← 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: X-75274636-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=75274636&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 75274636,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_145052.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Asp128His",
"transcript": "NM_145052.4",
"protein_id": "NP_659489.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 309,
"cds_start": 382,
"cds_end": null,
"cds_length": 930,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": "ENST00000373383.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145052.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Asp128His",
"transcript": "ENST00000373383.9",
"protein_id": "ENSP00000362481.4",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 309,
"cds_start": 382,
"cds_end": null,
"cds_length": 930,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": "NM_145052.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373383.9"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "n.382G>C",
"hgvs_p": null,
"transcript": "ENST00000462237.5",
"protein_id": "ENSP00000433987.1",
"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": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000462237.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "n.552G>C",
"hgvs_p": null,
"transcript": "ENST00000531704.5",
"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": 970,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000531704.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Asp128His",
"transcript": "ENST00000966884.1",
"protein_id": "ENSP00000636943.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 288,
"cds_start": 382,
"cds_end": null,
"cds_length": 867,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966884.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Asp128His",
"transcript": "NM_001307944.1",
"protein_id": "NP_001294873.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 281,
"cds_start": 382,
"cds_end": null,
"cds_length": 846,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307944.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Asp128His",
"transcript": "ENST00000373379.5",
"protein_id": "ENSP00000362477.1",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 281,
"cds_start": 382,
"cds_end": null,
"cds_length": 846,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373379.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Asp128His",
"transcript": "ENST00000924922.1",
"protein_id": "ENSP00000594981.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 255,
"cds_start": 382,
"cds_end": null,
"cds_length": 768,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924922.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Asp128His",
"transcript": "XM_011530867.4",
"protein_id": "XP_011529169.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 171,
"cds_start": 382,
"cds_end": null,
"cds_length": 516,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530867.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.-22-18836G>C",
"hgvs_p": null,
"transcript": "NM_001363821.1",
"protein_id": "NP_001350750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363821.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.-446-16388G>C",
"hgvs_p": null,
"transcript": "ENST00000652605.1",
"protein_id": "ENSP00000498525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652605.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "n.382G>C",
"hgvs_p": null,
"transcript": "ENST00000373373.8",
"protein_id": "ENSP00000362471.4",
"transcript_support_level": 3,
"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": 725,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000373373.8"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "n.578G>C",
"hgvs_p": null,
"transcript": "NR_030774.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_030774.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.-145G>C",
"hgvs_p": null,
"transcript": "ENST00000530743.1",
"protein_id": "ENSP00000434037.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530743.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"hgvs_c": "c.-145G>C",
"hgvs_p": null,
"transcript": "XM_047441832.1",
"protein_id": "XP_047297788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441832.1"
}
],
"gene_symbol": "UPRT",
"gene_hgnc_id": 28334,
"dbsnp": "rs771975802",
"frequency_reference_population": 9.279296e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.2793e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9032725095748901,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.905,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.96,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.64,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.463,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145052.4",
"gene_symbol": "UPRT",
"hgnc_id": 28334,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.382G>C",
"hgvs_p": "p.Asp128His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}