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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: 10-125794978-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=125794978&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 125794978,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000368797.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "NM_000375.3",
"protein_id": "NP_000366.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 265,
"cds_start": 562,
"cds_end": null,
"cds_length": 798,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": "ENST00000368797.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000368797.10",
"protein_id": "ENSP00000357787.4",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 265,
"cds_start": 562,
"cds_end": null,
"cds_length": 798,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": "NM_000375.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000368786.5",
"protein_id": "ENSP00000357775.1",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 265,
"cds_start": 562,
"cds_end": null,
"cds_length": 798,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "NM_001324036.2",
"protein_id": "NP_001310965.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 292,
"cds_start": 562,
"cds_end": null,
"cds_length": 879,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000650587.1",
"protein_id": "ENSP00000497366.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 292,
"cds_start": 562,
"cds_end": null,
"cds_length": 879,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Arg",
"transcript": "NM_001324037.2",
"protein_id": "NP_001310966.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 265,
"cds_start": 481,
"cds_end": null,
"cds_length": 798,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000649536.1",
"protein_id": "ENSP00000497817.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 265,
"cds_start": 481,
"cds_end": null,
"cds_length": 798,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "ENST00000713579.1",
"protein_id": "ENSP00000518871.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 265,
"cds_start": 562,
"cds_end": null,
"cds_length": 798,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Arg",
"transcript": "NM_001324038.2",
"protein_id": "NP_001310967.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 238,
"cds_start": 481,
"cds_end": null,
"cds_length": 717,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Gly160Arg",
"transcript": "ENST00000420761.5",
"protein_id": "ENSP00000414833.1",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 184,
"cds_start": 478,
"cds_end": null,
"cds_length": 556,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Gly48Arg",
"transcript": "ENST00000622016.4",
"protein_id": "ENSP00000483041.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 122,
"cds_start": 142,
"cds_end": null,
"cds_length": 369,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000462490.5",
"protein_id": "ENSP00000478957.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 109,
"cds_start": 220,
"cds_end": null,
"cds_length": 330,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.61G>A",
"hgvs_p": "p.Gly21Arg",
"transcript": "ENST00000616800.4",
"protein_id": "ENSP00000482520.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 67,
"cds_start": 61,
"cds_end": null,
"cds_length": 204,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "XM_017016611.3",
"protein_id": "XP_016872100.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 292,
"cds_start": 562,
"cds_end": null,
"cds_length": 879,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "XM_024448154.2",
"protein_id": "XP_024303922.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 265,
"cds_start": 562,
"cds_end": null,
"cds_length": 798,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Arg",
"transcript": "XM_047425708.1",
"protein_id": "XP_047281664.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 265,
"cds_start": 481,
"cds_end": null,
"cds_length": 798,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "XM_017016612.3",
"protein_id": "XP_016872101.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 262,
"cds_start": 562,
"cds_end": null,
"cds_length": 789,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "XM_011540127.3",
"protein_id": "XP_011538429.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 234,
"cds_start": 562,
"cds_end": null,
"cds_length": 705,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "XM_005270140.6",
"protein_id": "XP_005270197.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 223,
"cds_start": 562,
"cds_end": null,
"cds_length": 672,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Gly188Arg",
"transcript": "XM_047425709.1",
"protein_id": "XP_047281665.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 223,
"cds_start": 562,
"cds_end": null,
"cds_length": 672,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Arg",
"transcript": "XM_024448155.2",
"protein_id": "XP_024303923.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 196,
"cds_start": 481,
"cds_end": null,
"cds_length": 591,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.124G>A",
"hgvs_p": null,
"transcript": "ENST00000464267.1",
"protein_id": "ENSP00000497095.1",
"transcript_support_level": 3,
"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": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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}
],
"message": null
}