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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: 14-96556241-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=96556241&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 96556241,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000216277.13",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Thr611Lys",
"transcript": "NM_032632.5",
"protein_id": "NP_116021.2",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 745,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "ENST00000216277.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Thr611Lys",
"transcript": "ENST00000216277.13",
"protein_id": "ENSP00000216277.8",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 745,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "NM_032632.5",
"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": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "n.*1332C>A",
"hgvs_p": null,
"transcript": "ENST00000553689.5",
"protein_id": "ENSP00000451600.1",
"transcript_support_level": 1,
"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": 2267,
"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": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "n.1928C>A",
"hgvs_p": null,
"transcript": "ENST00000555626.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "n.*1332C>A",
"hgvs_p": null,
"transcript": "ENST00000553689.5",
"protein_id": "ENSP00000451600.1",
"transcript_support_level": 1,
"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": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Thr610Lys",
"transcript": "NM_001293627.1",
"protein_id": "NP_001280556.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 744,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Thr611Lys",
"transcript": "NM_001363662.3",
"protein_id": "NP_001350591.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 724,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Thr611Lys",
"transcript": "ENST00000392990.6",
"protein_id": "ENSP00000376716.2",
"transcript_support_level": 5,
"aa_start": 611,
"aa_end": null,
"aa_length": 724,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Thr610Lys",
"transcript": "NM_001363664.3",
"protein_id": "NP_001350593.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 723,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 4449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Thr611Lys",
"transcript": "NM_001363665.3",
"protein_id": "NP_001350594.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 699,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 4377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.1829C>A",
"hgvs_p": "p.Thr610Lys",
"transcript": "NM_001363666.3",
"protein_id": "NP_001350595.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 698,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.1082C>A",
"hgvs_p": "p.Thr361Lys",
"transcript": "NM_001293628.2",
"protein_id": "NP_001280557.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 495,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.1082C>A",
"hgvs_p": "p.Thr361Lys",
"transcript": "NM_001293632.3",
"protein_id": "NP_001280561.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 495,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"hgvs_c": "c.332C>A",
"hgvs_p": "p.Thr111Lys",
"transcript": "ENST00000556459.1",
"protein_id": "ENSP00000451757.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 179,
"cds_start": 332,
"cds_end": null,
"cds_length": 540,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PAPOLA",
"gene_hgnc_id": 14981,
"dbsnp": "rs144871315",
"frequency_reference_population": 6.840619e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84062e-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": 0.2883138954639435,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.1364,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.153,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000216277.13",
"gene_symbol": "PAPOLA",
"hgnc_id": 14981,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Thr611Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}