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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: 15-57963929-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=57963929&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 57963929,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000249750.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Val348Ile",
"transcript": "NM_003888.4",
"protein_id": "NP_003879.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 518,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": "ENST00000249750.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Val348Ile",
"transcript": "ENST00000249750.9",
"protein_id": "ENSP00000249750.4",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 518,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": "NM_003888.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Ile",
"transcript": "ENST00000347587.7",
"protein_id": "ENSP00000309623.3",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 480,
"cds_start": 928,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Ile",
"transcript": "ENST00000559517.5",
"protein_id": "ENSP00000453408.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 422,
"cds_start": 754,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "n.863G>A",
"hgvs_p": null,
"transcript": "ENST00000560312.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "NM_001206897.2",
"protein_id": "NP_001193826.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 497,
"cds_start": 979,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000537372.5",
"protein_id": "ENSP00000438296.1",
"transcript_support_level": 2,
"aa_start": 327,
"aa_end": null,
"aa_length": 497,
"cds_start": 979,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"transcript": "ENST00000558231.5",
"protein_id": "ENSP00000453600.1",
"transcript_support_level": 2,
"aa_start": 319,
"aa_end": null,
"aa_length": 489,
"cds_start": 955,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Ile",
"transcript": "NM_170696.3",
"protein_id": "NP_733797.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 480,
"cds_start": 928,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Ile",
"transcript": "NM_170697.3",
"protein_id": "NP_733798.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 422,
"cds_start": 754,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "n.*1016G>A",
"hgvs_p": null,
"transcript": "ENST00000430119.6",
"protein_id": "ENSP00000416754.2",
"transcript_support_level": 2,
"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": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"hgvs_c": "n.*1016G>A",
"hgvs_p": null,
"transcript": "ENST00000430119.6",
"protein_id": "ENSP00000416754.2",
"transcript_support_level": 2,
"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": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALDH1A2",
"gene_hgnc_id": 15472,
"dbsnp": "rs4646626",
"frequency_reference_population": 0.4962647,
"hom_count_reference_population": 204577,
"allele_count_reference_population": 800869,
"gnomad_exomes_af": 0.50031,
"gnomad_genomes_af": 0.457377,
"gnomad_exomes_ac": 731323,
"gnomad_genomes_ac": 69546,
"gnomad_exomes_homalt": 188131,
"gnomad_genomes_homalt": 16446,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0006577968597412109,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.181,
"revel_prediction": "Benign",
"alphamissense_score": 0.0745,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.98,
"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": -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": "ENST00000249750.9",
"gene_symbol": "ALDH1A2",
"hgnc_id": 15472,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Val348Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}