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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: 15-34862878-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34862878&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34862878,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014691.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4018A>T",
"hgvs_p": "p.Thr1340Ser",
"transcript": "NM_014691.3",
"protein_id": "NP_055506.1",
"transcript_support_level": null,
"aa_start": 1340,
"aa_end": null,
"aa_length": 1485,
"cds_start": 4018,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000156471.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014691.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.4018A>T",
"hgvs_p": "p.Thr1340Ser",
"transcript": "ENST00000156471.10",
"protein_id": "ENSP00000156471.5",
"transcript_support_level": 1,
"aa_start": 1340,
"aa_end": null,
"aa_length": 1485,
"cds_start": 4018,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014691.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000156471.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "n.2905A>T",
"hgvs_p": null,
"transcript": "ENST00000559090.5",
"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": "ENST00000559090.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3982A>T",
"hgvs_p": "p.Thr1328Ser",
"transcript": "ENST00000875393.1",
"protein_id": "ENSP00000545452.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1473,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875393.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3961A>T",
"hgvs_p": "p.Thr1321Ser",
"transcript": "ENST00000945427.1",
"protein_id": "ENSP00000615486.1",
"transcript_support_level": null,
"aa_start": 1321,
"aa_end": null,
"aa_length": 1466,
"cds_start": 3961,
"cds_end": null,
"cds_length": 4401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945427.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3913A>T",
"hgvs_p": "p.Thr1305Ser",
"transcript": "ENST00000875395.1",
"protein_id": "ENSP00000545454.1",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3913,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875395.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3904A>T",
"hgvs_p": "p.Thr1302Ser",
"transcript": "ENST00000911769.1",
"protein_id": "ENSP00000581828.1",
"transcript_support_level": null,
"aa_start": 1302,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3904,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911769.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3880A>T",
"hgvs_p": "p.Thr1294Ser",
"transcript": "ENST00000875394.1",
"protein_id": "ENSP00000545453.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1439,
"cds_start": 3880,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875394.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3877A>T",
"hgvs_p": "p.Thr1293Ser",
"transcript": "ENST00000875392.1",
"protein_id": "ENSP00000545451.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3877,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875392.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3871A>T",
"hgvs_p": "p.Thr1291Ser",
"transcript": "ENST00000875391.1",
"protein_id": "ENSP00000545450.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3871,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875391.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3847A>T",
"hgvs_p": "p.Thr1283Ser",
"transcript": "ENST00000945428.1",
"protein_id": "ENSP00000615487.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3847,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945428.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3586A>T",
"hgvs_p": "p.Thr1196Ser",
"transcript": "ENST00000911768.1",
"protein_id": "ENSP00000581827.1",
"transcript_support_level": null,
"aa_start": 1196,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3586,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911768.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.1579A>T",
"hgvs_p": "p.Thr527Ser",
"transcript": "ENST00000911767.1",
"protein_id": "ENSP00000581826.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 672,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "n.*2780A>T",
"hgvs_p": null,
"transcript": "ENST00000543879.6",
"protein_id": "ENSP00000445700.2",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000543879.6"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "n.347A>T",
"hgvs_p": null,
"transcript": "ENST00000559767.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000559767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "n.*2780A>T",
"hgvs_p": null,
"transcript": "ENST00000543879.6",
"protein_id": "ENSP00000445700.2",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000543879.6"
}
],
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"dbsnp": "rs555239193",
"frequency_reference_population": 0.0000095811665,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000958117,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14142638444900513,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.309,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1131,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.269,
"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_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014691.3",
"gene_symbol": "AQR",
"hgnc_id": 29513,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4018A>T",
"hgvs_p": "p.Thr1340Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}