← 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: 22-28695868-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=28695868&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 28695868,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000404276.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1100delC",
"hgvs_p": "p.Thr367fs",
"transcript": "NM_007194.4",
"protein_id": "NP_009125.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 543,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": "ENST00000404276.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1100delC",
"hgvs_p": "p.Thr367fs",
"transcript": "ENST00000404276.6",
"protein_id": "ENSP00000385747.1",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 543,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": "NM_007194.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1229delC",
"hgvs_p": "p.Thr410fs",
"transcript": "ENST00000382580.6",
"protein_id": "ENSP00000372023.2",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 586,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.899delC",
"hgvs_p": "p.Thr300fs",
"transcript": "ENST00000402731.6",
"protein_id": "ENSP00000384835.2",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 476,
"cds_start": 899,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.827delC",
"hgvs_p": "p.Thr276fs",
"transcript": "ENST00000403642.5",
"protein_id": "ENSP00000384919.1",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 452,
"cds_start": 827,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1359,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*590delC",
"hgvs_p": null,
"transcript": "ENST00000416671.5",
"protein_id": "ENSP00000402225.1",
"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": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*590delC",
"hgvs_p": null,
"transcript": "ENST00000416671.5",
"protein_id": "ENSP00000402225.1",
"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": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1229delC",
"hgvs_p": "p.Thr410fs",
"transcript": "NM_001005735.3",
"protein_id": "NP_001005735.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 586,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1193delC",
"hgvs_p": "p.Thr398fs",
"transcript": "NM_001438293.1",
"protein_id": "NP_001425222.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 574,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1142delC",
"hgvs_p": "p.Thr381fs",
"transcript": "NM_001438294.1",
"protein_id": "NP_001425223.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 557,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1106delC",
"hgvs_p": "p.Thr369fs",
"transcript": "NM_001438295.1",
"protein_id": "NP_001425224.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 545,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1100delC",
"hgvs_p": "p.Thr367fs",
"transcript": "ENST00000405598.5",
"protein_id": "ENSP00000386087.1",
"transcript_support_level": 5,
"aa_start": 367,
"aa_end": null,
"aa_length": 543,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1100delC",
"hgvs_p": "p.Thr367fs",
"transcript": "ENST00000650281.1",
"protein_id": "ENSP00000497000.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 543,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1013delC",
"hgvs_p": "p.Thr338fs",
"transcript": "NM_145862.3",
"protein_id": "NP_665861.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 514,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1013delC",
"hgvs_p": "p.Thr338fs",
"transcript": "ENST00000348295.7",
"protein_id": "ENSP00000329012.5",
"transcript_support_level": 5,
"aa_start": 338,
"aa_end": null,
"aa_length": 514,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.899delC",
"hgvs_p": "p.Thr300fs",
"transcript": "NM_001349956.3",
"protein_id": "NP_001336885.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 476,
"cds_start": 899,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.440delC",
"hgvs_p": "p.Thr147fs",
"transcript": "ENST00000464581.6",
"protein_id": "ENSP00000483777.2",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 323,
"cds_start": 440,
"cds_end": null,
"cds_length": 972,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.437delC",
"hgvs_p": "p.Thr146fs",
"transcript": "NM_001257387.3",
"protein_id": "NP_001244316.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 322,
"cds_start": 437,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.437delC",
"hgvs_p": "p.Thr146fs",
"transcript": "NM_001437942.1",
"protein_id": "NP_001424871.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 322,
"cds_start": 437,
"cds_end": null,
"cds_length": 969,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.437delC",
"hgvs_p": "p.Thr146fs",
"transcript": "ENST00000425190.7",
"protein_id": "ENSP00000390244.2",
"transcript_support_level": 5,
"aa_start": 146,
"aa_end": null,
"aa_length": 322,
"cds_start": 437,
"cds_end": null,
"cds_length": 969,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.437delC",
"hgvs_p": "p.Thr146fs",
"transcript": "ENST00000649563.1",
"protein_id": "ENSP00000496928.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 322,
"cds_start": 437,
"cds_end": null,
"cds_length": 969,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 1224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.329delC",
"hgvs_p": "p.Thr110fs",
"transcript": "ENST00000434810.5",
"protein_id": "ENSP00000416721.1",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 275,
"cds_start": 329,
"cds_end": null,
"cds_length": 828,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1259delC",
"hgvs_p": "p.Thr420fs",
"transcript": "XM_011529839.3",
"protein_id": "XP_011528141.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 596,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1223delC",
"hgvs_p": "p.Thr408fs",
"transcript": "XM_017028560.2",
"protein_id": "XP_016884049.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 584,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1172delC",
"hgvs_p": "p.Thr391fs",
"transcript": "XM_011529840.4",
