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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: 11-10591596-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=10591596&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 10591596,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_130385.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"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": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Gly731Glu",
"transcript": "NM_130385.4",
"protein_id": "NP_569056.4",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 912,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000423302.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130385.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"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": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.2192G>A",
"hgvs_p": "p.Gly731Glu",
"transcript": "ENST00000423302.7",
"protein_id": "ENSP00000412130.2",
"transcript_support_level": 2,
"aa_start": 731,
"aa_end": null,
"aa_length": 912,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_130385.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423302.7"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Gly416Glu",
"transcript": "ENST00000534266.6",
"protein_id": "ENSP00000433296.2",
"transcript_support_level": 2,
"aa_start": 416,
"aa_end": null,
"aa_length": 597,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534266.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "n.*84G>A",
"hgvs_p": null,
"transcript": "ENST00000526414.5",
"protein_id": "ENSP00000435658.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526414.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "n.*84G>A",
"hgvs_p": null,
"transcript": "ENST00000526414.5",
"protein_id": "ENSP00000435658.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526414.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.2294G>A",
"hgvs_p": "p.Gly765Glu",
"transcript": "ENST00000894514.1",
"protein_id": "ENSP00000564573.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 946,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894514.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Gly723Glu",
"transcript": "NM_001098579.3",
"protein_id": "NP_001092049.2",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 904,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098579.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Gly723Glu",
"transcript": "ENST00000531107.5",
"protein_id": "ENSP00000432436.1",
"transcript_support_level": 2,
"aa_start": 723,
"aa_end": null,
"aa_length": 904,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531107.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1919G>A",
"hgvs_p": "p.Gly640Glu",
"transcript": "NM_001100163.3",
"protein_id": "NP_001093633.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 821,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100163.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Gly525Glu",
"transcript": "NM_001206880.2",
"protein_id": "NP_001193809.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 706,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206880.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Gly525Glu",
"transcript": "ENST00000541483.5",
"protein_id": "ENSP00000437784.1",
"transcript_support_level": 2,
"aa_start": 525,
"aa_end": null,
"aa_length": 706,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541483.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Gly416Glu",
"transcript": "NM_001100167.3",
"protein_id": "NP_001093637.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 597,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100167.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Gly416Glu",
"transcript": "NM_001206881.2",
"protein_id": "NP_001193810.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 597,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206881.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Gly416Glu",
"transcript": "ENST00000424001.5",
"protein_id": "ENSP00000401205.1",
"transcript_support_level": 5,
"aa_start": 416,
"aa_end": null,
"aa_length": 597,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424001.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Gly416Glu",
"transcript": "ENST00000547195.5",
"protein_id": "ENSP00000448278.2",
"transcript_support_level": 2,
"aa_start": 416,
"aa_end": null,
"aa_length": 597,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547195.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Gly416Glu",
"transcript": "ENST00000558540.5",
"protein_id": "ENSP00000453013.1",
"transcript_support_level": 2,
"aa_start": 416,
"aa_end": null,
"aa_length": 597,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558540.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "n.*1717G>A",
"hgvs_p": null,
"transcript": "ENST00000529448.5",
"protein_id": "ENSP00000434741.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529448.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "n.549G>A",
"hgvs_p": null,
"transcript": "ENST00000529471.1",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000529471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "n.*1717G>A",
"hgvs_p": null,
"transcript": "ENST00000529448.5",
"protein_id": "ENSP00000434741.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529448.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRAG1-AS1",
"gene_hgnc_id": 43434,
"hgvs_c": "n.300-2521C>T",
"hgvs_p": null,
"transcript": "ENST00000529829.8",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000529829.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IRAG1-AS1",
"gene_hgnc_id": 43434,
"hgvs_c": "n.485+2446C>T",
"hgvs_p": null,
"transcript": "ENST00000529979.7",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000529979.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LYVE1",
"gene_hgnc_id": 14687,
"hgvs_c": "n.123+19971G>A",
"hgvs_p": null,
"transcript": "ENST00000531706.1",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000531706.1"
},
{
"aa_ref": null,
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{
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}