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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: 4-186196007-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186196007&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 186196007,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378802.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4V2",
"gene_hgnc_id": 23198,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Ile111Ser",
"transcript": "NM_207352.4",
"protein_id": "NP_997235.3",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 525,
"cds_start": 332,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": "ENST00000378802.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4V2",
"gene_hgnc_id": 23198,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Ile111Ser",
"transcript": "ENST00000378802.5",
"protein_id": "ENSP00000368079.4",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 525,
"cds_start": 332,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": "NM_207352.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4V2",
"gene_hgnc_id": 23198,
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Ile111Ser",
"transcript": "XM_005262935.5",
"protein_id": "XP_005262992.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 524,
"cds_start": 332,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 4654,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYP4V2",
"gene_hgnc_id": 23198,
"hgvs_c": "c.18-933T>G",
"hgvs_p": null,
"transcript": "XM_047450077.1",
"protein_id": "XP_047306033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4V2",
"gene_hgnc_id": 23198,
"hgvs_c": "n.-81T>G",
"hgvs_p": null,
"transcript": "ENST00000507209.5",
"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": 8646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP4V2",
"gene_hgnc_id": 23198,
"dbsnp": "rs119103283",
"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": 0.9778559803962708,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3799999952316284,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.926,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9656,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.326,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.38,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000378802.5",
"gene_symbol": "CYP4V2",
"hgnc_id": 23198,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.332T>G",
"hgvs_p": "p.Ile111Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}