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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: 2-191836588-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=191836588&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 191836588,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004657.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAVIN2",
"gene_hgnc_id": 10690,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Asp205His",
"transcript": "NM_004657.6",
"protein_id": "NP_004648.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 425,
"cds_start": 613,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304141.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004657.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAVIN2",
"gene_hgnc_id": 10690,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Asp205His",
"transcript": "ENST00000304141.5",
"protein_id": "ENSP00000305675.4",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 425,
"cds_start": 613,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004657.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304141.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAVIN2",
"gene_hgnc_id": 10690,
"hgvs_c": "c.610G>C",
"hgvs_p": "p.Asp204His",
"transcript": "ENST00000862063.1",
"protein_id": "ENSP00000532122.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 424,
"cds_start": 610,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862063.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAVIN2",
"gene_hgnc_id": 10690,
"hgvs_c": "c.490G>C",
"hgvs_p": "p.Asp164His",
"transcript": "ENST00000944489.1",
"protein_id": "ENSP00000614548.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 384,
"cds_start": 490,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944489.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAVIN2",
"gene_hgnc_id": 10690,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Asp154His",
"transcript": "ENST00000862062.1",
"protein_id": "ENSP00000532121.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 374,
"cds_start": 460,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862062.1"
}
],
"gene_symbol": "CAVIN2",
"gene_hgnc_id": 10690,
"dbsnp": "rs758987523",
"frequency_reference_population": 0.000004104265,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410426,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.45800355076789856,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.316,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2976,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.805,
"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": "NM_004657.6",
"gene_symbol": "CAVIN2",
"hgnc_id": 10690,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Asp205His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}