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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: 4-81201633-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=81201633&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 81201633,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_006259.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "NM_006259.3",
"protein_id": "NP_006250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": null,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264399.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006259.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "ENST00000264399.6",
"protein_id": "ENSP00000264399.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": null,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006259.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264399.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "ENST00000945150.1",
"protein_id": "ENSP00000615209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": null,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945150.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.462-1520T>C",
"hgvs_p": null,
"transcript": "ENST00000853043.1",
"protein_id": "ENSP00000523102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": null,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "ENST00000945149.1",
"protein_id": "ENSP00000615208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": null,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.462-1520T>C",
"hgvs_p": null,
"transcript": "ENST00000853041.1",
"protein_id": "ENSP00000523100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": null,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853041.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "NM_001363401.2",
"protein_id": "NP_001350330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": null,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363401.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "ENST00000395578.3",
"protein_id": "ENSP00000378945.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": null,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395578.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "ENST00000853037.1",
"protein_id": "ENSP00000523096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": null,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853037.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "ENST00000853039.1",
"protein_id": "ENSP00000523098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": null,
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"cds_length": 2289,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853039.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "ENST00000853042.1",
"protein_id": "ENSP00000523101.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "PRKG2",
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"hgvs_c": "c.461+2954T>C",
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"transcript": "ENST00000853044.1",
"protein_id": "ENSP00000523103.1",
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"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000853044.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 4,
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"gene_symbol": "PRKG2",
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"hgvs_c": "c.461+2954T>C",
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"transcript": "ENST00000945148.1",
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"biotype": "protein_coding",
"feature": "ENST00000945148.1"
},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "PRKG2",
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"hgvs_c": "c.461+2954T>C",
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"transcript": "NM_001282485.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 2,
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"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "ENST00000628926.1",
"protein_id": "ENSP00000486129.1",
"transcript_support_level": 2,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "PRKG2",
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},
{
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"strand": false,
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],
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"gene_symbol": "PRKG2",
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"hgvs_c": "c.461+2954T>C",
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"transcript": "ENST00000853040.1",
"protein_id": "ENSP00000523099.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "ENST00000945147.1",
"protein_id": "ENSP00000615206.1",
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},
{
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],
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"gene_symbol": "PRKG2",
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"transcript": "XM_017008415.2",
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},
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],
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},
{
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],
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"gene_symbol": "PRKG2",
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"hgvs_c": "c.461+2954T>C",
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"transcript": "XM_047415963.1",
"protein_id": "XP_047271919.1",
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"biotype": "protein_coding",
"feature": "XM_047415963.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"hgvs_c": "c.461+2954T>C",
"hgvs_p": null,
"transcript": "XM_017008418.1",
"protein_id": "XP_016863907.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 462,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017008418.1"
}
],
"gene_symbol": "PRKG2",
"gene_hgnc_id": 9416,
"dbsnp": "rs10033237",
"frequency_reference_population": 0.41512138,
"hom_count_reference_population": 18241,
"allele_count_reference_population": 63130,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.415121,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 63130,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 18241,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9700000286102295,
"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": -0.97,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.216,
"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": "NM_006259.3",
"gene_symbol": "PRKG2",
"hgnc_id": 9416,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.461+2954T>C",
"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
}