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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: 16-2235356-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2235356&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2235356,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000301727.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.2139C>T",
"hgvs_p": "p.Ile713Ile",
"transcript": "NM_004424.5",
"protein_id": "NP_004415.4",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 784,
"cds_start": 2139,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": "ENST00000301727.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.2139C>T",
"hgvs_p": "p.Ile713Ile",
"transcript": "ENST00000301727.9",
"protein_id": "ENSP00000301727.4",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 784,
"cds_start": 2139,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": "NM_004424.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.1608C>T",
"hgvs_p": "p.Ile536Ile",
"transcript": "ENST00000565090.5",
"protein_id": "ENSP00000456760.1",
"transcript_support_level": 1,
"aa_start": 536,
"aa_end": null,
"aa_length": 607,
"cds_start": 1608,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.*122C>T",
"hgvs_p": null,
"transcript": "ENST00000564139.5",
"protein_id": "ENSP00000457672.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.1608C>T",
"hgvs_p": "p.Ile536Ile",
"transcript": "NM_001288778.2",
"protein_id": "NP_001275707.2",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 607,
"cds_start": 1608,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.2298C>T",
"hgvs_p": "p.Ile766Ile",
"transcript": "XM_005255155.2",
"protein_id": "XP_005255212.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 837,
"cds_start": 2298,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.2295C>T",
"hgvs_p": "p.Ile765Ile",
"transcript": "XM_005255156.2",
"protein_id": "XP_005255213.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 836,
"cds_start": 2295,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.2268C>T",
"hgvs_p": "p.Ile756Ile",
"transcript": "XM_011522402.2",
"protein_id": "XP_011520704.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 827,
"cds_start": 2268,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.2265C>T",
"hgvs_p": "p.Ile755Ile",
"transcript": "XM_017023010.2",
"protein_id": "XP_016878499.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 826,
"cds_start": 2265,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.2136C>T",
"hgvs_p": "p.Ile712Ile",
"transcript": "XM_006720858.2",
"protein_id": "XP_006720921.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 783,
"cds_start": 2136,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.2109C>T",
"hgvs_p": "p.Ile703Ile",
"transcript": "XM_047433696.1",
"protein_id": "XP_047289652.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 774,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.2106C>T",
"hgvs_p": "p.Ile702Ile",
"transcript": "XM_047433697.1",
"protein_id": "XP_047289653.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 773,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "n.680C>T",
"hgvs_p": null,
"transcript": "ENST00000567111.1",
"protein_id": null,
"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": 691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "n.5546C>T",
"hgvs_p": null,
"transcript": "ENST00000569796.1",
"protein_id": null,
"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": 5931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.*122C>T",
"hgvs_p": null,
"transcript": "NM_001288776.2",
"protein_id": "NP_001275705.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"dbsnp": "rs26840",
"frequency_reference_population": 0.4007416,
"hom_count_reference_population": 134148,
"allele_count_reference_population": 644887,
"gnomad_exomes_af": 0.408379,
"gnomad_genomes_af": 0.327567,
"gnomad_exomes_ac": 595068,
"gnomad_genomes_ac": 49819,
"gnomad_exomes_homalt": 124375,
"gnomad_genomes_homalt": 9773,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.407,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000301727.9",
"gene_symbol": "E4F1",
"hgnc_id": 3121,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2139C>T",
"hgvs_p": "p.Ile713Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}