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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: 1-51408279-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=51408279&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 51408279,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000371733.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Tyr443Tyr",
"transcript": "NM_001981.3",
"protein_id": "NP_001972.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 896,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 5163,
"mane_select": "ENST00000371733.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Tyr443Tyr",
"transcript": "ENST00000371733.8",
"protein_id": "ENSP00000360798.3",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 896,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 5163,
"mane_select": "NM_001981.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1275+1256C>T",
"hgvs_p": null,
"transcript": "ENST00000371730.6",
"protein_id": "ENSP00000360795.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": -4,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1440C>T",
"hgvs_p": "p.Tyr480Tyr",
"transcript": "NM_001410797.1",
"protein_id": "NP_001397726.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 933,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1440C>T",
"hgvs_p": "p.Tyr480Tyr",
"transcript": "ENST00000706292.1",
"protein_id": "ENSP00000516336.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 933,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1239C>T",
"hgvs_p": "p.Tyr413Tyr",
"transcript": "NM_001410796.1",
"protein_id": "NP_001397725.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 866,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1239C>T",
"hgvs_p": "p.Tyr413Tyr",
"transcript": "ENST00000706288.1",
"protein_id": "ENSP00000516334.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 866,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 5056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Tyr302Tyr",
"transcript": "ENST00000706287.1",
"protein_id": "ENSP00000516333.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 755,
"cds_start": 906,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Tyr129Tyr",
"transcript": "NM_001159969.2",
"protein_id": "NP_001153441.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 582,
"cds_start": 387,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Tyr129Tyr",
"transcript": "ENST00000493793.2",
"protein_id": "ENSP00000516332.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 582,
"cds_start": 387,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1440C>T",
"hgvs_p": "p.Tyr480Tyr",
"transcript": "XM_017000616.3",
"protein_id": "XP_016856105.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 865,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 5070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Tyr443Tyr",
"transcript": "XM_017000617.3",
"protein_id": "XP_016856106.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 828,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 4959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1239C>T",
"hgvs_p": "p.Tyr413Tyr",
"transcript": "XM_017000618.3",
"protein_id": "XP_016856107.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 798,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Tyr292Tyr",
"transcript": "XM_047449243.1",
"protein_id": "XP_047305199.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 745,
"cds_start": 876,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 4738,
"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": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.575C>T",
"hgvs_p": null,
"transcript": "ENST00000706289.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4281,
"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": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.832C>T",
"hgvs_p": null,
"transcript": "ENST00000706290.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4466,
"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": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.*277C>T",
"hgvs_p": null,
"transcript": "ENST00000706291.1",
"protein_id": "ENSP00000516335.1",
"transcript_support_level": null,
"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": 4071,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.*1292C>T",
"hgvs_p": null,
"transcript": "ENST00000706293.1",
"protein_id": "ENSP00000516337.1",
"transcript_support_level": null,
"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": 1598,
"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": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.*277C>T",
"hgvs_p": null,
"transcript": "ENST00000706291.1",
"protein_id": "ENSP00000516335.1",
"transcript_support_level": null,
"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": 4071,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.*1292C>T",
"hgvs_p": null,
"transcript": "ENST00000706293.1",
"protein_id": "ENSP00000516337.1",
"transcript_support_level": null,
"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": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"dbsnp": "rs1065754",
"frequency_reference_population": 0.69035625,
"hom_count_reference_population": 389759,
"allele_count_reference_population": 1112933,
"gnomad_exomes_af": 0.684976,
"gnomad_genomes_af": 0.741996,
"gnomad_exomes_ac": 1000068,
"gnomad_genomes_ac": 112865,
"gnomad_exomes_homalt": 346862,
"gnomad_genomes_homalt": 42897,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"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": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.665,
"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": "ENST00000371733.8",
"gene_symbol": "EPS15",
"hgnc_id": 3419,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Tyr443Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}