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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: 5-103147896-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=103147896&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PPIP5K2",
"hgnc_id": 29035,
"hgvs_c": "c.643-35G>A",
"hgvs_p": null,
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001281471.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 25034,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1243,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15369,
"cdna_start": null,
"cds_end": null,
"cds_length": 3732,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001276277.3",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
"hgvs_c": "c.643-35G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358359.8",
"protein_coding": true,
"protein_id": "NP_001263206.1",
"strand": true,
"transcript": "NM_001276277.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1243,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15369,
"cdna_start": null,
"cds_end": null,
"cds_length": 3732,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358359.8",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
"hgvs_c": "c.643-35G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001276277.3",
"protein_coding": true,
"protein_id": "ENSP00000351126.3",
"strand": true,
"transcript": "ENST00000358359.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1222,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5842,
"cdna_start": null,
"cds_end": null,
"cds_length": 3669,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414217.5",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
"hgvs_c": "c.643-35G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416016.1",
"strand": true,
"transcript": "ENST00000414217.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15474,
"cdna_start": null,
"cds_end": null,
"cds_length": 3837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001281471.3",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
"hgvs_c": "c.643-35G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268400.1",
"strand": true,
"transcript": "NM_001281471.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4933,
"cdna_start": null,
"cds_end": null,
"cds_length": 3837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000613674.4",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
"hgvs_c": "c.643-35G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482907.1",
"strand": true,
"transcript": "ENST00000613674.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6010,
"cdna_start": null,
"cds_end": null,
"cds_length": 3837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000627916.2",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
"hgvs_c": "c.643-35G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486357.1",
"strand": true,
"transcript": "ENST00000627916.2",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 1242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15366,
"cdna_start": null,
"cds_end": null,
"cds_length": 3729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345873.2",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
"hgvs_c": "c.643-35G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332802.1",
"strand": true,
"transcript": "NM_001345873.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5807,
"cdna_start": null,
"cds_end": null,
"cds_length": 3729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960519.1",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
"hgvs_c": "c.643-35G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630578.1",
"strand": true,
"transcript": "ENST00000960519.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
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"feature": "ENST00000927930.1",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
"hgvs_c": "c.643-35G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597989.1",
"strand": true,
"transcript": "ENST00000927930.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"exon_rank": null,
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"feature": "NM_015216.5",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
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},
{
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],
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"feature": "ENST00000321521.13",
"gene_hgnc_id": 29035,
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},
{
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"feature": "NM_001345872.2",
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},
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],
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"feature": "NM_001345871.2",
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"strand": true,
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},
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"feature": "ENST00000698750.1",
"gene_hgnc_id": 29035,
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"transcript": "ENST00000698750.1",
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},
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],
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"feature": "NM_001345876.2",
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"transcript": "NM_001345876.2",
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},
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"consequences": [
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],
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"feature": "ENST00000881490.1",
"gene_hgnc_id": 29035,
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"hgvs_c": "c.643-35G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551549.1",
"strand": true,
"transcript": "ENST00000881490.1",
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},
{
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],
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"feature": "NM_001345878.2",
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},
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},
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],
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"feature": "ENST00000881499.1",
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},
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"consequences": [
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],
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"feature": "NM_001345874.2",
"gene_hgnc_id": 29035,
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"hgvs_c": "c.643-35G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001332803.1",
"strand": true,
"transcript": "NM_001345874.2",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
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"feature": "ENST00000881489.1",
"gene_hgnc_id": 29035,
"gene_symbol": "PPIP5K2",
"hgvs_c": "c.643-35G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551548.1",
"strand": true,
"transcript": "ENST00000881489.1",
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},
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