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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: 10-27001161-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27001161&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27001161,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000675936.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.561+4462A>G",
"hgvs_p": null,
"transcript": "ENST00000445828.5",
"protein_id": "ENSP00000394152.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 212,
"cds_start": -4,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.487+5756A>G",
"hgvs_p": null,
"transcript": "ENST00000674670.1",
"protein_id": "ENSP00000502448.1",
"transcript_support_level": null,
"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": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.322+5756A>G",
"hgvs_p": null,
"transcript": "ENST00000675439.1",
"protein_id": "ENSP00000502237.1",
"transcript_support_level": null,
"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": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "n.1521+4456A>G",
"hgvs_p": null,
"transcript": "ENST00000675936.1",
"protein_id": "ENSP00000502093.1",
"transcript_support_level": null,
"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": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.6085+5756A>G",
"hgvs_p": null,
"transcript": "XM_017015928.2",
"protein_id": "XP_016871417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2112,
"cds_start": -4,
"cds_end": null,
"cds_length": 6339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.6085+5756A>G",
"hgvs_p": null,
"transcript": "XM_047424821.1",
"protein_id": "XP_047280777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2112,
"cds_start": -4,
"cds_end": null,
"cds_length": 6339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.6085+5756A>G",
"hgvs_p": null,
"transcript": "XM_047424822.1",
"protein_id": "XP_047280778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2112,
"cds_start": -4,
"cds_end": null,
"cds_length": 6339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.6073+5756A>G",
"hgvs_p": null,
"transcript": "XM_017015929.2",
"protein_id": "XP_016871418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2108,
"cds_start": -4,
"cds_end": null,
"cds_length": 6327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.6085+5756A>G",
"hgvs_p": null,
"transcript": "XM_011519416.3",
"protein_id": "XP_011517718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": -4,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.6085+5756A>G",
"hgvs_p": null,
"transcript": "XM_047424825.1",
"protein_id": "XP_047280781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": -4,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.6085+5756A>G",
"hgvs_p": null,
"transcript": "XM_006717425.5",
"protein_id": "XP_006717488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2031,
"cds_start": -4,
"cds_end": null,
"cds_length": 6096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.6085+5756A>G",
"hgvs_p": null,
"transcript": "XM_017015932.2",
"protein_id": "XP_016871421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2031,
"cds_start": -4,
"cds_end": null,
"cds_length": 6096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4999+5756A>G",
"hgvs_p": null,
"transcript": "XM_047424828.1",
"protein_id": "XP_047280784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1669,
"cds_start": -4,
"cds_end": null,
"cds_length": 5010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4996+5756A>G",
"hgvs_p": null,
"transcript": "XM_047424830.1",
"protein_id": "XP_047280786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1668,
"cds_start": -4,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"hgvs_c": "c.4897+5756A>G",
"hgvs_p": null,
"transcript": "XM_047424832.1",
"protein_id": "XP_047280788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1635,
"cds_start": -4,
"cds_end": null,
"cds_length": 4908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD26",
"gene_hgnc_id": 29186,
"dbsnp": "rs12779247",
"frequency_reference_population": 0.09367077,
"hom_count_reference_population": 794,
"allele_count_reference_population": 14261,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0936708,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 14261,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 794,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.677,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000675936.1",
"gene_symbol": "ANKRD26",
"hgnc_id": 29186,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.1521+4456A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}