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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: 8-64616281-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=64616281&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 64616281,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_004820.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP7B1",
"gene_hgnc_id": 2652,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Gly87Glu",
"transcript": "NM_004820.5",
"protein_id": "NP_004811.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 506,
"cds_start": 260,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310193.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004820.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP7B1",
"gene_hgnc_id": 2652,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Gly87Glu",
"transcript": "ENST00000310193.4",
"protein_id": "ENSP00000310721.3",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 506,
"cds_start": 260,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004820.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310193.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP7B1",
"gene_hgnc_id": 2652,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Gly138Glu",
"transcript": "ENST00000864436.1",
"protein_id": "ENSP00000534495.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 557,
"cds_start": 413,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864436.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP7B1",
"gene_hgnc_id": 2652,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Gly87Glu",
"transcript": "ENST00000864435.1",
"protein_id": "ENSP00000534494.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 506,
"cds_start": 260,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864435.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP7B1",
"gene_hgnc_id": 2652,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Gly87Glu",
"transcript": "NM_001324112.2",
"protein_id": "NP_001311041.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 460,
"cds_start": 260,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324112.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP7B1",
"gene_hgnc_id": 2652,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Gly87Glu",
"transcript": "ENST00000948771.1",
"protein_id": "ENSP00000618830.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 437,
"cds_start": 260,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948771.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP7B1",
"gene_hgnc_id": 2652,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Gly109Glu",
"transcript": "XM_017014002.2",
"protein_id": "XP_016869491.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 528,
"cds_start": 326,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014002.2"
}
],
"gene_symbol": "CYP7B1",
"gene_hgnc_id": 2652,
"dbsnp": "rs587777221",
"frequency_reference_population": 0.000002861521,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000286152,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9916461110115051,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8059999942779541,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.68,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7052,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.943,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.997804661345248,
"dbscsnv_ada_prediction": "Pathogenic",
"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_004820.5",
"gene_symbol": "CYP7B1",
"hgnc_id": 2652,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Gly87Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}