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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: 11-77443594-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77443594&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PAK1",
"hgnc_id": 8590,
"hgvs_c": "c.-22+29958G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001128620.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 140696,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3459,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002576.5",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-22+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356341.8",
"protein_coding": true,
"protein_id": "NP_002567.3",
"strand": false,
"transcript": "NM_002576.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3459,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356341.8",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-22+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002576.5",
"protein_coding": true,
"protein_id": "ENSP00000348696.4",
"strand": false,
"transcript": "ENST00000356341.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 553,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": null,
"cds_end": null,
"cds_length": 1662,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001128620.2",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-22+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122092.1",
"strand": false,
"transcript": "NM_001128620.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 553,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": null,
"cds_end": null,
"cds_length": 1662,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376268.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-19+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363197.1",
"strand": false,
"transcript": "NM_001376268.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 553,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": null,
"cds_end": null,
"cds_length": 1662,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000278568.8",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-22+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000278568.4",
"strand": false,
"transcript": "ENST00000278568.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376273.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-19+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363202.1",
"strand": false,
"transcript": "NM_001376273.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376276.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-197+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363205.1",
"strand": false,
"transcript": "NM_001376276.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376277.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-22+29815G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363206.1",
"strand": false,
"transcript": "NM_001376277.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376280.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-329+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363209.1",
"strand": false,
"transcript": "NM_001376280.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376281.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-89+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363210.1",
"strand": false,
"transcript": "NM_001376281.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376282.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-22+10227G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363211.1",
"strand": false,
"transcript": "NM_001376282.1",
"transcript_support_level": null
},
{
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"aa_length": 545,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3591,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
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"feature": "NM_001376283.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-154+29958G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001363212.1",
"strand": false,
"transcript": "NM_001376283.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 16,
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"feature": "NM_001376284.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001363213.1",
"strand": false,
"transcript": "NM_001376284.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873292.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-19+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543351.1",
"strand": false,
"transcript": "ENST00000873292.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000873293.1",
"gene_hgnc_id": 8590,
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"hgvs_c": "c.-22+30706G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543352.1",
"strand": false,
"transcript": "ENST00000873293.1",
"transcript_support_level": null
},
{
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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": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873294.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-89+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543353.1",
"strand": false,
"transcript": "ENST00000873294.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873295.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-86+29958G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543354.1",
"strand": false,
"transcript": "ENST00000873295.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000873296.1",
"gene_hgnc_id": 8590,
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"protein_coding": true,
"protein_id": "ENSP00000543355.1",
"strand": false,
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"transcript_support_level": null
},
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000873297.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-22+29815G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543356.1",
"strand": false,
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873298.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-113-18665G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543357.1",
"strand": false,
"transcript": "ENST00000873298.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873299.1",
"gene_hgnc_id": 8590,
"gene_symbol": "PAK1",
"hgvs_c": "c.-137-21043G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543358.1",
"strand": false,
"transcript": "ENST00000873299.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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