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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: 16-30902280-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30902280&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30902280,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000279804.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTF1",
"gene_hgnc_id": 2499,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Pro116Leu",
"transcript": "NM_001330.5",
"protein_id": "NP_001321.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 201,
"cds_start": 347,
"cds_end": null,
"cds_length": 606,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "ENST00000279804.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTF1",
"gene_hgnc_id": 2499,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Pro116Leu",
"transcript": "ENST00000279804.3",
"protein_id": "ENSP00000279804.2",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 201,
"cds_start": 347,
"cds_end": null,
"cds_length": 606,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "NM_001330.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTF1",
"gene_hgnc_id": 2499,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "ENST00000395019.3",
"protein_id": "ENSP00000378465.3",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 200,
"cds_start": 344,
"cds_end": null,
"cds_length": 603,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTF1",
"gene_hgnc_id": 2499,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Pro115Leu",
"transcript": "NM_001142544.3",
"protein_id": "NP_001136016.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 200,
"cds_start": 344,
"cds_end": null,
"cds_length": 603,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTF1",
"gene_hgnc_id": 2499,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "XM_011545759.3",
"protein_id": "XP_011544061.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 223,
"cds_start": 413,
"cds_end": null,
"cds_length": 672,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTF1",
"gene_hgnc_id": 2499,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Pro124Leu",
"transcript": "XM_011545760.3",
"protein_id": "XP_011544062.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 209,
"cds_start": 371,
"cds_end": null,
"cds_length": 630,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTF1",
"gene_hgnc_id": 2499,
"hgvs_c": "n.485C>T",
"hgvs_p": null,
"transcript": "NR_165660.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CTF1",
"gene_hgnc_id": 2499,
"dbsnp": "rs886051924",
"frequency_reference_population": 0.0000038785624,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000226156,
"gnomad_genomes_af": 0.0000136088,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.039742887020111084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": 0.1194,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.686,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000279804.3",
"gene_symbol": "CTF1",
"hgnc_id": 2499,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Pro116Leu"
}
],
"clinvar_disease": " Dominant,Dilated Cardiomyopathy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Dilated Cardiomyopathy, Dominant",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}