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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: 5-119634265-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=119634265&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 119634265,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000695508.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM170A",
"gene_hgnc_id": 27963,
"hgvs_c": "c.517C>A",
"hgvs_p": "p.Pro173Thr",
"transcript": "NM_001367956.1",
"protein_id": "NP_001354885.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 330,
"cds_start": 517,
"cds_end": null,
"cds_length": 993,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": "ENST00000695508.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM170A",
"gene_hgnc_id": 27963,
"hgvs_c": "c.517C>A",
"hgvs_p": "p.Pro173Thr",
"transcript": "ENST00000695508.1",
"protein_id": "ENSP00000511971.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 330,
"cds_start": 517,
"cds_end": null,
"cds_length": 993,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": "NM_001367956.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM170A",
"gene_hgnc_id": 27963,
"hgvs_c": "c.517C>A",
"hgvs_p": "p.Pro173Thr",
"transcript": "ENST00000335286.10",
"protein_id": "ENSP00000334285.6",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 329,
"cds_start": 517,
"cds_end": null,
"cds_length": 990,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM170A",
"gene_hgnc_id": 27963,
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Pro126Thr",
"transcript": "ENST00000379555.7",
"protein_id": "ENSP00000368873.3",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 282,
"cds_start": 376,
"cds_end": null,
"cds_length": 849,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM170A",
"gene_hgnc_id": 27963,
"hgvs_c": "c.517C>A",
"hgvs_p": "p.Pro173Thr",
"transcript": "NM_182761.4",
"protein_id": "NP_877438.2",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 329,
"cds_start": 517,
"cds_end": null,
"cds_length": 990,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM170A",
"gene_hgnc_id": 27963,
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Pro126Thr",
"transcript": "ENST00000504819.5",
"protein_id": "ENSP00000425939.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 283,
"cds_start": 376,
"cds_end": null,
"cds_length": 852,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM170A",
"gene_hgnc_id": 27963,
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Pro126Thr",
"transcript": "NM_001163991.2",
"protein_id": "NP_001157463.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 282,
"cds_start": 376,
"cds_end": null,
"cds_length": 849,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1235,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM170A",
"gene_hgnc_id": 27963,
"hgvs_c": "c.504+13C>A",
"hgvs_p": null,
"transcript": "ENST00000695509.1",
"protein_id": "ENSP00000511972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": -4,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "n.3982-763C>A",
"hgvs_p": null,
"transcript": "ENST00000515235.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 5540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM170A",
"gene_hgnc_id": 27963,
"dbsnp": "rs328694",
"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": 0.17680400609970093,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.1794,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.996,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000695508.1",
"gene_symbol": "FAM170A",
"hgnc_id": 27963,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.517C>A",
"hgvs_p": "p.Pro173Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000515235.6",
"gene_symbol": "HSD17B4",
"hgnc_id": 5213,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.3982-763C>A",
"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
}