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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: 22-20887688-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20887688&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20887688,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004782.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Ser210Tyr",
"transcript": "NM_004782.4",
"protein_id": "NP_004773.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 258,
"cds_start": 629,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215730.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004782.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Ser210Tyr",
"transcript": "ENST00000215730.12",
"protein_id": "ENSP00000215730.6",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 258,
"cds_start": 629,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004782.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215730.12"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Ser219Tyr",
"transcript": "ENST00000880968.1",
"protein_id": "ENSP00000551027.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 267,
"cds_start": 656,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880968.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Ser210Tyr",
"transcript": "ENST00000880966.1",
"protein_id": "ENSP00000551025.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 258,
"cds_start": 629,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880966.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.626C>A",
"hgvs_p": "p.Ser209Tyr",
"transcript": "ENST00000938374.1",
"protein_id": "ENSP00000608433.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 257,
"cds_start": 626,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938374.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.566C>A",
"hgvs_p": "p.Ser189Tyr",
"transcript": "ENST00000880969.1",
"protein_id": "ENSP00000551028.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 237,
"cds_start": 566,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880969.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.530C>A",
"hgvs_p": "p.Ser177Tyr",
"transcript": "ENST00000880967.1",
"protein_id": "ENSP00000551026.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 225,
"cds_start": 530,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880967.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.350C>A",
"hgvs_p": "p.Ser117Tyr",
"transcript": "ENST00000439214.1",
"protein_id": "ENSP00000411095.1",
"transcript_support_level": 3,
"aa_start": 117,
"aa_end": null,
"aa_length": 159,
"cds_start": 350,
"cds_end": null,
"cds_length": 481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439214.1"
}
],
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"dbsnp": "rs141934766",
"frequency_reference_population": 0.0000013681032,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8133536577224731,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.697,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5086,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.806,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004782.4",
"gene_symbol": "SNAP29",
"hgnc_id": 11133,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.629C>A",
"hgvs_p": "p.Ser210Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}