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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: 19-50791780-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50791780&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50791780,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033068.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP4",
"gene_hgnc_id": 14376,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Thr143Arg",
"transcript": "NM_033068.3",
"protein_id": "NP_149059.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 426,
"cds_start": 428,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270593.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033068.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACP4",
"gene_hgnc_id": 14376,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Thr143Arg",
"transcript": "ENST00000270593.2",
"protein_id": "ENSP00000270593.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 426,
"cds_start": 428,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033068.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270593.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMIM47",
"gene_hgnc_id": 53452,
"hgvs_c": "c.-60+625G>C",
"hgvs_p": null,
"transcript": "ENST00000636757.1",
"protein_id": "ENSP00000489695.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": null,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105372439",
"gene_hgnc_id": null,
"hgvs_c": "n.434+625G>C",
"hgvs_p": null,
"transcript": "XR_936026.3",
"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": "pseudogene",
"feature": "XR_936026.3"
}
],
"gene_symbol": "ACP4",
"gene_hgnc_id": 14376,
"dbsnp": "rs546603773",
"frequency_reference_population": 0.0000055889163,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000548655,
"gnomad_genomes_af": 0.00000656944,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9590119123458862,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.494,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8523,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.461,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 1,
"pathogenic_score": 6,
"criteria": [
"PM5",
"PP3_Strong",
"BS2_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033068.3",
"gene_symbol": "ACP4",
"hgnc_id": 14376,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Thr143Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_936026.3",
"gene_symbol": "LOC105372439",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.434+625G>C",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000636757.1",
"gene_symbol": "SMIM47",
"hgnc_id": 53452,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-60+625G>C",
"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
}