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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: 1-115702950-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=115702950&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 115702950,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261448.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Pro329Ser",
"transcript": "NM_001232.4",
"protein_id": "NP_001223.2",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 399,
"cds_start": 985,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": "ENST00000261448.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Pro329Ser",
"transcript": "ENST00000261448.6",
"protein_id": "ENSP00000261448.5",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 399,
"cds_start": 985,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": "NM_001232.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.1126C>T",
"hgvs_p": "p.Pro376Ser",
"transcript": "ENST00000713711.1",
"protein_id": "ENSP00000519014.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 446,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Pro237Ser",
"transcript": "ENST00000713728.1",
"protein_id": "ENSP00000519032.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 307,
"cds_start": 709,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "ENST00000850611.1",
"protein_id": "ENSP00000520899.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 189,
"cds_start": 355,
"cds_end": null,
"cds_length": 570,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.*357C>T",
"hgvs_p": null,
"transcript": "ENST00000488931.2",
"protein_id": "ENSP00000518226.1",
"transcript_support_level": 3,
"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": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.*616C>T",
"hgvs_p": null,
"transcript": "ENST00000713712.1",
"protein_id": "ENSP00000519015.1",
"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": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.*2443C>T",
"hgvs_p": null,
"transcript": "ENST00000713727.1",
"protein_id": "ENSP00000519031.1",
"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": 4984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.*467C>T",
"hgvs_p": null,
"transcript": "ENST00000713729.1",
"protein_id": "ENSP00000519033.1",
"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": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.*357C>T",
"hgvs_p": null,
"transcript": "ENST00000488931.2",
"protein_id": "ENSP00000518226.1",
"transcript_support_level": 3,
"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": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.*616C>T",
"hgvs_p": null,
"transcript": "ENST00000713712.1",
"protein_id": "ENSP00000519015.1",
"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": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.*2443C>T",
"hgvs_p": null,
"transcript": "ENST00000713727.1",
"protein_id": "ENSP00000519031.1",
"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": 4984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.*467C>T",
"hgvs_p": null,
"transcript": "ENST00000713729.1",
"protein_id": "ENSP00000519033.1",
"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": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"dbsnp": "rs28730713",
"frequency_reference_population": 0.00022371142,
"hom_count_reference_population": 0,
"allele_count_reference_population": 361,
"gnomad_exomes_af": 0.000223078,
"gnomad_genomes_af": 0.000229788,
"gnomad_exomes_ac": 326,
"gnomad_genomes_ac": 35,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6639550924301147,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.741,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9489,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.594,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261448.6",
"gene_symbol": "CASQ2",
"hgnc_id": 1513,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Pro329Ser"
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:11",
"phenotype_combined": "not provided|Cardiovascular phenotype|Catecholaminergic polymorphic ventricular tachycardia 2|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}