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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: 8-26643481-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=26643481&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 26643481,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001197293.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYSL2",
"gene_hgnc_id": 3014,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Thr390Arg",
"transcript": "NM_001197293.3",
"protein_id": "NP_001184222.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 677,
"cds_start": 1169,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": "ENST00000521913.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYSL2",
"gene_hgnc_id": 3014,
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Thr390Arg",
"transcript": "ENST00000521913.7",
"protein_id": "ENSP00000427985.2",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 677,
"cds_start": 1169,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": "NM_001197293.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYSL2",
"gene_hgnc_id": 3014,
"hgvs_c": "c.854C>G",
"hgvs_p": "p.Thr285Arg",
"transcript": "ENST00000311151.9",
"protein_id": "ENSP00000309539.5",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 572,
"cds_start": 854,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYSL2",
"gene_hgnc_id": 3014,
"hgvs_c": "c.854C>G",
"hgvs_p": "p.Thr285Arg",
"transcript": "NM_001386.6",
"protein_id": "NP_001377.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 572,
"cds_start": 854,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 4498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYSL2",
"gene_hgnc_id": 3014,
"hgvs_c": "c.746C>G",
"hgvs_p": "p.Thr249Arg",
"transcript": "NM_001244604.2",
"protein_id": "NP_001231533.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 536,
"cds_start": 746,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYSL2",
"gene_hgnc_id": 3014,
"hgvs_c": "c.746C>G",
"hgvs_p": "p.Thr249Arg",
"transcript": "ENST00000523027.1",
"protein_id": "ENSP00000431117.1",
"transcript_support_level": 2,
"aa_start": 249,
"aa_end": null,
"aa_length": 536,
"cds_start": 746,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2130,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYSL2",
"gene_hgnc_id": 3014,
"hgvs_c": "n.525C>G",
"hgvs_p": null,
"transcript": "ENST00000474808.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DPYSL2",
"gene_hgnc_id": 3014,
"dbsnp": "rs199869101",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9644010066986084,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.866,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4759,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.902,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001197293.3",
"gene_symbol": "DPYSL2",
"hgnc_id": 3014,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1169C>G",
"hgvs_p": "p.Thr390Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}