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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: 19-53889900-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53889900&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "19",
"pos": 53889900,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000263431.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Val138Met",
"transcript": "NM_002739.5",
"protein_id": "NP_002730.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 697,
"cds_start": 412,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": "ENST00000263431.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Val138Met",
"transcript": "ENST00000263431.4",
"protein_id": "ENSP00000263431.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 697,
"cds_start": 412,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": "NM_002739.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Val138Met",
"transcript": "NM_001316329.2",
"protein_id": "NP_001303258.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 710,
"cds_start": 412,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Val138Met",
"transcript": "ENST00000682028.1",
"protein_id": "ENSP00000507230.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 710,
"cds_start": 412,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Val138Met",
"transcript": "ENST00000683513.1",
"protein_id": "ENSP00000506809.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 661,
"cds_start": 412,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Val10Met",
"transcript": "ENST00000474397.5",
"protein_id": "ENSP00000471271.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 98,
"cds_start": 28,
"cds_end": null,
"cds_length": 299,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Val10Met",
"transcript": "ENST00000419486.1",
"protein_id": "ENSP00000387919.2",
"transcript_support_level": 4,
"aa_start": 10,
"aa_end": null,
"aa_length": 34,
"cds_start": 28,
"cds_end": null,
"cds_length": 107,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Val10Met",
"transcript": "ENST00000479081.5",
"protein_id": "ENSP00000471544.1",
"transcript_support_level": 4,
"aa_start": 10,
"aa_end": null,
"aa_length": 18,
"cds_start": 28,
"cds_end": null,
"cds_length": 58,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Val10Met",
"transcript": "XM_047439092.1",
"protein_id": "XP_047295048.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 582,
"cds_start": 28,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1097,
"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.710G>A",
"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.714G>A",
"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
}
],
"gene_symbol": "PRKCG",
"gene_hgnc_id": 9402,
"dbsnp": "rs1192424800",
"frequency_reference_population": 6.9798773e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.97988e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8881933689117432,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.755,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9792,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.972,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000263431.4",
"gene_symbol": "PRKCG",
"hgnc_id": 9402,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Val138Met"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}