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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: 1-148893214-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=148893214&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PDE4DIP",
"hgnc_id": 15580,
"hgvs_c": "c.552+3320A>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001377392.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 467,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2412,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8617,
"cdna_start": null,
"cds_end": null,
"cds_length": 7239,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395426.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.339+3320A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000695795.1",
"protein_coding": true,
"protein_id": "NP_001382355.1",
"strand": true,
"transcript": "NM_001395426.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2412,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8617,
"cdna_start": null,
"cds_end": null,
"cds_length": 7239,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695795.1",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.339+3320A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395426.1",
"protein_coding": true,
"protein_id": "ENSP00000512175.1",
"strand": true,
"transcript": "ENST00000695795.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8307,
"cdna_start": null,
"cds_end": null,
"cds_length": 7089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369356.8",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.141+3320A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358363.4",
"strand": true,
"transcript": "ENST00000369356.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8262,
"cdna_start": null,
"cds_end": null,
"cds_length": 7041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369354.7",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.141+3320A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358360.3",
"strand": true,
"transcript": "ENST00000369354.7",
"transcript_support_level": 1
},
{
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"aa_end": null,
"aa_length": 2240,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8150,
"cdna_start": null,
"cds_end": null,
"cds_length": 6723,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618462.4",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.339+3320A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479409.1",
"strand": true,
"transcript": "ENST00000618462.4",
"transcript_support_level": 1
},
{
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"aa_end": null,
"aa_length": 988,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4922,
"cdna_start": null,
"cds_end": null,
"cds_length": 2967,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000369351.7",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.141+3320A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358357.3",
"strand": true,
"transcript": "ENST00000369351.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4677,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369349.7",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.141+3320A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358355.3",
"strand": true,
"transcript": "ENST00000369349.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
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"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530472.5",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.552+3320A>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000482121.1",
"strand": true,
"transcript": "ENST00000530472.5",
"transcript_support_level": 1
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
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"feature": "ENST00000369347.8",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.141+3320A>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000358353.4",
"strand": true,
"transcript": "ENST00000369347.8",
"transcript_support_level": 1
},
{
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"consequences": [
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],
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"exon_rank": null,
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"feature": "NM_001377392.2",
"gene_hgnc_id": 15580,
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"mane_plus": null,
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},
{
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],
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"feature": "ENST00000695794.1",
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},
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},
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"feature": "NM_001350521.4",
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},
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"feature": "NM_001395300.1",
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},
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"feature": "ENST00000524974.5",
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"protein_coding": true,
"protein_id": "ENSP00000480806.1",
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},
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"feature": "NM_001395302.1",
"gene_hgnc_id": 15580,
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"feature": "NM_001395303.1",
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"consequences": [
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],
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"feature": "NM_001395304.1",
"gene_hgnc_id": 15580,
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"protein_coding": true,
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"strand": true,
"transcript": "NM_001395304.1",
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},
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"consequences": [
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],
"exon_count": 44,
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"feature": "NM_001198834.5",
"gene_hgnc_id": 15580,
"gene_symbol": "PDE4DIP",
"hgvs_c": "c.141+3320A>T",
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"mane_plus": null,
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"protein_id": "NP_001185763.3",
"strand": true,
"transcript": "NM_001198834.5",
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},
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