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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: 1-2137467-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2137467&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2137467,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000378567.8",
"consequences": [
{
"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": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.420+2120G>C",
"hgvs_p": null,
"transcript": "NM_002744.6",
"protein_id": "NP_002735.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": -4,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "ENST00000378567.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.420+2120G>C",
"hgvs_p": null,
"transcript": "ENST00000378567.8",
"protein_id": "ENSP00000367830.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": -4,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "NM_002744.6",
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.-130+2120G>C",
"hgvs_p": null,
"transcript": "ENST00000400921.6",
"protein_id": "ENSP00000383712.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2294,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.108+2120G>C",
"hgvs_p": null,
"transcript": "NM_001242874.3",
"protein_id": "NP_001229803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2036,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.108+2120G>C",
"hgvs_p": null,
"transcript": "ENST00000461106.6",
"protein_id": "ENSP00000426412.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1916,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.-130+2120G>C",
"hgvs_p": null,
"transcript": "NM_001350803.2",
"protein_id": "NP_001337732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": -4,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2121,
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.-130+2120G>C",
"hgvs_p": null,
"transcript": "NM_001350804.2",
"protein_id": "NP_001337733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": -4,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2330,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.-130+2120G>C",
"hgvs_p": null,
"transcript": "NM_001033581.3",
"protein_id": "NP_001028753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2097,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.-130+2120G>C",
"hgvs_p": null,
"transcript": "NM_001033582.3",
"protein_id": "NP_001028754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.-489+2120G>C",
"hgvs_p": null,
"transcript": "NM_001350805.2",
"protein_id": "NP_001337734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
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"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.-489+2120G>C",
"hgvs_p": null,
"transcript": "NM_001350806.2",
"protein_id": "NP_001337735.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "PRKCZ",
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"hgvs_c": "c.330+2120G>C",
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"transcript": "ENST00000468310.5",
"protein_id": "ENSP00000424945.1",
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"cdna_start": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
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"gene_symbol": "PRKCZ",
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"hgvs_c": "c.-316+2120G>C",
"hgvs_p": null,
"transcript": "ENST00000486681.5",
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},
{
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"strand": true,
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],
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"gene_symbol": "PRKCZ",
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"hgvs_c": "c.-130+2120G>C",
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"transcript": "ENST00000470986.5",
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},
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],
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},
{
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"strand": true,
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],
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"intron_rank": 2,
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"gene_symbol": "PRKCZ",
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"hgvs_c": "c.-130+2120G>C",
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"transcript": "ENST00000470596.5",
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},
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],
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"gene_symbol": "PRKCZ",
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"transcript": "ENST00000470511.5",
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},
{
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"strand": true,
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],
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"intron_rank": 2,
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"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.-130+2120G>C",
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"transcript": "ENST00000482686.5",
"protein_id": "ENSP00000425317.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "PRKCZ",
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"hgvs_c": "c.-130+2120G>C",
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"transcript": "ENST00000496325.5",
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},
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],
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"gene_symbol": "PRKCZ",
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"transcript": "ENST00000461465.5",
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},
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],
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"gene_symbol": "PRKCZ",
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},
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],
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"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.-130+2120G>C",
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"transcript": "ENST00000466352.5",
"protein_id": "ENSP00000427134.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.-130+2120G>C",
"hgvs_p": null,
"transcript": "ENST00000495347.5",
"protein_id": "ENSP00000427085.1",
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},
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"intron_variant"
],
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"exon_count": 18,
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"gene_symbol": "PRKCZ",
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"hgvs_c": "n.640+2120G>C",
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"transcript": "XR_007061965.1",
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1986,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 5,
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"gene_symbol": "PRKCZ",
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"hgvs_c": "n.640+2120G>C",
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"transcript": "XR_007061966.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"dbsnp": "rs3128296",
"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": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.337,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000378567.8",
"gene_symbol": "PRKCZ",
"hgnc_id": 9412,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.420+2120G>C",
"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
}