← 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: 2-233681597-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233681597&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233681597,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_019075.4",
"consequences": [
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UGT1A10",
"gene_hgnc_id": 12531,
"hgvs_c": "c.855+44220C>T",
"hgvs_p": null,
"transcript": "NM_019075.4",
"protein_id": "NP_061948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344644.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019075.4"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UGT1A8",
"gene_hgnc_id": 12540,
"hgvs_c": "c.855+63035C>T",
"hgvs_p": null,
"transcript": "NM_019076.5",
"protein_id": "NP_061949.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373450.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019076.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UGT1A9",
"gene_hgnc_id": 12541,
"hgvs_c": "c.855+8808C>T",
"hgvs_p": null,
"transcript": "NM_021027.3",
"protein_id": "NP_066307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354728.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021027.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UGT1A10",
"gene_hgnc_id": 12531,
"hgvs_c": "c.855+44220C>T",
"hgvs_p": null,
"transcript": "ENST00000344644.10",
"protein_id": "ENSP00000343838.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019075.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344644.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UGT1A9",
"gene_hgnc_id": 12541,
"hgvs_c": "c.855+8808C>T",
"hgvs_p": null,
"transcript": "ENST00000354728.5",
"protein_id": "ENSP00000346768.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021027.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354728.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UGT1A8",
"gene_hgnc_id": 12540,
"hgvs_c": "c.855+63035C>T",
"hgvs_p": null,
"transcript": "ENST00000373450.5",
"protein_id": "ENSP00000362549.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": null,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019076.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373450.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UGT1A10",
"gene_hgnc_id": 12531,
"hgvs_c": "c.855+44220C>T",
"hgvs_p": null,
"transcript": "ENST00000373445.1",
"protein_id": "ENSP00000362544.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A",
"gene_hgnc_id": 12529,
"hgvs_c": "n.233681597C>T",
"hgvs_p": null,
"transcript": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UGT1A10",
"gene_hgnc_id": 12531,
"dbsnp": "rs28946877",
"frequency_reference_population": 0.18758667,
"hom_count_reference_population": 2810,
"allele_count_reference_population": 28138,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.187587,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 28138,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2810,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.84,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_019075.4",
"gene_symbol": "UGT1A10",
"hgnc_id": 12531,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.855+44220C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_019076.5",
"gene_symbol": "UGT1A8",
"hgnc_id": 12540,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.855+63035C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_021027.3",
"gene_symbol": "UGT1A9",
"hgnc_id": 12541,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.855+8808C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "",
"gene_symbol": "UGT1A",
"hgnc_id": 12529,
"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.233681597C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}