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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: 3-126483452-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=126483452&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 126483452,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001165974.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"hgvs_c": "c.1807G>T",
"hgvs_p": "p.Gly603Trp",
"transcript": "NM_144639.3",
"protein_id": "NP_653240.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 676,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290868.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144639.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"hgvs_c": "c.1807G>T",
"hgvs_p": "p.Gly603Trp",
"transcript": "ENST00000290868.7",
"protein_id": "ENSP00000290868.2",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 676,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144639.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290868.7"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"hgvs_c": "c.1987G>T",
"hgvs_p": "p.Gly663Trp",
"transcript": "ENST00000383579.3",
"protein_id": "ENSP00000373073.3",
"transcript_support_level": 1,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383579.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"hgvs_c": "c.1987G>T",
"hgvs_p": "p.Gly663Trp",
"transcript": "NM_001165974.2",
"protein_id": "NP_001159446.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165974.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"hgvs_c": "c.1879G>T",
"hgvs_p": "p.Gly627Trp",
"transcript": "ENST00000875183.1",
"protein_id": "ENSP00000545242.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 700,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875183.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"hgvs_c": "c.1804G>T",
"hgvs_p": "p.Gly602Trp",
"transcript": "ENST00000875186.1",
"protein_id": "ENSP00000545245.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 675,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875186.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"hgvs_c": "c.1759G>T",
"hgvs_p": "p.Gly587Trp",
"transcript": "ENST00000875184.1",
"protein_id": "ENSP00000545243.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 660,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875184.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"hgvs_c": "c.1750G>T",
"hgvs_p": "p.Gly584Trp",
"transcript": "ENST00000875185.1",
"protein_id": "ENSP00000545244.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 657,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875185.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"hgvs_c": "c.1744G>T",
"hgvs_p": "p.Gly582Trp",
"transcript": "ENST00000875187.1",
"protein_id": "ENSP00000545246.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 655,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875187.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Gly543Trp",
"transcript": "ENST00000966761.1",
"protein_id": "ENSP00000636820.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 616,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966761.1"
}
],
"gene_symbol": "UROC1",
"gene_hgnc_id": 26444,
"dbsnp": "rs145069129",
"frequency_reference_population": 0.000018473918,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000184739,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9334332346916199,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.521,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.351,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_001165974.2",
"gene_symbol": "UROC1",
"hgnc_id": 26444,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1987G>T",
"hgvs_p": "p.Gly663Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}