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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: 15-65197231-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65197231&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 65197231,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003613.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.3055C>G",
"hgvs_p": "p.Arg1019Gly",
"transcript": "NM_003613.4",
"protein_id": "NP_003604.4",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3055,
"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": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.3055C>G",
"hgvs_p": "p.Arg1019Gly",
"transcript": "ENST00000261883.6",
"protein_id": "ENSP00000261883.4",
"transcript_support_level": 1,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3055,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.3061C>G",
"hgvs_p": "p.Arg1021Gly",
"transcript": "ENST00000888802.1",
"protein_id": "ENSP00000558861.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3061,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.3055C>G",
"hgvs_p": "p.Arg1019Gly",
"transcript": "ENST00000941157.1",
"protein_id": "ENSP00000611216.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3055,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.2941C>G",
"hgvs_p": "p.Arg981Gly",
"transcript": "ENST00000888803.1",
"protein_id": "ENSP00000558862.1",
"transcript_support_level": null,
"aa_start": 981,
"aa_end": null,
"aa_length": 1146,
"cds_start": 2941,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.2875C>G",
"hgvs_p": "p.Arg959Gly",
"transcript": "ENST00000941156.1",
"protein_id": "ENSP00000611215.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2875,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CILP",
"gene_hgnc_id": 1980,
"hgvs_c": "c.2983C>G",
"hgvs_p": "p.Arg995Gly",
"transcript": "XM_017022679.2",
"protein_id": "XP_016878168.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2983,
"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+7702G>C",
"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": "rs146484784",
"frequency_reference_population": 0.00000495682,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478862,
"gnomad_genomes_af": 0.00000657298,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6734997034072876,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.292,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2627,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.808,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003613.4",
"gene_symbol": "CILP",
"hgnc_id": 1980,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3055C>G",
"hgvs_p": "p.Arg1019Gly"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000764760.1",
"gene_symbol": "ENSG00000299580",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.195+7702G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}