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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: 12-132727250-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=132727250&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 132727250,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015114.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Ala937Thr",
"transcript": "NM_015114.3",
"protein_id": "NP_055929.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 938,
"cds_start": 2809,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357997.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015114.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Ala937Thr",
"transcript": "ENST00000357997.10",
"protein_id": "ENSP00000350686.5",
"transcript_support_level": 1,
"aa_start": 937,
"aa_end": null,
"aa_length": 938,
"cds_start": 2809,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015114.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357997.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Ala292Thr",
"transcript": "ENST00000542282.5",
"protein_id": "ENSP00000437807.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 293,
"cds_start": 874,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542282.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"hgvs_c": "n.9308G>A",
"hgvs_p": null,
"transcript": "ENST00000539605.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000539605.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Ala292Thr",
"transcript": "ENST00000542657.5",
"protein_id": "ENSP00000438551.1",
"transcript_support_level": 2,
"aa_start": 292,
"aa_end": null,
"aa_length": 293,
"cds_start": 874,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542657.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"hgvs_c": "c.2623G>A",
"hgvs_p": "p.Ala875Thr",
"transcript": "XM_005266159.4",
"protein_id": "XP_005266216.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 876,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266159.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Ala500Thr",
"transcript": "XM_024448899.2",
"protein_id": "XP_024304667.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 501,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448899.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"hgvs_c": "c.*174G>A",
"hgvs_p": null,
"transcript": "XM_006719735.2",
"protein_id": "XP_006719798.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": null,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719735.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"hgvs_c": "c.*100G>A",
"hgvs_p": null,
"transcript": "ENST00000538766.1",
"protein_id": "ENSP00000445760.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538766.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"hgvs_c": "n.*36G>A",
"hgvs_p": null,
"transcript": "ENST00000542374.5",
"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": "ENST00000542374.5"
}
],
"gene_symbol": "ANKLE2",
"gene_hgnc_id": 29101,
"dbsnp": "rs114394359",
"frequency_reference_population": 0.00028904743,
"hom_count_reference_population": 1,
"allele_count_reference_population": 450,
"gnomad_exomes_af": 0.000167325,
"gnomad_genomes_af": 0.00141091,
"gnomad_exomes_ac": 235,
"gnomad_genomes_ac": 215,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004317492246627808,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0873,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.26,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015114.3",
"gene_symbol": "ANKLE2",
"hgnc_id": 29101,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Ala937Thr"
}
],
"clinvar_disease": "ANKLE2-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided|ANKLE2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}