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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: 9-113199573-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113199573&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 113199573,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000238256.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.648+241A>G",
"hgvs_p": null,
"transcript": "NM_015258.2",
"protein_id": "NP_056073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": -4,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8766,
"mane_select": "ENST00000238256.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.648+241A>G",
"hgvs_p": null,
"transcript": "ENST00000238256.8",
"protein_id": "ENSP00000238256.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": -4,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8766,
"mane_select": "NM_015258.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.648+241A>G",
"hgvs_p": null,
"transcript": "ENST00000446284.6",
"protein_id": "ENSP00000416158.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": -4,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.648+241A>G",
"hgvs_p": null,
"transcript": "ENST00000414250.2",
"protein_id": "ENSP00000415733.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.630+241A>G",
"hgvs_p": null,
"transcript": "ENST00000693271.1",
"protein_id": "ENSP00000508580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1256,
"cds_start": -4,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.630+241A>G",
"hgvs_p": null,
"transcript": "ENST00000687395.1",
"protein_id": "ENSP00000509797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1203,
"cds_start": -4,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.648+241A>G",
"hgvs_p": null,
"transcript": "ENST00000689059.1",
"protein_id": "ENSP00000508739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": -4,
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"cds_length": 3522,
"cdna_start": null,
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"cdna_length": 7248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.648+241A>G",
"hgvs_p": null,
"transcript": "ENST00000685068.1",
"protein_id": "ENSP00000510494.1",
"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": 7165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.*374+241A>G",
"hgvs_p": null,
"transcript": "ENST00000685945.1",
"protein_id": "ENSP00000510324.1",
"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": 7280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 7,
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"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.648+241A>G",
"hgvs_p": null,
"transcript": "ENST00000686727.1",
"protein_id": "ENSP00000509868.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"cdna_length": 8965,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 7,
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"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "n.803+241A>G",
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"transcript": "ENST00000686828.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"intron_rank": 6,
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"gene_symbol": "FKBP15",
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"transcript": "ENST00000688113.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "FKBP15",
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"hgvs_c": "n.648+241A>G",
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},
{
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"strand": false,
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],
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"gene_symbol": "FKBP15",
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},
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],
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},
{
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "FKBP15",
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},
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],
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},
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],
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"gene_symbol": "FKBP15",
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"hgvs_c": "n.594+241A>G",
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"transcript": "ENST00000691776.1",
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},
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],
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"gene_symbol": "FKBP15",
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},
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],
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],
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},
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],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306272",
"gene_hgnc_id": null,
"hgvs_c": "n.139-3978T>C",
"hgvs_p": null,
"transcript": "ENST00000816606.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 28,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FKBP15",
"gene_hgnc_id": 23397,
"hgvs_c": "c.648+241A>G",
"hgvs_p": null,
"transcript": "XM_006717018.3",
"protein_id": "XP_006717081.1",
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},
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"consequences": [
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],
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}
],
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"gnomad_genomes_ac": 45048,
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"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.356,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000238256.8",
"gene_symbol": "FKBP15",
"hgnc_id": 23397,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000816606.1",
"gene_symbol": "ENSG00000306272",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.139-3978T>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}