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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: 11-17089857-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17089857&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17089857,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002645.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4942A>G",
"hgvs_p": "p.Ser1648Gly",
"transcript": "NM_002645.4",
"protein_id": "NP_002636.2",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1686,
"cds_start": 4942,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000691414.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002645.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4942A>G",
"hgvs_p": "p.Ser1648Gly",
"transcript": "ENST00000691414.1",
"protein_id": "ENSP00000509400.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1686,
"cds_start": 4942,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002645.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691414.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4942A>G",
"hgvs_p": "p.Ser1648Gly",
"transcript": "ENST00000265970.11",
"protein_id": "ENSP00000265970.6",
"transcript_support_level": 1,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1686,
"cds_start": 4942,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265970.11"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "n.1400+1477A>G",
"hgvs_p": null,
"transcript": "ENST00000531428.1",
"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": "pseudogene",
"feature": "ENST00000531428.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4942A>G",
"hgvs_p": "p.Ser1648Gly",
"transcript": "NM_001321378.2",
"protein_id": "NP_001308307.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1686,
"cds_start": 4942,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321378.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4843A>G",
"hgvs_p": "p.Ser1615Gly",
"transcript": "ENST00000891469.1",
"protein_id": "ENSP00000561528.1",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1653,
"cds_start": 4843,
"cds_end": null,
"cds_length": 4962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891469.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4837A>G",
"hgvs_p": "p.Ser1613Gly",
"transcript": "ENST00000928047.1",
"protein_id": "ENSP00000598106.1",
"transcript_support_level": null,
"aa_start": 1613,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4837,
"cds_end": null,
"cds_length": 4956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928047.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4819A>G",
"hgvs_p": "p.Ser1607Gly",
"transcript": "ENST00000891470.1",
"protein_id": "ENSP00000561529.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4819,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891470.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4798A>G",
"hgvs_p": "p.Ser1600Gly",
"transcript": "ENST00000963734.1",
"protein_id": "ENSP00000633793.1",
"transcript_support_level": null,
"aa_start": 1600,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4798,
"cds_end": null,
"cds_length": 4917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963734.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4774A>G",
"hgvs_p": "p.Ser1592Gly",
"transcript": "NM_001386870.1",
"protein_id": "NP_001373799.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1630,
"cds_start": 4774,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386870.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4774A>G",
"hgvs_p": "p.Ser1592Gly",
"transcript": "ENST00000891471.1",
"protein_id": "ENSP00000561530.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1630,
"cds_start": 4774,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891471.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4774A>G",
"hgvs_p": "p.Ser1592Gly",
"transcript": "ENST00000928049.1",
"protein_id": "ENSP00000598108.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1630,
"cds_start": 4774,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928049.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4465A>G",
"hgvs_p": "p.Ser1489Gly",
"transcript": "ENST00000928048.1",
"protein_id": "ENSP00000598107.1",
"transcript_support_level": null,
"aa_start": 1489,
"aa_end": null,
"aa_length": 1527,
"cds_start": 4465,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928048.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.3802A>G",
"hgvs_p": "p.Ser1268Gly",
"transcript": "NM_001321380.2",
"protein_id": "NP_001308309.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1306,
"cds_start": 3802,
"cds_end": null,
"cds_length": 3921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321380.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4942A>G",
"hgvs_p": "p.Ser1648Gly",
"transcript": "XM_047427127.1",
"protein_id": "XP_047283083.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
"aa_length": 1686,
"cds_start": 4942,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427127.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"hgvs_c": "c.4774A>G",
"hgvs_p": "p.Ser1592Gly",
"transcript": "XM_047427128.1",
"protein_id": "XP_047283084.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1630,
"cds_start": 4774,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427128.1"
}
],
"gene_symbol": "PIK3C2A",
"gene_hgnc_id": 8971,
"dbsnp": "rs1420637134",
"frequency_reference_population": 0.0000013688092,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136881,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.828459620475769,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.391,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3138,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.971,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002645.4",
"gene_symbol": "PIK3C2A",
"hgnc_id": 8971,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4942A>G",
"hgvs_p": "p.Ser1648Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}