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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: 10-98420153-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98420153&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 98420153,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000361490.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1749G>C",
"hgvs_p": "p.Trp583Cys",
"transcript": "NM_000195.5",
"protein_id": "NP_000186.2",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 700,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": "ENST00000361490.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1749G>C",
"hgvs_p": "p.Trp583Cys",
"transcript": "ENST00000361490.9",
"protein_id": "ENSP00000355310.4",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 700,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": "NM_000195.5",
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "n.*1108G>C",
"hgvs_p": null,
"transcript": "ENST00000467246.5",
"protein_id": "ENSP00000514163.1",
"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": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289758",
"gene_hgnc_id": null,
"hgvs_c": "n.*1108G>C",
"hgvs_p": null,
"transcript": "ENST00000699159.1",
"protein_id": "ENSP00000514167.1",
"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": 3093,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "n.*1108G>C",
"hgvs_p": null,
"transcript": "ENST00000467246.5",
"protein_id": "ENSP00000514163.1",
"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": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289758",
"gene_hgnc_id": null,
"hgvs_c": "n.*1108G>C",
"hgvs_p": null,
"transcript": "ENST00000699159.1",
"protein_id": "ENSP00000514167.1",
"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": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.2007G>C",
"hgvs_p": "p.Trp669Cys",
"transcript": "ENST00000699134.1",
"protein_id": "ENSP00000514151.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 786,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1779G>C",
"hgvs_p": "p.Trp593Cys",
"transcript": "ENST00000699125.1",
"protein_id": "ENSP00000514146.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 710,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1749G>C",
"hgvs_p": "p.Trp583Cys",
"transcript": "NM_001322476.2",
"protein_id": "NP_001309405.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 700,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1749G>C",
"hgvs_p": "p.Trp583Cys",
"transcript": "NM_001322477.2",
"protein_id": "NP_001309406.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 700,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1749G>C",
"hgvs_p": "p.Trp583Cys",
"transcript": "ENST00000325103.10",
"protein_id": "ENSP00000326649.6",
"transcript_support_level": 5,
"aa_start": 583,
"aa_end": null,
"aa_length": 700,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1749G>C",
"hgvs_p": "p.Trp583Cys",
"transcript": "ENST00000699142.1",
"protein_id": "ENSP00000514159.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 700,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1650G>C",
"hgvs_p": "p.Trp550Cys",
"transcript": "NM_001322478.2",
"protein_id": "NP_001309407.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 667,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1813,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1650G>C",
"hgvs_p": "p.Trp550Cys",
"transcript": "NM_001322479.2",
"protein_id": "NP_001309408.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 667,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1650G>C",
"hgvs_p": "p.Trp550Cys",
"transcript": "ENST00000699136.1",
"protein_id": "ENSP00000514153.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 667,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1650G>C",
"hgvs_p": "p.Trp550Cys",
"transcript": "ENST00000699140.1",
"protein_id": "ENSP00000514157.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 667,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1749G>C",
"hgvs_p": "p.Trp583Cys",
"transcript": "ENST00000699146.1",
"protein_id": "ENSP00000514164.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 663,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1581G>C",
"hgvs_p": "p.Trp527Cys",
"transcript": "ENST00000699131.1",
"protein_id": "ENSP00000514149.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 644,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Trp496Cys",
"transcript": "NM_001322480.2",
"protein_id": "NP_001309409.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 613,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Trp496Cys",
"transcript": "NM_001322481.2",
"protein_id": "NP_001309410.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 613,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1488G>C",
"hgvs_p": "p.Trp496Cys",
"transcript": "ENST00000699139.1",
"protein_id": "ENSP00000514156.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 613,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1482G>C",
"hgvs_p": "p.Trp494Cys",
"transcript": "ENST00000699133.1",
"protein_id": "ENSP00000514150.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 611,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1389G>C",
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{
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],
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"custom_annotations": null
}
],
"message": null
}