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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: 22-28689206-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=28689206&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 28689206,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001005735.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "NM_007194.4",
"protein_id": "NP_009125.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 543,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": "ENST00000404276.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007194.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "ENST00000404276.6",
"protein_id": "ENSP00000385747.1",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 543,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": "NM_007194.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404276.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1600A>G",
"hgvs_p": "p.Met534Val",
"transcript": "ENST00000382580.6",
"protein_id": "ENSP00000372023.2",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 586,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382580.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Met424Val",
"transcript": "ENST00000402731.6",
"protein_id": "ENSP00000384835.2",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 476,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402731.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1198A>G",
"hgvs_p": "p.Met400Val",
"transcript": "ENST00000403642.5",
"protein_id": "ENSP00000384919.1",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 452,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403642.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*961A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416671.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*961A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416671.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1600A>G",
"hgvs_p": "p.Met534Val",
"transcript": "NM_001005735.3",
"protein_id": "NP_001005735.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 586,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005735.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1564A>G",
"hgvs_p": "p.Met522Val",
"transcript": "NM_001438293.1",
"protein_id": "NP_001425222.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 574,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438293.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1513A>G",
"hgvs_p": "p.Met505Val",
"transcript": "NM_001438294.1",
"protein_id": "NP_001425223.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 557,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438294.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Met494Val",
"transcript": "ENST00000928685.1",
"protein_id": "ENSP00000598744.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 546,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928685.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1477A>G",
"hgvs_p": "p.Met493Val",
"transcript": "NM_001438295.1",
"protein_id": "NP_001425224.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 545,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438295.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "ENST00000405598.5",
"protein_id": "ENSP00000386087.1",
"transcript_support_level": 5,
"aa_start": 491,
"aa_end": null,
"aa_length": 543,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405598.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "ENST00000650281.1",
"protein_id": "ENSP00000497000.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 543,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650281.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "ENST00000899937.1",
"protein_id": "ENSP00000569996.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 543,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899937.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "ENST00000928690.1",
"protein_id": "ENSP00000598749.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 543,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928690.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "ENST00000928691.1",
"protein_id": "ENSP00000598750.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 543,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928691.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "ENST00000928694.1",
"protein_id": "ENSP00000598753.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 543,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928694.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "ENST00000954618.1",
"protein_id": "ENSP00000624677.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 543,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954618.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1465A>G",
"hgvs_p": "p.Met489Val",
"transcript": "ENST00000928683.1",
"protein_id": "ENSP00000598742.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 541,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928683.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1471A>G",
"hgvs_p": "p.Met491Val",
"transcript": "ENST00000928693.1",
"protein_id": "ENSP00000598752.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 539,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928693.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1384A>G",
"hgvs_p": "p.Met462Val",
"transcript": "NM_145862.3",
"protein_id": "NP_665861.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 514,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 1758,
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}