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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: 22-20786992-CTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20786992&ref=CTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20786992,
"ref": "CTT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000215727.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPIND1",
"gene_hgnc_id": 4838,
"hgvs_c": "c.1429_1430delTT",
"hgvs_p": "p.Phe477fs",
"transcript": "NM_000185.4",
"protein_id": "NP_000176.2",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 499,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": "ENST00000215727.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPIND1",
"gene_hgnc_id": 4838,
"hgvs_c": "c.1429_1430delTT",
"hgvs_p": "p.Phe477fs",
"transcript": "ENST00000215727.10",
"protein_id": "ENSP00000215727.5",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 499,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": "NM_000185.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPIND1",
"gene_hgnc_id": 4838,
"hgvs_c": "c.1429_1430delTT",
"hgvs_p": "p.Phe477fs",
"transcript": "ENST00000406799.1",
"protein_id": "ENSP00000384050.1",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 499,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"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": 55,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+6199_2328+6200delAA",
"hgvs_p": null,
"transcript": "NM_058004.4",
"protein_id": "NP_477352.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2102,
"cds_start": -4,
"cds_end": null,
"cds_length": 6309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6751,
"mane_select": "ENST00000255882.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+6199_2328+6200delAA",
"hgvs_p": null,
"transcript": "ENST00000255882.11",
"protein_id": "ENSP00000255882.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2102,
"cds_start": -4,
"cds_end": null,
"cds_length": 6309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6751,
"mane_select": "NM_058004.4",
"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": 54,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2262+6199_2262+6200delAA",
"hgvs_p": null,
"transcript": "NM_001362863.2",
"protein_id": "NP_001349792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2080,
"cds_start": -4,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"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": 54,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+6199_2328+6200delAA",
"hgvs_p": null,
"transcript": "NM_001362862.2",
"protein_id": "NP_001349791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2071,
"cds_start": -4,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "n.91+6199_91+6200delAA",
"hgvs_p": null,
"transcript": "ENST00000466162.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "n.64+6199_64+6200delAA",
"hgvs_p": null,
"transcript": "ENST00000484220.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 646,
"mane_select": null,
"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": 51,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2412+6199_2412+6200delAA",
"hgvs_p": null,
"transcript": "XM_047441408.1",
"protein_id": "XP_047297364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1983,
"cds_start": -4,
"cds_end": null,
"cds_length": 5952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5980,
"mane_select": null,
"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": 48,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2412+6199_2412+6200delAA",
"hgvs_p": null,
"transcript": "XM_005261635.2",
"protein_id": "XP_005261692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1854,
"cds_start": -4,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5923,
"mane_select": null,
"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": 36,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2412+6199_2412+6200delAA",
"hgvs_p": null,
"transcript": "XM_011530226.2",
"protein_id": "XP_011528528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1416,
"cds_start": -4,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"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": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2412+6199_2412+6200delAA",
"hgvs_p": null,
"transcript": "XM_047441409.1",
"protein_id": "XP_047297365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1286,
"cds_start": -4,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"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": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2412+6199_2412+6200delAA",
"hgvs_p": null,
"transcript": "XM_011530228.3",
"protein_id": "XP_011528530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1277,
"cds_start": -4,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPIND1",
"gene_hgnc_id": 4838,
"dbsnp": "rs587777760",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.835,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000215727.10",
"gene_symbol": "SERPIND1",
"hgnc_id": 4838,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1429_1430delTT",
"hgvs_p": "p.Phe477fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000255882.11",
"gene_symbol": "PI4KA",
"hgnc_id": 8983,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2328+6199_2328+6200delAA",
"hgvs_p": null
}
],
"clinvar_disease": "Heparin cofactor II deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Heparin cofactor II deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}