"protein_id": "XP_011528142.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 567,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1130delC",
"hgvs_p": "p.Thr377fs",
"transcript": "XM_024452148.2",
"protein_id": "XP_024307916.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 553,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2671,
"cdna_end": null,
"cdna_length": 3357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1058delC",
"hgvs_p": "p.Thr353fs",
"transcript": "XM_047441107.1",
"protein_id": "XP_047297063.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 529,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1043delC",
"hgvs_p": "p.Thr348fs",
"transcript": "XM_024452149.2",
"protein_id": "XP_024307917.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 524,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.929delC",
"hgvs_p": "p.Thr310fs",
"transcript": "XM_011529842.3",
"protein_id": "XP_011528144.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 486,
"cds_start": 929,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.620delC",
"hgvs_p": "p.Thr207fs",
"transcript": "XM_006724114.4",
"protein_id": "XP_006724177.3",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 383,
"cds_start": 620,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.557delC",
"hgvs_p": "p.Thr186fs",
"transcript": "XM_006724116.3",
"protein_id": "XP_006724179.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 362,
"cds_start": 557,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 1271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.533delC",
"hgvs_p": "p.Thr178fs",
"transcript": "XM_047441108.1",
"protein_id": "XP_047297064.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 354,
"cds_start": 533,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1240,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*397delC",
"hgvs_p": null,
"transcript": "ENST00000417588.5",
"protein_id": "ENSP00000412901.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1551,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*168delC",
"hgvs_p": null,
"transcript": "ENST00000433728.5",
"protein_id": "ENSP00000404400.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1580,
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*492delC",
"hgvs_p": null,
"transcript": "ENST00000448511.5",
"protein_id": "ENSP00000404567.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1532,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.652delC",
"hgvs_p": null,
"transcript": "ENST00000648295.1",
"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": 1337,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.1181delC",
"hgvs_p": null,
"transcript": "XR_937806.3",
"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": 1264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*397delC",
"hgvs_p": null,
"transcript": "ENST00000417588.5",
"protein_id": "ENSP00000412901.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*168delC",
"hgvs_p": null,
"transcript": "ENST00000433728.5",
"protein_id": "ENSP00000404400.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*492delC",
"hgvs_p": null,
"transcript": "ENST00000448511.5",
"protein_id": "ENSP00000404567.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.261+3969delC",
"hgvs_p": null,
"transcript": "ENST00000456369.5",
"protein_id": "ENSP00000394430.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.1009-627delC",
"hgvs_p": null,
"transcript": "ENST00000711048.1",
"protein_id": "ENSP00000518557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"dbsnp": "rs555607708",
"frequency_reference_population": 0.0017200179,
"hom_count_reference_population": 0,
"allele_count_reference_population": 262,
"gnomad_exomes_af": 0.00219668,
"gnomad_genomes_af": 0.00172002,
"gnomad_exomes_ac": 3205,
"gnomad_genomes_ac": 262,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.668,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5,BS2_Supporting",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 1,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5",
"BS2_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000404276.6",
"gene_symbol": "CHEK2",
"hgnc_id": 16627,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1100delC",
"hgvs_p": "p.Thr367fs"
}
],
"clinvar_disease": " 1, BREAST/PROSTATE/COLORECTAL, familial, susceptibility to,Astrocytoma,Bone osteosarcoma,Breast and colorectal cancer,Breast and/or ovarian cancer,Breast cancer,Breast carcinoma,Breast neoplasm,Breast-ovarian cancer,CHEK2-related cancer predisposition,CHEK2-related disorder,Carcinoma of pancreas,Colorectal cancer,Familial cancer of breast,Familial prostate cancer,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome,Inherited breast cancer and ovarian cancer,Inherited prostate cancer,Leiomyosarcoma,Li-Fraumeni syndrome,Li-Fraumeni syndrome 1,Malignant tumor of breast,NICE approved PARP inhibitor treatment,Ovarian neoplasm,Predisposition to cancer,Prostate cancer,TUMOR PREDISPOSITION SYNDROME 4,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:61 US:1 O:2",
"phenotype_combined": "CHEK2-related cancer predisposition|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and colorectal cancer, susceptibility to|not provided|Breast neoplasm|Breast neoplasm;Leiomyosarcoma|Prostate cancer;Familial cancer of breast;CHEK2-related cancer predisposition;Bone osteosarcoma|Breast cancer, susceptibility to|Astrocytoma|Li-Fraumeni syndrome|Malignant tumor of breast|Breast and/or ovarian cancer|Carcinoma of pancreas|Breast carcinoma|Bone osteosarcoma|Colorectal cancer|Hereditary breast ovarian cancer syndrome|Predisposition to cancer|Li-Fraumeni syndrome 1|Inherited breast cancer and ovarian cancer|Familial prostate cancer;Familial cancer of breast;Colorectal cancer|Inherited prostate cancer|Ovarian neoplasm|TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL|Prostate cancer|CHEK2-related disorder|Breast-ovarian cancer, familial, susceptibility to, 1|Familial prostate cancer;CHEK2-related cancer predisposition;Bone osteosarcoma|NICE approved PARP inhibitor treatment",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}