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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: 14-94233702-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94233702&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94233702,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_058237.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.566C>A",
"hgvs_p": "p.Ser189Tyr",
"transcript": "NM_058237.2",
"protein_id": "NP_478144.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 873,
"cds_start": 566,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304338.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058237.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.566C>A",
"hgvs_p": "p.Ser189Tyr",
"transcript": "ENST00000304338.8",
"protein_id": "ENSP00000305924.3",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 873,
"cds_start": 566,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058237.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304338.8"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.566C>A",
"hgvs_p": "p.Ser189Tyr",
"transcript": "ENST00000903467.1",
"protein_id": "ENSP00000573526.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 866,
"cds_start": 566,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903467.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.566C>A",
"hgvs_p": "p.Ser189Tyr",
"transcript": "ENST00000941299.1",
"protein_id": "ENSP00000611358.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 844,
"cds_start": 566,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941299.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.566C>A",
"hgvs_p": "p.Ser189Tyr",
"transcript": "ENST00000924614.1",
"protein_id": "ENSP00000594673.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 840,
"cds_start": 566,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924614.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.566C>A",
"hgvs_p": "p.Ser189Tyr",
"transcript": "ENST00000924613.1",
"protein_id": "ENSP00000594672.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 832,
"cds_start": 566,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924613.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.323C>A",
"hgvs_p": "p.Ser108Tyr",
"transcript": "NM_001348142.2",
"protein_id": "NP_001335071.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 792,
"cds_start": 323,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348142.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.245C>A",
"hgvs_p": "p.Ser82Tyr",
"transcript": "NM_001348143.2",
"protein_id": "NP_001335072.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 766,
"cds_start": 245,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348143.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.245C>A",
"hgvs_p": "p.Ser82Tyr",
"transcript": "NM_001348144.2",
"protein_id": "NP_001335073.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 766,
"cds_start": 245,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348144.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"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": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.323C>A",
"hgvs_p": "p.Ser108Tyr",
"transcript": "ENST00000556470.1",
"protein_id": "ENSP00000451556.1",
"transcript_support_level": 4,
"aa_start": 108,
"aa_end": null,
"aa_length": 112,
"cds_start": 323,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556470.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.323C>A",
"hgvs_p": "p.Ser108Tyr",
"transcript": "XM_024449672.2",
"protein_id": "XP_024305440.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 792,
"cds_start": 323,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449672.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.305C>A",
"hgvs_p": "p.Ser102Tyr",
"transcript": "XM_017021528.3",
"protein_id": "XP_016877017.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 786,
"cds_start": 305,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021528.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.245C>A",
"hgvs_p": "p.Ser82Tyr",
"transcript": "XM_011537039.3",
"protein_id": "XP_011535341.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 766,
"cds_start": 245,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537039.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.245C>A",
"hgvs_p": "p.Ser82Tyr",
"transcript": "XM_011537040.3",
"protein_id": "XP_011535342.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 766,
"cds_start": 245,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537040.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "c.245C>A",
"hgvs_p": "p.Ser82Tyr",
"transcript": "XM_024449673.2",
"protein_id": "XP_024305441.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 766,
"cds_start": 245,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449673.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"hgvs_c": "n.710C>A",
"hgvs_p": null,
"transcript": "NR_145441.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_145441.2"
}
],
"gene_symbol": "PPP4R4",
"gene_hgnc_id": 23788,
"dbsnp": "rs761641862",
"frequency_reference_population": 0.00004482027,
"hom_count_reference_population": 0,
"allele_count_reference_population": 72,
"gnomad_exomes_af": 0.000046758,
"gnomad_genomes_af": 0.000026295,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5327736139297485,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.309,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3652,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.223,
"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_058237.2",
"gene_symbol": "PPP4R4",
"hgnc_id": 23788,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.566C>A",
"hgvs_p": "p.Ser189Tyr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}