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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: 8-96834991-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=96834991&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 96834991,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016134.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "NM_016134.4",
"protein_id": "NP_057218.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 472,
"cds_start": 452,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220763.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016134.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000220763.10",
"protein_id": "ENSP00000220763.5",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 472,
"cds_start": 452,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016134.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220763.10"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000960277.1",
"protein_id": "ENSP00000630336.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 515,
"cds_start": 452,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960277.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000863818.1",
"protein_id": "ENSP00000533877.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 513,
"cds_start": 452,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863818.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000863815.1",
"protein_id": "ENSP00000533874.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 472,
"cds_start": 452,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863815.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000863816.1",
"protein_id": "ENSP00000533875.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 472,
"cds_start": 452,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863816.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000863819.1",
"protein_id": "ENSP00000533878.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 472,
"cds_start": 452,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863819.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000863820.1",
"protein_id": "ENSP00000533879.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 472,
"cds_start": 452,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863820.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000863821.1",
"protein_id": "ENSP00000533880.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 472,
"cds_start": 452,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863821.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000960276.1",
"protein_id": "ENSP00000630335.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 472,
"cds_start": 452,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960276.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000960278.1",
"protein_id": "ENSP00000630337.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 472,
"cds_start": 452,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960278.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000863817.1",
"protein_id": "ENSP00000533876.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 471,
"cds_start": 452,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863817.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000960279.1",
"protein_id": "ENSP00000630338.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 390,
"cds_start": 452,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960279.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro",
"transcript": "ENST00000517742.1",
"protein_id": "ENSP00000429146.1",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 185,
"cds_start": 452,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517742.1"
}
],
"gene_symbol": "CPQ",
"gene_hgnc_id": 16910,
"dbsnp": "rs148279743",
"frequency_reference_population": 0.0005293819,
"hom_count_reference_population": 7,
"allele_count_reference_population": 854,
"gnomad_exomes_af": 0.000288184,
"gnomad_genomes_af": 0.00284255,
"gnomad_exomes_ac": 421,
"gnomad_genomes_ac": 433,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01152828335762024,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.518,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8442,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.3,
"phylop100way_prediction": "Uncertain_significance",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016134.4",
"gene_symbol": "CPQ",
"hgnc_id": 16910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.452T>C",
"hgvs_p": "p.Leu151Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}