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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: 19-53889937-GC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53889937&ref=GC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 53889937,
"ref": "GC",
"alt": "TT",
"effect": "missense_variant",
"transcript": "ENST00000263431.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.449_450delGCinsTT",
"hgvs_p": "p.Cys150Phe",
"transcript": "NM_002739.5",
"protein_id": "NP_002730.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 697,
"cds_start": 449,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": "ENST00000263431.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.449_450delGCinsTT",
"hgvs_p": "p.Cys150Phe",
"transcript": "ENST00000263431.4",
"protein_id": "ENSP00000263431.3",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 697,
"cds_start": 449,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": "NM_002739.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.449_450delGCinsTT",
"hgvs_p": "p.Cys150Phe",
"transcript": "NM_001316329.2",
"protein_id": "NP_001303258.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 710,
"cds_start": 449,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.449_450delGCinsTT",
"hgvs_p": "p.Cys150Phe",
"transcript": "ENST00000682028.1",
"protein_id": "ENSP00000507230.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 710,
"cds_start": 449,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.449_450delGCinsTT",
"hgvs_p": "p.Cys150Phe",
"transcript": "ENST00000683513.1",
"protein_id": "ENSP00000506809.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 661,
"cds_start": 449,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.65_66delGCinsTT",
"hgvs_p": "p.Cys22Phe",
"transcript": "ENST00000474397.5",
"protein_id": "ENSP00000471271.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 98,
"cds_start": 65,
"cds_end": null,
"cds_length": 299,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.65_66delGCinsTT",
"hgvs_p": "p.Cys22Phe",
"transcript": "ENST00000419486.1",
"protein_id": "ENSP00000387919.2",
"transcript_support_level": 4,
"aa_start": 22,
"aa_end": null,
"aa_length": 34,
"cds_start": 65,
"cds_end": null,
"cds_length": 107,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.65_66delGCinsTT",
"hgvs_p": "p.Cys22Phe",
"transcript": "XM_047439092.1",
"protein_id": "XP_047295048.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 582,
"cds_start": 65,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "n.747_748delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000682268.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "n.751_752delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000682902.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.*7_*8delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000479081.5",
"protein_id": "ENSP00000471544.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 18,
"cds_start": -4,
"cds_end": null,
"cds_length": 58,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"dbsnp": "rs386134170",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.758,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000263431.4",
"gene_symbol": "PRKCG",
"hgnc_id": 9402,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.449_450delGCinsTT",
"hgvs_p": "p.Cys150Phe"
}
],
"clinvar_disease": "Spinocerebellar ataxia type 14",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spinocerebellar ataxia type 14",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}