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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: 4-81193349-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=81193349&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": "PRKG2",
"hgnc_id": 9416,
"hgvs_c": "c.461+11238G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_006259.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "PRKG2-AS1",
"hgnc_id": 40478,
"hgvs_c": "n.736C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000512502.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 63140,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 762,
"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": 2289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006259.3",
"gene_hgnc_id": 9416,
"gene_symbol": "PRKG2",
"hgvs_c": "c.461+11238G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264399.6",
"protein_coding": true,
"protein_id": "NP_006250.1",
"strand": false,
"transcript": "NM_006259.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 762,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4922,
"cdna_start": null,
"cds_end": null,
"cds_length": 2289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000264399.6",
"gene_hgnc_id": 9416,
"gene_symbol": "PRKG2",
"hgvs_c": "c.461+11238G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006259.3",
"protein_coding": true,
"protein_id": "ENSP00000264399.1",
"strand": false,
"transcript": "ENST00000264399.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 803,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": null,
"cds_end": null,
"cds_length": 2412,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945150.1",
"gene_hgnc_id": 9416,
"gene_symbol": "PRKG2",
"hgvs_c": "c.461+11238G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615209.1",
"strand": false,
"transcript": "ENST00000945150.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 795,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5239,
"cdna_start": null,
"cds_end": null,
"cds_length": 2388,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853043.1",
"gene_hgnc_id": 9416,
"gene_symbol": "PRKG2",
"hgvs_c": "c.560+6666G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523102.1",
"strand": false,
"transcript": "ENST00000853043.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 790,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": null,
"cds_end": null,
"cds_length": 2373,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945149.1",
"gene_hgnc_id": 9416,
"gene_symbol": "PRKG2",
"hgvs_c": "c.461+11238G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615208.1",
"strand": false,
"transcript": "ENST00000945149.1",
"transcript_support_level": null
},
{
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"aa_length": 766,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853041.1",
"gene_hgnc_id": 9416,
"gene_symbol": "PRKG2",
"hgvs_c": "c.560+6666G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523100.1",
"strand": false,
"transcript": "ENST00000853041.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 762,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4927,
"cdna_start": null,
"cds_end": null,
"cds_length": 2289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363401.2",
"gene_hgnc_id": 9416,
"gene_symbol": "PRKG2",
"hgvs_c": "c.461+11238G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350330.1",
"strand": false,
"transcript": "NM_001363401.2",
"transcript_support_level": null
},
{
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"aa_length": 762,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3431,
"cdna_start": null,
"cds_end": null,
"cds_length": 2289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395578.3",
"gene_hgnc_id": 9416,
"gene_symbol": "PRKG2",
"hgvs_c": "c.461+11238G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378945.1",
"strand": false,
"transcript": "ENST00000395578.3",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5289,
"cdna_start": null,
"cds_end": null,
"cds_length": 2289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000853037.1",
"gene_hgnc_id": 9416,
"gene_symbol": "PRKG2",
"hgvs_c": "c.461+11238G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000523096.1",
"strand": false,
"transcript": "ENST00000853037.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000853039.1",
"gene_hgnc_id": 9416,
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"protein_coding": true,
"protein_id": "ENSP00000523098.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000853042.1",
"gene_hgnc_id": 9416,
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},
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"feature": "ENST00000853044.1",
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},
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"feature": "ENST00000945148.1",
"gene_hgnc_id": 9416,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615207.1",
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"transcript": "ENST00000945148.1",
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},
{
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],
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"feature": "NM_001282485.2",
"gene_hgnc_id": 9416,
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},
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"consequences": [
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],
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"feature": "ENST00000628926.1",
"gene_hgnc_id": 9416,
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"hgvs_c": "c.461+11238G>A",
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"protein_coding": true,
"protein_id": "ENSP00000486129.1",
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"transcript": "ENST00000628926.1",
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},
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000853038.1",
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"hgvs_c": "c.461+11238G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000523097.1",
"strand": false,
"transcript": "ENST00000853038.1",
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},
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],
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"feature": "ENST00000853040.1",
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],
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"feature": "ENST00000945147.1",
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},
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],
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"protein_coding": true,
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"strand": false,
"transcript": "XM_017008415.2",
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},
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"consequences": [
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],
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"feature": "XM_017008416.2",
"gene_hgnc_id": 9416,
"gene_symbol": "PRKG2",
"hgvs_c": "c.461+11238G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016863905.2",
"strand": false,
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"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "XM_047415963.1",
"gene_hgnc_id": 9416,
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