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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: 15-81232978-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=81232978&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 81232978,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000683961.1",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.312+7267G>A",
"hgvs_p": null,
"transcript": "NM_172217.5",
"protein_id": "NP_757366.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1332,
"cds_start": -4,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9634,
"mane_select": "ENST00000683961.1",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.312+7267G>A",
"hgvs_p": null,
"transcript": "ENST00000683961.1",
"protein_id": "ENSP00000508085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1332,
"cds_start": -4,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9634,
"mane_select": "NM_172217.5",
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.453+7267G>A",
"hgvs_p": null,
"transcript": "ENST00000302987.10",
"protein_id": "ENSP00000302935.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1378,
"cds_start": -4,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9542,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.465+7267G>A",
"hgvs_p": null,
"transcript": "NM_001352686.2",
"protein_id": "NP_001339615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1382,
"cds_start": -4,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9744,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.453+7267G>A",
"hgvs_p": null,
"transcript": "NM_001438661.1",
"protein_id": "NP_001425590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1379,
"cds_start": -4,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9545,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.312+7267G>A",
"hgvs_p": null,
"transcript": "NM_001172128.2",
"protein_id": "NP_001165599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1331,
"cds_start": -4,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9616,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.312+7267G>A",
"hgvs_p": null,
"transcript": "ENST00000394660.6",
"protein_id": "ENSP00000378155.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1331,
"cds_start": -4,
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"cds_length": 3996,
"cdna_start": null,
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"cdna_length": 9616,
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.312+7267G>A",
"hgvs_p": null,
"transcript": "ENST00000706926.1",
"protein_id": "ENSP00000516648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1331,
"cds_start": -4,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9744,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"hgvs_c": "c.-347+7267G>A",
"hgvs_p": null,
"transcript": "NM_001352685.2",
"protein_id": "NP_001339614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1161,
"cds_start": -4,
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"cds_length": 3486,
"cdna_start": null,
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"cdna_length": 9779,
"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 2,
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"gene_symbol": "IL16",
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"hgvs_c": "c.-1708+7267G>A",
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"transcript": "NM_001352684.2",
"protein_id": "NP_001339613.1",
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"aa_start": null,
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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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"intron_rank": 2,
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"gene_symbol": "IL16",
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"hgvs_c": "c.312+7267G>A",
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"transcript": "ENST00000559383.5",
"protein_id": "ENSP00000453250.1",
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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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},
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],
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},
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "IL16",
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"hgvs_c": "c.504+7267G>A",
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"transcript": "XM_047432458.1",
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}
],
"gene_symbol": "IL16",
"gene_hgnc_id": 5980,
"dbsnp": "rs12907134",
"frequency_reference_population": 0.4862669,
"hom_count_reference_population": 18734,
"allele_count_reference_population": 73862,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.486267,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 73862,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 18734,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0099999904632568,
"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": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.507,
"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": "ENST00000683961.1",
"gene_symbol": "IL16",
"hgnc_id": 5980,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.312+7267G>A",
"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
}