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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: 5-132556665-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132556665&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132556665,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000638452.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-168-2619C>T",
"hgvs_p": null,
"transcript": "ENST00000638452.2",
"protein_id": "ENSP00000492349.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": -4,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAD50",
"gene_hgnc_id": 9816,
"hgvs_c": "c.-169+192C>T",
"hgvs_p": null,
"transcript": "ENST00000416135.5",
"protein_id": "ENSP00000389515.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-169+192C>T",
"hgvs_p": null,
"transcript": "ENST00000638568.2",
"protein_id": "ENSP00000491158.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": -4,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-168-2619C>T",
"hgvs_p": null,
"transcript": "ENST00000640655.2",
"protein_id": "ENSP00000491596.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": -4,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL5",
"gene_hgnc_id": 6016,
"hgvs_c": "c.42+9G>A",
"hgvs_p": null,
"transcript": "ENST00000450655.1",
"protein_id": "ENSP00000409825.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": -4,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "n.207-2619C>T",
"hgvs_p": null,
"transcript": "ENST00000638504.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "n.290-2619C>T",
"hgvs_p": null,
"transcript": "ENST00000639899.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL5",
"gene_hgnc_id": 6016,
"hgvs_c": "c.42+9G>A",
"hgvs_p": null,
"transcript": "XM_005271988.5",
"protein_id": "XP_005272045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL5",
"gene_hgnc_id": 6016,
"hgvs_c": "c.-127+9G>A",
"hgvs_p": null,
"transcript": "XM_011543373.4",
"protein_id": "XP_011541675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL5",
"gene_hgnc_id": 6016,
"hgvs_c": "c.42+9G>A",
"hgvs_p": null,
"transcript": "XM_047417148.1",
"protein_id": "XP_047273104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": -4,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"dbsnp": "rs2706335",
"frequency_reference_population": 0.99444264,
"hom_count_reference_population": 611838,
"allele_count_reference_population": 1229861,
"gnomad_exomes_af": 0.997563,
"gnomad_genomes_af": 0.972227,
"gnomad_exomes_ac": 1081785,
"gnomad_genomes_ac": 148076,
"gnomad_exomes_homalt": 539710,
"gnomad_genomes_homalt": 72128,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.931,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000638452.2",
"gene_symbol": "ENSG00000283782",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-168-2619C>T",
"hgvs_p": null
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000416135.5",
"gene_symbol": "RAD50",
"hgnc_id": 9816,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-169+192C>T",
"hgvs_p": null
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000450655.1",
"gene_symbol": "IL5",
"hgnc_id": 6016,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.42+9G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}