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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: 22-28694087-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=28694087&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 28694087,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000404276.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1406T>G",
"hgvs_p": "p.Val469Gly",
"transcript": "NM_007194.4",
"protein_id": "NP_009125.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 543,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": "ENST00000404276.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1406T>G",
"hgvs_p": "p.Val469Gly",
"transcript": "ENST00000404276.6",
"protein_id": "ENSP00000385747.1",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 543,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": "NM_007194.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1535T>G",
"hgvs_p": "p.Val512Gly",
"transcript": "ENST00000382580.6",
"protein_id": "ENSP00000372023.2",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 586,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1205T>G",
"hgvs_p": "p.Val402Gly",
"transcript": "ENST00000402731.6",
"protein_id": "ENSP00000384835.2",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 476,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1133T>G",
"hgvs_p": "p.Val378Gly",
"transcript": "ENST00000403642.5",
"protein_id": "ENSP00000384919.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 452,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1133,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*896T>G",
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*896T>G",
"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": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1535T>G",
"hgvs_p": "p.Val512Gly",
"transcript": "NM_001005735.3",
"protein_id": "NP_001005735.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 586,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1499T>G",
"hgvs_p": "p.Val500Gly",
"transcript": "NM_001438293.1",
"protein_id": "NP_001425222.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 574,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1448T>G",
"hgvs_p": "p.Val483Gly",
"transcript": "NM_001438294.1",
"protein_id": "NP_001425223.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 557,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1412T>G",
"hgvs_p": "p.Val471Gly",
"transcript": "NM_001438295.1",
"protein_id": "NP_001425224.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 545,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1406T>G",
"hgvs_p": "p.Val469Gly",
"transcript": "ENST00000405598.5",
"protein_id": "ENSP00000386087.1",
"transcript_support_level": 5,
"aa_start": 469,
"aa_end": null,
"aa_length": 543,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1406T>G",
"hgvs_p": "p.Val469Gly",
"transcript": "ENST00000650281.1",
"protein_id": "ENSP00000497000.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 543,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1319T>G",
"hgvs_p": "p.Val440Gly",
"transcript": "NM_145862.3",
"protein_id": "NP_665861.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 514,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1319T>G",
"hgvs_p": "p.Val440Gly",
"transcript": "ENST00000348295.7",
"protein_id": "ENSP00000329012.5",
"transcript_support_level": 5,
"aa_start": 440,
"aa_end": null,
"aa_length": 514,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1205T>G",
"hgvs_p": "p.Val402Gly",
"transcript": "NM_001349956.3",
"protein_id": "NP_001336885.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 476,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.746T>G",
"hgvs_p": "p.Val249Gly",
"transcript": "ENST00000464581.6",
"protein_id": "ENSP00000483777.2",
"transcript_support_level": 2,
"aa_start": 249,
"aa_end": null,
"aa_length": 323,
"cds_start": 746,
"cds_end": null,
"cds_length": 972,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Val248Gly",
"transcript": "NM_001257387.3",
"protein_id": "NP_001244316.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 322,
"cds_start": 743,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Val248Gly",
"transcript": "NM_001437942.1",
"protein_id": "NP_001424871.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 322,
"cds_start": 743,
"cds_end": null,
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"cdna_start": 1139,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Val248Gly",
"transcript": "ENST00000425190.7",
"protein_id": "ENSP00000390244.2",
"transcript_support_level": 5,
"aa_start": 248,
"aa_end": null,
"aa_length": 322,
"cds_start": 743,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.743T>G",
"hgvs_p": "p.Val248Gly",
"transcript": "ENST00000649563.1",
"protein_id": "ENSP00000496928.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 322,
"cds_start": 743,
"cds_end": null,
"cds_length": 969,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.602T>G",
"hgvs_p": "p.Val201Gly",
"transcript": "ENST00000434810.5",
"protein_id": "ENSP00000416721.1",
"transcript_support_level": 3,
"aa_start": 201,
"aa_end": null,
"aa_length": 275,
"cds_start": 602,
"cds_end": null,
"cds_length": 828,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1565T>G",
"hgvs_p": "p.Val522Gly",
"transcript": "XM_011529839.3",
"protein_id": "XP_011528141.1",
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