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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: 10-91980672-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=91980672&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 91980672,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000265990.12",
"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": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "c.1755+114T>C",
"hgvs_p": null,
"transcript": "NM_003972.3",
"protein_id": "NP_003963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1849,
"cds_start": -4,
"cds_end": null,
"cds_length": 5550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8361,
"mane_select": "ENST00000265990.12",
"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": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "c.1755+114T>C",
"hgvs_p": null,
"transcript": "ENST00000265990.12",
"protein_id": "ENSP00000265990.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1849,
"cds_start": -4,
"cds_end": null,
"cds_length": 5550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8361,
"mane_select": "NM_003972.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "n.1089+114T>C",
"hgvs_p": null,
"transcript": "ENST00000471217.5",
"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": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "n.39+114T>C",
"hgvs_p": null,
"transcript": "ENST00000476401.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "n.2062+114T>C",
"hgvs_p": null,
"transcript": "NR_165090.1",
"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": 8221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "n.2190+114T>C",
"hgvs_p": null,
"transcript": "NR_165091.1",
"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": 8594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "n.2043+114T>C",
"hgvs_p": null,
"transcript": "NR_165092.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 8342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "n.2444+114T>C",
"hgvs_p": null,
"transcript": "NR_165093.1",
"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": 8848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "n.2066+114T>C",
"hgvs_p": null,
"transcript": "NR_165094.1",
"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": 8365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
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"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "n.2190+114T>C",
"hgvs_p": null,
"transcript": "NR_165095.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 37,
"intron_rank": 14,
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"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "n.1937+114T>C",
"hgvs_p": null,
"transcript": "NR_165096.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "BTAF1",
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},
{
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"strand": true,
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],
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},
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],
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},
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],
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},
{
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],
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},
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],
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],
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"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "c.1644+114T>C",
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"transcript": "XM_011540326.3",
"protein_id": "XP_011538628.1",
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},
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],
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},
{
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 7,
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"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"hgvs_c": "c.765+114T>C",
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"transcript": "XM_047425989.1",
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}
],
"gene_symbol": "BTAF1",
"gene_hgnc_id": 17307,
"dbsnp": "rs2792022",
"frequency_reference_population": 0.3062706,
"hom_count_reference_population": 40253,
"allele_count_reference_population": 238058,
"gnomad_exomes_af": 0.319264,
"gnomad_genomes_af": 0.252854,
"gnomad_exomes_ac": 199605,
"gnomad_genomes_ac": 38453,
"gnomad_exomes_homalt": 34150,
"gnomad_genomes_homalt": 6103,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.098,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000265990.12",
"gene_symbol": "BTAF1",
"hgnc_id": 17307,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1755+114T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}