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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: 14-23102441-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23102441&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23102441,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001354640.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Trp346*",
"transcript": "NM_001354640.2",
"protein_id": "NP_001341569.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 788,
"cds_start": 1037,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000637218.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354640.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Trp346*",
"transcript": "ENST00000637218.2",
"protein_id": "ENSP00000489869.1",
"transcript_support_level": 5,
"aa_start": 346,
"aa_end": null,
"aa_length": 788,
"cds_start": 1037,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001354640.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637218.2"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Trp291*",
"transcript": "NM_001402427.1",
"protein_id": "NP_001389356.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 733,
"cds_start": 872,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001402427.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Trp288*",
"transcript": "ENST00000644000.1",
"protein_id": "ENSP00000493582.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 730,
"cds_start": 863,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644000.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Trp263*",
"transcript": "ENST00000642668.1",
"protein_id": "ENSP00000495729.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 614,
"cds_start": 788,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642668.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Trp249*",
"transcript": "ENST00000940842.1",
"protein_id": "ENSP00000610901.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 600,
"cds_start": 746,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "n.794G>A",
"hgvs_p": null,
"transcript": "ENST00000644147.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000644147.1"
}
],
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"dbsnp": "rs1014082266",
"frequency_reference_population": 0.0000071137924,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000726438,
"gnomad_genomes_af": 0.00000656909,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.27000001072883606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.769,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001354640.2",
"gene_symbol": "CIROP",
"hgnc_id": 53647,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Trp346*"
}
],
"clinvar_disease": " 12, autosomal, visceral,Heterotaxy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Heterotaxy, visceral, 12, autosomal",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}