr352His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598755.1",
"strand": false,
"transcript": "ENST00000928696.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "Y",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1138,
"cdna_start": 685,
"cds_end": null,
"cds_length": 972,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000464581.6",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.673T>C",
"hgvs_p": "p.Tyr225His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483777.2",
"strand": false,
"transcript": "ENST00000464581.6",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "Y",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 969,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001257387.3",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Tyr224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244316.1",
"strand": false,
"transcript": "NM_001257387.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "Y",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 969,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001437942.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Tyr224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424871.1",
"strand": false,
"transcript": "NM_001437942.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "Y",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1510,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 969,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000425190.7",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Tyr224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390244.2",
"strand": false,
"transcript": "ENST00000425190.7",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "Y",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1224,
"cdna_start": 779,
"cds_end": null,
"cds_length": 969,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000649563.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.670T>C",
"hgvs_p": "p.Tyr224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496928.1",
"strand": false,
"transcript": "ENST00000649563.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 275,
"aa_ref": "Y",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": 531,
"cds_end": null,
"cds_length": 828,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000434810.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.529T>C",
"hgvs_p": "p.Tyr177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416721.1",
"strand": false,
"transcript": "ENST00000434810.5",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 596,
"aa_ref": "Y",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 3035,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1492,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011529839.3",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1492T>C",
"hgvs_p": "p.Tyr498His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528141.1",
"strand": false,
"transcript": "XM_011529839.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 584,
"aa_ref": "Y",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1456,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017028560.2",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1456T>C",
"hgvs_p": "p.Tyr486His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884049.1",
"strand": false,
"transcript": "XM_017028560.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 567,
"aa_ref": "Y",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1405,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011529840.4",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1405T>C",
"hgvs_p": "p.Tyr469His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528142.1",
"strand": false,
"transcript": "XM_011529840.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 553,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3357,
"cdna_start": 2904,
"cds_end": null,
"cds_length": 1662,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_024452148.2",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1363T>C",
"hgvs_p": "p.Tyr455His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307916.1",
"strand": false,
"transcript": "XM_024452148.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 529,
"aa_ref": "Y",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047441107.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1291T>C",
"hgvs_p": "p.Tyr431His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297063.1",
"strand": false,
"transcript": "XM_047441107.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 524,
"aa_ref": "Y",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_024452149.2",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1276T>C",
"hgvs_p": "p.Tyr426His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307917.1",
"strand": false,
"transcript": "XM_024452149.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 486,
"aa_ref": "Y",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011529842.3",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1162T>C",
"hgvs_p": "p.Tyr388His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528144.1",
"strand": false,
"transcript": "XM_011529842.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 383,
"aa_ref": "Y",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1327,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1152,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006724114.4",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.853T>C",
"hgvs_p": "p.Tyr285His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724177.3",
"strand": false,
"transcript": "XM_006724114.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 362,
"aa_ref": "Y",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1271,
"cdna_start": 818,
"cds_end": null,
"cds_length": 1089,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006724116.3",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.790T>C",
"hgvs_p": "p.Tyr264His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724179.2",
"strand": false,
"transcript": "XM_006724116.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 354,
"aa_ref": "Y",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1240,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1065,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047441108.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.766T>C",
"hgvs_p": "p.Tyr256His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297064.1",
"strand": false,
"transcript": "XM_047441108.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 408,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1432,
"cdna_start": null,
"cds_end": null,
"cds_length": 1227,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928687.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1137+4669T>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598746.1",
"strand": false,
"transcript": "ENST00000928687.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 365,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1302,
"cdna_start": null,
"cds_end": null,
"cds_length": 1098,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928689.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1008+4669T>C",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598748.1",
"strand": false,
"transcript": "ENST00000928689.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 338,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1232,
"cdna_start": null,
"cds_end": null,
"cds_length": 1017,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928686.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.847-5954T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598745.1",
"strand": false,
"transcript": "ENST00000928686.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 143,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 588,
"cdna_start": null,
"cds_end": null,
"cds_length": 432,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456369.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.261+4669T>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394430.1",
"strand": false,
"transcript": "ENST00000456369.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000417588.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*630T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412901.1",
"strand": false,
"transcript": "ENST00000417588.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000433728.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*401T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404400.1",
"strand": false,
"transcript": "ENST00000433728.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000448511.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*725T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404567.1",
"strand": false,
"transcript": "ENST00000448511.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000648295.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.885T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648295.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000711048.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*68T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518557.1",
"strand": false,
"transcript": "ENST00000711048.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000417588.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*630T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412901.1",
"strand": false,
"transcript": "ENST00000417588.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000433728.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*401T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404400.1",
"strand": false,
"transcript": "ENST00000433728.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000448511.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*725T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404567.1",
"strand": false,
"transcript": "ENST00000448511.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000711048.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*68T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000518557.1",
"strand": false,
"transcript": "ENST00000711048.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587778194",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657298,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified|Familial cancer of breast|Hereditary cancer-predisposing syndrome",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.679,
"pos": 28695169,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.501,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001005735.3"
}
]
}