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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: 11-34995002-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=34995002&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 34995002,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000227868.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHX",
"gene_hgnc_id": 21350,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446*",
"transcript": "NM_003477.3",
"protein_id": "NP_003468.2",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 501,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": "ENST00000227868.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHX",
"gene_hgnc_id": 21350,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446*",
"transcript": "ENST00000227868.9",
"protein_id": "ENSP00000227868.4",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 501,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": "NM_003477.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHX",
"gene_hgnc_id": 21350,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"transcript": "NM_001135024.2",
"protein_id": "NP_001128496.2",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 441,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHX",
"gene_hgnc_id": 21350,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"transcript": "ENST00000448838.8",
"protein_id": "ENSP00000389404.3",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 441,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHX",
"gene_hgnc_id": 21350,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219*",
"transcript": "NM_001166158.2",
"protein_id": "NP_001159630.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 274,
"cds_start": 655,
"cds_end": null,
"cds_length": 825,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHX",
"gene_hgnc_id": 21350,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219*",
"transcript": "ENST00000430469.6",
"protein_id": "ENSP00000415695.2",
"transcript_support_level": 2,
"aa_start": 219,
"aa_end": null,
"aa_length": 274,
"cds_start": 655,
"cds_end": null,
"cds_length": 825,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHX",
"gene_hgnc_id": 21350,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Arg133*",
"transcript": "ENST00000526309.1",
"protein_id": "ENSP00000433204.1",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 188,
"cds_start": 397,
"cds_end": null,
"cds_length": 567,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDHX",
"gene_hgnc_id": 21350,
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Arg386*",
"transcript": "XM_011520390.2",
"protein_id": "XP_011518692.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 441,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDHX",
"gene_hgnc_id": 21350,
"hgvs_c": "n.161+2623C>T",
"hgvs_p": null,
"transcript": "ENST00000477173.3",
"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": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDHX",
"gene_hgnc_id": 21350,
"dbsnp": "rs1135402725",
"frequency_reference_population": 0.0000034205716,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342057,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"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": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.72,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000227868.9",
"gene_symbol": "PDHX",
"hgnc_id": 21350,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446*"
}
],
"clinvar_disease": "Pyruvate dehydrogenase E3-binding protein deficiency,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:1",
"phenotype_combined": "Pyruvate dehydrogenase E3-binding protein deficiency|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}