← Back to variant description
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: 3-183152449-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183152449&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183152449,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014398.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP3",
"gene_hgnc_id": 14582,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Gly272Arg",
"transcript": "NM_014398.4",
"protein_id": "NP_055213.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 416,
"cds_start": 814,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 3196,
"mane_select": "ENST00000265598.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP3",
"gene_hgnc_id": 14582,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Gly272Arg",
"transcript": "ENST00000265598.8",
"protein_id": "ENSP00000265598.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 416,
"cds_start": 814,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 3196,
"mane_select": "NM_014398.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP3",
"gene_hgnc_id": 14582,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Gly248Arg",
"transcript": "ENST00000466939.1",
"protein_id": "ENSP00000418912.1",
"transcript_support_level": 2,
"aa_start": 248,
"aa_end": null,
"aa_length": 392,
"cds_start": 742,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP3",
"gene_hgnc_id": 14582,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Gly272Arg",
"transcript": "XM_005247360.6",
"protein_id": "XP_005247417.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 418,
"cds_start": 814,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 7559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP3",
"gene_hgnc_id": 14582,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Gly272Arg",
"transcript": "XM_047447967.1",
"protein_id": "XP_047303923.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 376,
"cds_start": 814,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMP3",
"gene_hgnc_id": 14582,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Gly272Arg",
"transcript": "XM_011512688.3",
"protein_id": "XP_011510990.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 354,
"cds_start": 814,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LAMP3",
"gene_hgnc_id": 14582,
"dbsnp": "rs148986218",
"frequency_reference_population": 0.0000068456297,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684563,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9309448003768921,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.652,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9459,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.148,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014398.4",
"gene_symbol": "LAMP3",
"hgnc_id": 14582,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Gly272Arg"
}
],
"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
}