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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: 15-65201874-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65201874&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 65201874,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_003613.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Ile395Thr",
"transcript": "NM_003613.4",
"protein_id": "NP_003604.4",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1184,
"cds_start": 1184,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261883.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003613.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Ile395Thr",
"transcript": "ENST00000261883.6",
"protein_id": "ENSP00000261883.4",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 1184,
"cds_start": 1184,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003613.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261883.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.1190T>C",
"hgvs_p": "p.Ile397Thr",
"transcript": "ENST00000888802.1",
"protein_id": "ENSP00000558861.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 1186,
"cds_start": 1190,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888802.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Ile395Thr",
"transcript": "ENST00000941157.1",
"protein_id": "ENSP00000611216.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1184,
"cds_start": 1184,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941157.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.1070T>C",
"hgvs_p": "p.Ile357Thr",
"transcript": "ENST00000888803.1",
"protein_id": "ENSP00000558862.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 1146,
"cds_start": 1070,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888803.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.1004T>C",
"hgvs_p": "p.Ile335Thr",
"transcript": "ENST00000941156.1",
"protein_id": "ENSP00000611215.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1124,
"cds_start": 1004,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941156.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.1112T>C",
"hgvs_p": "p.Ile371Thr",
"transcript": "XM_017022679.2",
"protein_id": "XP_016878168.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 1160,
"cds_start": 1112,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022679.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299580",
"gene_hgnc_id": null,
"hgvs_c": "n.195+12345A>G",
"hgvs_p": null,
"transcript": "ENST00000764760.1",
"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": "pseudogene",
"feature": "ENST00000764760.1"
}
],
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"dbsnp": "rs2073711",
"frequency_reference_population": 0.6029327,
"hom_count_reference_population": 285531,
"allele_count_reference_population": 925000,
"gnomad_exomes_af": 0.602727,
"gnomad_genomes_af": 0.604806,
"gnomad_exomes_ac": 833067,
"gnomad_genomes_ac": 91933,
"gnomad_exomes_homalt": 257024,
"gnomad_genomes_homalt": 28507,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00001767998946888838,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.131,
"revel_prediction": "Benign",
"alphamissense_score": 0.0794,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.12,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000226416629470783,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003613.4",
"gene_symbol": "CILP",
"hgnc_id": 1980,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Ile395Thr"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000764760.1",
"gene_symbol": "ENSG00000299580",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.195+12345A>G",
"hgvs_p": null
}
],
"clinvar_disease": " susceptibility to,CILP-related disorder,Lumbar disc disease",
"clinvar_classification": " risk factor,Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Lumbar disc disease, susceptibility to|CILP-related disorder",
"pathogenicity_classification_combined": "Benign; risk factor",
"custom_annotations": null
}
],
"message": null
}