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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: 22-17109137-GGG-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17109137&ref=GGG&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "IL17RA",
"hgnc_id": 5985,
"hgvs_c": "c.1918_1920delGGGinsCGA",
"hgvs_p": "p.Gly640Arg",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014339.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 866,
"aa_ref": "G",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8566,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2601,
"cds_start": 1918,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014339.7",
"gene_hgnc_id": 5985,
"gene_symbol": "IL17RA",
"hgvs_c": "c.1918_1920delGGGinsCGA",
"hgvs_p": "p.Gly640Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319363.11",
"protein_coding": true,
"protein_id": "NP_055154.3",
"strand": true,
"transcript": "NM_014339.7",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 866,
"aa_ref": "G",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8566,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2601,
"cds_start": 1918,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000319363.11",
"gene_hgnc_id": 5985,
"gene_symbol": "IL17RA",
"hgvs_c": "c.1918_1920delGGGinsCGA",
"hgvs_p": "p.Gly640Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014339.7",
"protein_coding": true,
"protein_id": "ENSP00000320936.6",
"strand": true,
"transcript": "ENST00000319363.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 862,
"aa_ref": "G",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5704,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 2589,
"cds_start": 1906,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940705.1",
"gene_hgnc_id": 5985,
"gene_symbol": "IL17RA",
"hgvs_c": "c.1906_1908delGGGinsCGA",
"hgvs_p": "p.Gly636Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610764.1",
"strand": true,
"transcript": "ENST00000940705.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 832,
"aa_ref": "G",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1816,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289905.2",
"gene_hgnc_id": 5985,
"gene_symbol": "IL17RA",
"hgvs_c": "c.1816_1818delGGGinsCGA",
"hgvs_p": "p.Gly606Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276834.1",
"strand": true,
"transcript": "NM_001289905.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 832,
"aa_ref": "G",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1816,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000612619.2",
"gene_hgnc_id": 5985,
"gene_symbol": "IL17RA",
"hgvs_c": "c.1816_1818delGGGinsCGA",
"hgvs_p": "p.Gly606Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479970.1",
"strand": true,
"transcript": "ENST00000612619.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 753,
"aa_ref": "G",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962147.1",
"gene_hgnc_id": 5985,
"gene_symbol": "IL17RA",
"hgvs_c": "c.1579_1581delGGGinsCGA",
"hgvs_p": "p.Gly527Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632206.1",
"strand": true,
"transcript": "ENST00000962147.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 5985,
"gene_symbol": "IL17RA",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.157,
"pos": 17109137,
"ref": "GGG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_014339.7"
}
]
}