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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: 15-40623048-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40623048&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40623048,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_170589.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"hgvs_c": "c.2784T>C",
"hgvs_p": "p.Thr928Thr",
"transcript": "NM_144508.5",
"protein_id": "NP_653091.3",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 2316,
"cds_start": 2784,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 2945,
"cdna_end": null,
"cdna_length": 9266,
"mane_select": "ENST00000399668.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144508.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"hgvs_c": "c.2784T>C",
"hgvs_p": "p.Thr928Thr",
"transcript": "ENST00000399668.7",
"protein_id": "ENSP00000382576.3",
"transcript_support_level": 1,
"aa_start": 928,
"aa_end": null,
"aa_length": 2316,
"cds_start": 2784,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 2945,
"cdna_end": null,
"cdna_length": 9266,
"mane_select": "NM_144508.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399668.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"hgvs_c": "c.2862T>C",
"hgvs_p": "p.Thr954Thr",
"transcript": "ENST00000346991.9",
"protein_id": "ENSP00000335463.6",
"transcript_support_level": 1,
"aa_start": 954,
"aa_end": null,
"aa_length": 2342,
"cds_start": 2862,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 3252,
"cdna_end": null,
"cdna_length": 9573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346991.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"hgvs_c": "n.2929T>C",
"hgvs_p": null,
"transcript": "ENST00000533001.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 5923,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000533001.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"hgvs_c": "n.3100T>C",
"hgvs_p": null,
"transcript": "ENST00000614337.4",
"protein_id": null,
"transcript_support_level": 1,
"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": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000614337.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"hgvs_c": "c.2862T>C",
"hgvs_p": "p.Thr954Thr",
"transcript": "NM_170589.5",
"protein_id": "NP_733468.3",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 2342,
"cds_start": 2862,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 3023,
"cdna_end": null,
"cdna_length": 9344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170589.5"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"hgvs_c": "n.116-6276T>C",
"hgvs_p": null,
"transcript": "ENST00000534204.1",
"protein_id": "ENSP00000453857.1",
"transcript_support_level": 4,
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534204.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"hgvs_c": "n.-85T>C",
"hgvs_p": null,
"transcript": "ENST00000526913.5",
"protein_id": "ENSP00000432565.1",
"transcript_support_level": 1,
"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": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526913.5"
}
],
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"dbsnp": "rs587780293",
"frequency_reference_population": 0.0000061570877,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615709,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.057,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_170589.5",
"gene_symbol": "KNL1",
"hgnc_id": 24054,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2862T>C",
"hgvs_p": "p.Thr954Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}