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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: 15-34873910-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34873910&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34873910,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014691.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3515G>C",
"hgvs_p": "p.Gly1172Ala",
"transcript": "NM_014691.3",
"protein_id": "NP_055506.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1485,
"cds_start": 3515,
"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": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3515G>C",
"hgvs_p": "p.Gly1172Ala",
"transcript": "ENST00000156471.10",
"protein_id": "ENSP00000156471.5",
"transcript_support_level": 1,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1485,
"cds_start": 3515,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3479G>C",
"hgvs_p": "p.Gly1160Ala",
"transcript": "ENST00000875393.1",
"protein_id": "ENSP00000545452.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1473,
"cds_start": 3479,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3458G>C",
"hgvs_p": "p.Gly1153Ala",
"transcript": "ENST00000945427.1",
"protein_id": "ENSP00000615486.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1466,
"cds_start": 3458,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3515G>C",
"hgvs_p": "p.Gly1172Ala",
"transcript": "ENST00000875395.1",
"protein_id": "ENSP00000545454.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3515,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3401G>C",
"hgvs_p": "p.Gly1134Ala",
"transcript": "ENST00000911769.1",
"protein_id": "ENSP00000581828.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3401,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3377G>C",
"hgvs_p": "p.Gly1126Ala",
"transcript": "ENST00000875394.1",
"protein_id": "ENSP00000545453.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1439,
"cds_start": 3377,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3374G>C",
"hgvs_p": "p.Gly1125Ala",
"transcript": "ENST00000875392.1",
"protein_id": "ENSP00000545451.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3374,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3368G>C",
"hgvs_p": "p.Gly1123Ala",
"transcript": "ENST00000875391.1",
"protein_id": "ENSP00000545450.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3368,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3515G>C",
"hgvs_p": "p.Gly1172Ala",
"transcript": "ENST00000945428.1",
"protein_id": "ENSP00000615487.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3515,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.1076G>C",
"hgvs_p": "p.Gly359Ala",
"transcript": "ENST00000911767.1",
"protein_id": "ENSP00000581826.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 672,
"cds_start": 1076,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "c.3166-2988G>C",
"hgvs_p": null,
"transcript": "ENST00000911768.1",
"protein_id": "ENSP00000581827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1341,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "n.*2277G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQR",
"gene_hgnc_id": 29513,
"hgvs_c": "n.*2277G>C",
"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": null,
"frequency_reference_population": 0.000004110721,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000411072,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8571071624755859,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.85,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8907,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.84,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014691.3",
"gene_symbol": "AQR",
"hgnc_id": 29513,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3515G>C",
"hgvs_p": "p.Gly1172Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}