← Back to variant description
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: 11-10603124-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=10603124&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 10603124,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_130385.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1871G>A",
"hgvs_p": "p.Arg624His",
"transcript": "NM_130385.4",
"protein_id": "NP_569056.4",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 912,
"cds_start": 1871,
"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": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1871G>A",
"hgvs_p": "p.Arg624His",
"transcript": "ENST00000423302.7",
"protein_id": "ENSP00000412130.2",
"transcript_support_level": 2,
"aa_start": 624,
"aa_end": null,
"aa_length": 912,
"cds_start": 1871,
"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": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "ENST00000534266.6",
"protein_id": "ENSP00000433296.2",
"transcript_support_level": 2,
"aa_start": 309,
"aa_end": null,
"aa_length": 597,
"cds_start": 926,
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "n.1100G>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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659His",
"transcript": "ENST00000894514.1",
"protein_id": "ENSP00000564573.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 946,
"cds_start": 1976,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1847G>A",
"hgvs_p": "p.Arg616His",
"transcript": "NM_001098579.3",
"protein_id": "NP_001092049.2",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 904,
"cds_start": 1847,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1847G>A",
"hgvs_p": "p.Arg616His",
"transcript": "ENST00000531107.5",
"protein_id": "ENSP00000432436.1",
"transcript_support_level": 2,
"aa_start": 616,
"aa_end": null,
"aa_length": 904,
"cds_start": 1847,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533His",
"transcript": "NM_001100163.3",
"protein_id": "NP_001093633.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 821,
"cds_start": 1598,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418His",
"transcript": "NM_001206880.2",
"protein_id": "NP_001193809.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 706,
"cds_start": 1253,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418His",
"transcript": "ENST00000541483.5",
"protein_id": "ENSP00000437784.1",
"transcript_support_level": 2,
"aa_start": 418,
"aa_end": null,
"aa_length": 706,
"cds_start": 1253,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "NM_001100167.3",
"protein_id": "NP_001093637.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 597,
"cds_start": 926,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "NM_001206881.2",
"protein_id": "NP_001193810.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 597,
"cds_start": 926,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "ENST00000424001.5",
"protein_id": "ENSP00000401205.1",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 597,
"cds_start": 926,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "ENST00000547195.5",
"protein_id": "ENSP00000448278.2",
"transcript_support_level": 2,
"aa_start": 309,
"aa_end": null,
"aa_length": 597,
"cds_start": 926,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "ENST00000558540.5",
"protein_id": "ENSP00000453013.1",
"transcript_support_level": 2,
"aa_start": 309,
"aa_end": null,
"aa_length": 597,
"cds_start": 926,
"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": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "n.*1396G>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": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"hgvs_c": "n.*1396G>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": [
"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+8443G>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,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRAG1-AS1",
"gene_hgnc_id": 43434,
"hgvs_c": "n.282-3078C>T",
"hgvs_p": null,
"transcript": "ENST00000803642.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000803642.1"
}
],
"gene_symbol": "IRAG1",
"gene_hgnc_id": 7237,
"dbsnp": "rs779791411",
"frequency_reference_population": 0.00002362476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000212847,
"gnomad_genomes_af": 0.0000460417,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38852459192276,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.23,
"revel_prediction": "Benign",
"alphamissense_score": 0.6734,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.33,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_130385.4",
"gene_symbol": "IRAG1",
"hgnc_id": 7237,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1871G>A",
"hgvs_p": "p.Arg624His"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000803642.1",
"gene_symbol": "IRAG1-AS1",
"hgnc_id": 43434,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.282-3078C>T",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000531706.1",
"gene_symbol": "LYVE1",
"hgnc_id": 14687,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.123+8443G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}