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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: 5-31435520-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=31435520&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 31435520,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000344624.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3042+245T>G",
"hgvs_p": null,
"transcript": "NM_001382508.1",
"protein_id": "NP_001369437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5416,
"mane_select": "ENST00000344624.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3042+245T>G",
"hgvs_p": null,
"transcript": "ENST00000344624.8",
"protein_id": "ENSP00000339845.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5416,
"mane_select": "NM_001382508.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3042+245T>G",
"hgvs_p": null,
"transcript": "ENST00000511367.6",
"protein_id": "ENSP00000425979.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.2931+245T>G",
"hgvs_p": null,
"transcript": "ENST00000513349.5",
"protein_id": "ENSP00000424161.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.3042+245T>G",
"hgvs_p": null,
"transcript": "NM_013235.5",
"protein_id": "NP_037367.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "c.2931+245T>G",
"hgvs_p": null,
"transcript": "NM_001100412.2",
"protein_id": "NP_001093882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"hgvs_c": "n.186+245T>G",
"hgvs_p": null,
"transcript": "ENST00000504133.5",
"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": 617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DROSHA",
"gene_hgnc_id": 17904,
"dbsnp": "rs4867329",
"frequency_reference_population": 0.44976977,
"hom_count_reference_population": 16135,
"allele_count_reference_population": 67980,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.44977,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 67980,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 16135,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"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": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.114,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000344624.8",
"gene_symbol": "DROSHA",
"hgnc_id": 17904,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3042+245T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}