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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: 11-113400106-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=113400106&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 113400106,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000303941.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKK1",
"gene_hgnc_id": 21027,
"hgvs_c": "c.2137G>C",
"hgvs_p": "p.Glu713Gln",
"transcript": "NM_178510.2",
"protein_id": "NP_848605.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 765,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": "ENST00000303941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKK1",
"gene_hgnc_id": 21027,
"hgvs_c": "c.2137G>C",
"hgvs_p": "p.Glu713Gln",
"transcript": "ENST00000303941.4",
"protein_id": "ENSP00000306678.3",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 765,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": "NM_178510.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKK1",
"gene_hgnc_id": 21027,
"hgvs_c": "c.2170G>C",
"hgvs_p": "p.Glu724Gln",
"transcript": "XM_011542736.3",
"protein_id": "XP_011541038.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 776,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKK1",
"gene_hgnc_id": 21027,
"hgvs_c": "c.2167G>C",
"hgvs_p": "p.Glu723Gln",
"transcript": "XM_017017475.2",
"protein_id": "XP_016872964.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 775,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKK1",
"gene_hgnc_id": 21027,
"hgvs_c": "c.2140G>C",
"hgvs_p": "p.Glu714Gln",
"transcript": "XM_011542737.3",
"protein_id": "XP_011541039.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 766,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKK1",
"gene_hgnc_id": 21027,
"hgvs_c": "c.1948G>C",
"hgvs_p": "p.Glu650Gln",
"transcript": "XM_011542738.2",
"protein_id": "XP_011541040.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 702,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 4299,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKK1",
"gene_hgnc_id": 21027,
"dbsnp": "rs1800497",
"frequency_reference_population": 6.846895e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8469e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05189937353134155,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0831,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.438,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000303941.4",
"gene_symbol": "ANKK1",
"hgnc_id": 21027,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2137G>C",
"hgvs_p": "p.Glu713Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}