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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: 11-66276114-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66276114&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66276114,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_030981.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB1B",
"gene_hgnc_id": 18370,
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Ala161Val",
"transcript": "NM_030981.3",
"protein_id": "NP_112243.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 201,
"cds_start": 482,
"cds_end": null,
"cds_length": 606,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": "ENST00000311481.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030981.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB1B",
"gene_hgnc_id": 18370,
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Ala161Val",
"transcript": "ENST00000311481.11",
"protein_id": "ENSP00000310226.6",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 201,
"cds_start": 482,
"cds_end": null,
"cds_length": 606,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": "NM_030981.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311481.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB1B",
"gene_hgnc_id": 18370,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "ENST00000884282.1",
"protein_id": "ENSP00000554341.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 249,
"cds_start": 626,
"cds_end": null,
"cds_length": 750,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884282.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB1B",
"gene_hgnc_id": 18370,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "ENST00000884284.1",
"protein_id": "ENSP00000554343.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 200,
"cds_start": 479,
"cds_end": null,
"cds_length": 603,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884284.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB1B",
"gene_hgnc_id": 18370,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ala153Val",
"transcript": "ENST00000884283.1",
"protein_id": "ENSP00000554342.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 193,
"cds_start": 458,
"cds_end": null,
"cds_length": 582,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884283.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB1B",
"gene_hgnc_id": 18370,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Ala129Val",
"transcript": "ENST00000527397.1",
"protein_id": "ENSP00000435195.1",
"transcript_support_level": 3,
"aa_start": 129,
"aa_end": null,
"aa_length": 169,
"cds_start": 386,
"cds_end": null,
"cds_length": 510,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527397.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000245156",
"gene_hgnc_id": null,
"hgvs_c": "n.31+2381G>A",
"hgvs_p": null,
"transcript": "ENST00000501708.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000501708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107984340",
"gene_hgnc_id": null,
"hgvs_c": "n.31+2381G>A",
"hgvs_p": null,
"transcript": "XR_001748274.1",
"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": 467,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001748274.1"
}
],
"gene_symbol": "RAB1B",
"gene_hgnc_id": 18370,
"dbsnp": "rs769789504",
"frequency_reference_population": 0.000029124023,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000307888,
"gnomad_genomes_af": 0.0000131392,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.437380313873291,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.596,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7484,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.056,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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_030981.3",
"gene_symbol": "RAB1B",
"hgnc_id": 18370,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Ala161Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000501708.1",
"gene_symbol": "ENSG00000245156",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.31+2381G>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001748274.1",
"gene_symbol": "LOC107984340",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.31+2381G>A",
"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
}