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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: 1-36344136-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=36344136&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 36344136,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000373132.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK40",
"gene_hgnc_id": 21373,
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Glu290*",
"transcript": "NM_001282547.2",
"protein_id": "NP_001269476.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 435,
"cds_start": 868,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": "ENST00000373132.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK40",
"gene_hgnc_id": 21373,
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Glu290*",
"transcript": "ENST00000373132.4",
"protein_id": "ENSP00000362224.4",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 435,
"cds_start": 868,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": "NM_001282547.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK40",
"gene_hgnc_id": 21373,
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Glu295*",
"transcript": "ENST00000373130.7",
"protein_id": "ENSP00000362222.3",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 440,
"cds_start": 883,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK40",
"gene_hgnc_id": 21373,
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Glu290*",
"transcript": "ENST00000373129.7",
"protein_id": "ENSP00000362221.3",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 435,
"cds_start": 868,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK40",
"gene_hgnc_id": 21373,
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Glu295*",
"transcript": "NM_001282546.2",
"protein_id": "NP_001269475.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 440,
"cds_start": 883,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK40",
"gene_hgnc_id": 21373,
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Glu290*",
"transcript": "NM_032017.3",
"protein_id": "NP_114406.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 435,
"cds_start": 868,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK40",
"gene_hgnc_id": 21373,
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Glu290*",
"transcript": "ENST00000359297.6",
"protein_id": "ENSP00000352245.2",
"transcript_support_level": 2,
"aa_start": 290,
"aa_end": null,
"aa_length": 417,
"cds_start": 868,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STK40",
"gene_hgnc_id": 21373,
"dbsnp": "rs199920883",
"frequency_reference_population": 6.8542727e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85427e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"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": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.454,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000373132.4",
"gene_symbol": "STK40",
"hgnc_id": 21373,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.868G>T",
"hgvs_p": "p.Glu290*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}