← 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: 1-229635985-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=229635985&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 229635985,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_014777.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB2",
"gene_hgnc_id": 28967,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "NM_014777.4",
"protein_id": "NP_055592.2",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 1524,
"cds_start": 1372,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258243.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014777.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB2",
"gene_hgnc_id": 28967,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000258243.7",
"protein_id": "ENSP00000258243.2",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 1524,
"cds_start": 1372,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014777.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258243.7"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB2",
"gene_hgnc_id": 28967,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "NM_001314021.2",
"protein_id": "NP_001300950.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 1524,
"cds_start": 1372,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314021.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB2",
"gene_hgnc_id": 28967,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000869045.1",
"protein_id": "ENSP00000539104.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 1524,
"cds_start": 1372,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869045.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB2",
"gene_hgnc_id": 28967,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000922773.1",
"protein_id": "ENSP00000592832.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 1524,
"cds_start": 1372,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922773.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB2",
"gene_hgnc_id": 28967,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000922772.1",
"protein_id": "ENSP00000592831.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 1521,
"cds_start": 1372,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922772.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB2",
"gene_hgnc_id": 28967,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000922771.1",
"protein_id": "ENSP00000592830.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 1487,
"cds_start": 1372,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922771.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB2",
"gene_hgnc_id": 28967,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "ENST00000944234.1",
"protein_id": "ENSP00000614293.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 1487,
"cds_start": 1372,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944234.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "URB2",
"gene_hgnc_id": 28967,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*",
"transcript": "XM_005273360.3",
"protein_id": "XP_005273417.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 1487,
"cds_start": 1372,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273360.3"
}
],
"gene_symbol": "URB2",
"gene_hgnc_id": 28967,
"dbsnp": "rs193921013",
"frequency_reference_population": 0.0000012392172,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84143e-7,
"gnomad_genomes_af": 0.00000656858,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.550000011920929,
"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": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.39,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014777.4",
"gene_symbol": "URB2",
"hgnc_id": 28967,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Gln458*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}