← Back to variant description
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: 3-179198867-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179198867&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 179198867,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006218.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CA",
"gene_hgnc_id": 8975,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.His14His",
"transcript": "NM_006218.4",
"protein_id": "NP_006209.2",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1068,
"cds_start": 42,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 9259,
"mane_select": "ENST00000263967.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CA",
"gene_hgnc_id": 8975,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.His14His",
"transcript": "ENST00000263967.4",
"protein_id": "ENSP00000263967.3",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 1068,
"cds_start": 42,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 9259,
"mane_select": "NM_006218.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CA",
"gene_hgnc_id": 8975,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.His14His",
"transcript": "ENST00000643187.1",
"protein_id": "ENSP00000493507.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1000,
"cds_start": 42,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CA",
"gene_hgnc_id": 8975,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.His14His",
"transcript": "ENST00000468036.1",
"protein_id": "ENSP00000417479.1",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 117,
"cds_start": 42,
"cds_end": null,
"cds_length": 354,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CA",
"gene_hgnc_id": 8975,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.His14His",
"transcript": "ENST00000477735.1",
"protein_id": "ENSP00000418145.1",
"transcript_support_level": 4,
"aa_start": 14,
"aa_end": null,
"aa_length": 20,
"cds_start": 42,
"cds_end": null,
"cds_length": 63,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CA",
"gene_hgnc_id": 8975,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.His14His",
"transcript": "XM_006713658.5",
"protein_id": "XP_006713721.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 1068,
"cds_start": 42,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 9106,
"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": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CA",
"gene_hgnc_id": 8975,
"hgvs_c": "n.2849C>T",
"hgvs_p": null,
"transcript": "ENST00000675467.1",
"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": 7021,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CA",
"gene_hgnc_id": 8975,
"hgvs_c": "n.42C>T",
"hgvs_p": null,
"transcript": "ENST00000675786.1",
"protein_id": "ENSP00000502323.1",
"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": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIK3CA",
"gene_hgnc_id": 8975,
"dbsnp": "rs766833890",
"frequency_reference_population": 0.000020819138,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000216349,
"gnomad_genomes_af": 0.0000131399,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.139,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006218.4",
"gene_symbol": "PIK3CA",
"hgnc_id": 8975,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.42C>T",
"hgvs_p": "p.His14His"
}
],
"clinvar_disease": "Cowden syndrome,Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Inborn genetic diseases|Cowden syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}