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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: 13-102649496-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=102649496&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 102649496,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000376052.5",
"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": 30,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "c.2952+10A>G",
"hgvs_p": null,
"transcript": "NM_001330588.2",
"protein_id": "NP_001317517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1262,
"cds_start": -4,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5484,
"mane_select": "ENST00000376052.5",
"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": 30,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "c.2952+10A>G",
"hgvs_p": null,
"transcript": "ENST00000376052.5",
"protein_id": "ENSP00000365220.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1262,
"cds_start": -4,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5484,
"mane_select": "NM_001330588.2",
"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": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "c.2952+10A>G",
"hgvs_p": null,
"transcript": "ENST00000376065.8",
"protein_id": "ENSP00000365233.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1249,
"cds_start": -4,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3931,
"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": 30,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "c.2952+10A>G",
"hgvs_p": null,
"transcript": "NM_001367947.1",
"protein_id": "NP_001354876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1291,
"cds_start": -4,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5571,
"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": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "c.2952+10A>G",
"hgvs_p": null,
"transcript": "NM_003291.4",
"protein_id": "NP_003282.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1249,
"cds_start": -4,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5445,
"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": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "c.2742+10A>G",
"hgvs_p": null,
"transcript": "ENST00000651544.1",
"protein_id": "ENSP00000498728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1179,
"cds_start": -4,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4341,
"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": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "c.2724+10A>G",
"hgvs_p": null,
"transcript": "ENST00000652308.1",
"protein_id": "ENSP00000498955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": -4,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3669,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "n.432+10A>G",
"hgvs_p": null,
"transcript": "ENST00000490420.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 502,
"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": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "n.*3753+10A>G",
"hgvs_p": null,
"transcript": "ENST00000651448.1",
"protein_id": "ENSP00000499164.1",
"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": 5962,
"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,
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"exon_count": 17,
"intron_rank": 11,
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"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "n.*1030+10A>G",
"hgvs_p": null,
"transcript": "ENST00000651748.1",
"protein_id": "ENSP00000498868.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"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": 9,
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"gene_symbol": "TPP2",
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"hgvs_c": "n.237+10A>G",
"hgvs_p": null,
"transcript": "ENST00000651921.1",
"protein_id": "ENSP00000499116.1",
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},
{
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"consequences": [
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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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"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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"gene_symbol": "TPP2",
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"hgvs_c": "n.3005+10A>G",
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],
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],
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 27,
"intron_rank": 23,
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"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"hgvs_c": "c.2952+10A>G",
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"transcript": "XM_047430580.1",
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}
],
"gene_symbol": "TPP2",
"gene_hgnc_id": 12016,
"dbsnp": "rs2053868",
"frequency_reference_population": 0.0010195542,
"hom_count_reference_population": 10,
"allele_count_reference_population": 1630,
"gnomad_exomes_af": 0.000577958,
"gnomad_genomes_af": 0.00521456,
"gnomad_exomes_ac": 836,
"gnomad_genomes_ac": 794,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.702,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000376052.5",
"gene_symbol": "TPP2",
"hgnc_id": 12016,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2952+10A>G",
"hgvs_p": null
}
],
"clinvar_disease": " and premature immunosenescence associated with tripeptidyl-peptidase II deficiency, immunodeficiency,Evans syndrome,TPP2-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency|TPP2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}