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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: 1-117093283-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=117093283&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 117093283,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000369466.9",
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "c.2976+382C>T",
"hgvs_p": null,
"transcript": "NM_003594.4",
"protein_id": "NP_003585.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": -4,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9439,
"mane_select": "ENST00000369466.9",
"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": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "c.2976+382C>T",
"hgvs_p": null,
"transcript": "ENST00000369466.9",
"protein_id": "ENSP00000358478.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": -4,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9439,
"mane_select": "NM_003594.4",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "n.115+382C>T",
"hgvs_p": null,
"transcript": "ENST00000492682.5",
"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": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "c.3060+382C>T",
"hgvs_p": null,
"transcript": "XM_017002550.3",
"protein_id": "XP_016858039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1190,
"cds_start": -4,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "c.3060+382C>T",
"hgvs_p": null,
"transcript": "XM_017002551.3",
"protein_id": "XP_016858040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1190,
"cds_start": -4,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "c.3057+382C>T",
"hgvs_p": null,
"transcript": "XM_017002552.3",
"protein_id": "XP_016858041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": -4,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "c.3039+382C>T",
"hgvs_p": null,
"transcript": "XM_047432135.1",
"protein_id": "XP_047288091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "c.3039+382C>T",
"hgvs_p": null,
"transcript": "XM_047432136.1",
"protein_id": "XP_047288092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "c.3036+382C>T",
"hgvs_p": null,
"transcript": "XM_047432139.1",
"protein_id": "XP_047288095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1182,
"cds_start": -4,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "c.2997+382C>T",
"hgvs_p": null,
"transcript": "XM_047432141.1",
"protein_id": "XP_047288097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1169,
"cds_start": -4,
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"cds_length": 3510,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "c.2997+382C>T",
"hgvs_p": null,
"transcript": "XM_047432143.1",
"protein_id": "XP_047288099.1",
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TTF2",
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"transcript": "XM_047432144.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "TTF2",
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"hgvs_c": "c.2994+382C>T",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TTF2",
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"hgvs_c": "c.2976+382C>T",
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"transcript": "XM_017002555.3",
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},
{
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],
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"gene_symbol": "TTF2",
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"hgvs_c": "c.2976+382C>T",
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"transcript": "XM_047432152.1",
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},
{
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"strand": true,
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],
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"intron_rank": 18,
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"gene_symbol": "TTF2",
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},
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"hgvs_c": "c.2973+382C>T",
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},
{
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"strand": true,
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],
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"intron_rank": 19,
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"gene_symbol": "TTF2",
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"hgvs_c": "c.3060+382C>T",
"hgvs_p": null,
"transcript": "XM_047432161.1",
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"strand": true,
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],
"exon_rank": null,
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],
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},
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"strand": true,
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],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"hgvs_c": "n.2997+382C>T",
"hgvs_p": null,
"transcript": "XR_007064426.1",
"protein_id": null,
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"feature": null
}
],
"gene_symbol": "TTF2",
"gene_hgnc_id": 12398,
"dbsnp": "rs10494197",
"frequency_reference_population": 0.06197196,
"hom_count_reference_population": 528,
"allele_count_reference_population": 9433,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.061972,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 9433,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 528,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.178,
"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": "ENST00000369466.9",
"gene_symbol": "TTF2",
"hgnc_id": 12398,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2976+382C>T",
"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
}