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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: X-71516236-C-CTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71516236&ref=C&alt=CTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71516236,
"ref": "C",
"alt": "CTT",
"effect": "intron_variant",
"transcript": "ENST00000437147.8",
"consequences": [
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.1359-12306_1359-12305insTT",
"hgvs_p": null,
"transcript": "ENST00000437147.8",
"protein_id": "ENSP00000406517.4",
"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": 2192,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.999-12306_999-12305insTT",
"hgvs_p": null,
"transcript": "ENST00000462588.5",
"protein_id": "ENSP00000508350.1",
"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": 1826,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.*107-12306_*107-12305insTT",
"hgvs_p": null,
"transcript": "ENST00000467309.5",
"protein_id": "ENSP00000507353.1",
"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": 1313,
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.1365-12306_1365-12305insTT",
"hgvs_p": null,
"transcript": "ENST00000373775.8",
"protein_id": "ENSP00000362880.4",
"transcript_support_level": 5,
"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": 2199,
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.*805-12306_*805-12305insTT",
"hgvs_p": null,
"transcript": "ENST00000461764.6",
"protein_id": "ENSP00000507638.1",
"transcript_support_level": 5,
"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": 1575,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.906-12306_906-12305insTT",
"hgvs_p": null,
"transcript": "ENST00000468167.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1738,
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.*646-12306_*646-12305insTT",
"hgvs_p": null,
"transcript": "ENST00000485087.6",
"protein_id": "ENSP00000507626.1",
"transcript_support_level": 5,
"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": 2221,
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.*789-12306_*789-12305insTT",
"hgvs_p": null,
"transcript": "ENST00000682124.1",
"protein_id": "ENSP00000507339.1",
"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": 1523,
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.*640-12306_*640-12305insTT",
"hgvs_p": null,
"transcript": "ENST00000683358.1",
"protein_id": "ENSP00000507460.1",
"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": 1566,
"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,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.4788-12306_4788-12305insTT",
"hgvs_p": null,
"transcript": "ENST00000683668.1",
"protein_id": "ENSP00000507280.1",
"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,
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"cdna_length": 5620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.5520-12291_5520-12290dupTT",
"hgvs_p": null,
"transcript": "NR_104387.2",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
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"mane_select": null,
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"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": 40,
"intron_rank": 38,
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"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.5511-12291_5511-12290dupTT",
"hgvs_p": null,
"transcript": "NR_104388.2",
"protein_id": null,
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"aa_length": null,
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"cdna_length": 6507,
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 39,
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"gene_symbol": "TAF1",
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"hgvs_c": "n.5418-12291_5418-12290dupTT",
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"transcript": "NR_104389.2",
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},
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "TAF1",
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"hgvs_c": "n.5424-12291_5424-12290dupTT",
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"transcript": "NR_104390.2",
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 39,
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"gene_symbol": "TAF1",
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"hgvs_c": "n.5446-12291_5446-12290dupTT",
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"transcript": "NR_104391.2",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 38,
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"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.5440-12291_5440-12290dupTT",
"hgvs_p": null,
"transcript": "NR_104392.2",
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},
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],
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"intron_rank": 39,
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"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.5526-12291_5526-12290dupTT",
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"transcript": "NR_104393.2",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.5397-12291_5397-12290dupTT",
"hgvs_p": null,
"transcript": "NR_104394.2",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 38,
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"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.5449-12291_5449-12290dupTT",
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"transcript": "NR_104395.2",
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.549-12291_549-12290dupTT",
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"transcript": "NR_104396.2",
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}
],
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"dbsnp": "rs41469947",
"frequency_reference_population": 0.000055958455,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000559585,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.106,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000437147.8",
"gene_symbol": "TAF1",
"hgnc_id": 11535,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "n.1359-12306_1359-12305insTT",
"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
}