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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: 11-1456609-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1456609&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 1456609,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000528841.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1861C>A",
"hgvs_p": "p.Arg621Ser",
"transcript": "NM_001256627.2",
"protein_id": "NP_001243556.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 736,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 4528,
"mane_select": "ENST00000528841.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1861C>A",
"hgvs_p": "p.Arg621Ser",
"transcript": "ENST00000528841.6",
"protein_id": "ENSP00000432000.1",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 736,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 4528,
"mane_select": "NM_001256627.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1927C>A",
"hgvs_p": "p.Arg643Ser",
"transcript": "ENST00000526678.5",
"protein_id": "ENSP00000433370.1",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 696,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1861C>A",
"hgvs_p": "p.Arg621Ser",
"transcript": "ENST00000531197.5",
"protein_id": "ENSP00000431152.1",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 674,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1861C>A",
"hgvs_p": "p.Arg621Ser",
"transcript": "ENST00000308219.13",
"protein_id": "ENSP00000310697.9",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 668,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.Arg117Ser",
"transcript": "ENST00000544817.5",
"protein_id": "ENSP00000445168.2",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 170,
"cds_start": 349,
"cds_end": null,
"cds_length": 513,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "n.1861C>A",
"hgvs_p": null,
"transcript": "ENST00000529433.5",
"protein_id": "ENSP00000433684.1",
"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": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.2293C>A",
"hgvs_p": "p.Arg765Ser",
"transcript": "NM_001440665.1",
"protein_id": "NP_001427594.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 812,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.2227C>A",
"hgvs_p": "p.Arg743Ser",
"transcript": "NM_001440666.1",
"protein_id": "NP_001427595.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 790,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1999C>A",
"hgvs_p": "p.Arg667Ser",
"transcript": "NM_001256630.1",
"protein_id": "NP_001243559.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 766,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1999C>A",
"hgvs_p": "p.Arg667Ser",
"transcript": "ENST00000382179.5",
"protein_id": "ENSP00000371614.1",
"transcript_support_level": 2,
"aa_start": 667,
"aa_end": null,
"aa_length": 766,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1999C>A",
"hgvs_p": "p.Arg667Ser",
"transcript": "NM_001440667.1",
"protein_id": "NP_001427596.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 714,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1927C>A",
"hgvs_p": "p.Arg643Ser",
"transcript": "NM_001440668.1",
"protein_id": "NP_001427597.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 690,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1681C>A",
"hgvs_p": "p.Arg561Ser",
"transcript": "NM_001440669.1",
"protein_id": "NP_001427598.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 676,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1861C>A",
"hgvs_p": "p.Arg621Ser",
"transcript": "NM_001256629.2",
"protein_id": "NP_001243558.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 674,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1927C>A",
"hgvs_p": "p.Arg643Ser",
"transcript": "NM_001440670.1",
"protein_id": "NP_001427599.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 674,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1861C>A",
"hgvs_p": "p.Arg621Ser",
"transcript": "NM_003957.4",
"protein_id": "NP_003948.2",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 668,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1747C>A",
"hgvs_p": "p.Arg583Ser",
"transcript": "NM_001440671.1",
"protein_id": "NP_001427600.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 630,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1681C>A",
"hgvs_p": "p.Arg561Ser",
"transcript": "NM_001282218.2",
"protein_id": "NP_001269147.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 614,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1747C>A",
"hgvs_p": "p.Arg583Ser",
"transcript": "NM_001440672.1",
"protein_id": "NP_001427601.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 614,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1681C>A",
"hgvs_p": "p.Arg561Ser",
"transcript": "ENST00000528710.5",
"protein_id": "ENSP00000433235.1",
"transcript_support_level": 2,
"aa_start": 561,
"aa_end": null,
"aa_length": 614,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
"hgvs_c": "c.1681C>A",
"hgvs_p": "p.Arg561Ser",
"transcript": "NM_001440673.1",
"protein_id": "NP_001427602.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 608,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRSK2",
"gene_hgnc_id": 11405,
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}