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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: 15-40621979-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40621979&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40621979,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000399668.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1715T>C",
"hgvs_p": "p.Met572Thr",
"transcript": "NM_144508.5",
"protein_id": "NP_653091.3",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1715,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 9266,
"mane_select": "ENST00000399668.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1715T>C",
"hgvs_p": "p.Met572Thr",
"transcript": "ENST00000399668.7",
"protein_id": "ENSP00000382576.3",
"transcript_support_level": 1,
"aa_start": 572,
"aa_end": null,
"aa_length": 2316,
"cds_start": 1715,
"cds_end": null,
"cds_length": 6951,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 9266,
"mane_select": "NM_144508.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1793T>C",
"hgvs_p": "p.Met598Thr",
"transcript": "ENST00000346991.9",
"protein_id": "ENSP00000335463.6",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 2342,
"cds_start": 1793,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 9573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.1860T>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.2031T>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1793T>C",
"hgvs_p": "p.Met598Thr",
"transcript": "NM_170589.5",
"protein_id": "NP_733468.3",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 2342,
"cds_start": 1793,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 9344,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"hgvs_c": "n.116-7345T>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KNL1",
"gene_hgnc_id": 24054,
"dbsnp": "rs11858113",
"frequency_reference_population": 0.39609942,
"hom_count_reference_population": 128915,
"allele_count_reference_population": 639089,
"gnomad_exomes_af": 0.396654,
"gnomad_genomes_af": 0.390768,
"gnomad_exomes_ac": 579650,
"gnomad_genomes_ac": 59439,
"gnomad_exomes_homalt": 117110,
"gnomad_genomes_homalt": 11805,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0021754205226898193,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.1164,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.523,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000399668.7",
"gene_symbol": "KNL1",
"hgnc_id": 24054,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1715T>C",
"hgvs_p": "p.Met572Thr"
}
],
"clinvar_disease": " Recessive, autosomal recessive, primary,Microcephaly 4,Primary Microcephaly,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Primary Microcephaly, Recessive|Microcephaly 4, primary, autosomal recessive|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}