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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: 11-72616161-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72616161&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72616161,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000334456.10",
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.145-7410G>A",
"hgvs_p": null,
"transcript": "NM_002599.5",
"protein_id": "NP_002590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": -4,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": "ENST00000334456.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.145-7410G>A",
"hgvs_p": null,
"transcript": "ENST00000334456.10",
"protein_id": "ENSP00000334910.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": -4,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": "NM_002599.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.118-7410G>A",
"hgvs_p": null,
"transcript": "ENST00000540345.5",
"protein_id": "ENSP00000446399.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": -4,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.124-7410G>A",
"hgvs_p": null,
"transcript": "NM_001143839.4",
"protein_id": "NP_001137311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": -4,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.124-7410G>A",
"hgvs_p": null,
"transcript": "ENST00000544570.5",
"protein_id": "ENSP00000442256.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": -4,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.118-7410G>A",
"hgvs_p": null,
"transcript": "NM_001146209.3",
"protein_id": "NP_001139681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": -4,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.82-7410G>A",
"hgvs_p": null,
"transcript": "NM_001243784.2",
"protein_id": "NP_001230713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": -4,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.82-7410G>A",
"hgvs_p": null,
"transcript": "ENST00000444035.6",
"protein_id": "ENSP00000411657.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": -4,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.145-24805G>A",
"hgvs_p": null,
"transcript": "ENST00000418754.6",
"protein_id": "ENSP00000410310.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 826,
"cds_start": -4,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
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"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 1,
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"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.124-7410G>A",
"hgvs_p": null,
"transcript": "ENST00000376450.7",
"protein_id": "ENSP00000365633.3",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 685,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
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"gene_symbol": "PDE2A",
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"hgvs_c": "c.82-7410G>A",
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"transcript": "ENST00000538749.5",
"protein_id": "ENSP00000439683.1",
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"cds_start": -4,
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},
{
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],
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"gene_symbol": "PDE2A",
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"transcript": "ENST00000542969.2",
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},
{
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],
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"gene_symbol": "PDE2A",
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"hgvs_c": "n.281-7410G>A",
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},
{
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],
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"gene_symbol": "PDE2A",
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"hgvs_c": "n.*17-7410G>A",
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},
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],
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"transcript": "ENST00000536308.5",
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},
{
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],
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"gene_symbol": "PDE2A",
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"hgvs_c": "n.213-7410G>A",
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"transcript": "ENST00000537631.5",
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},
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],
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"hgvs_c": "n.186-7410G>A",
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"transcript": "ENST00000539367.5",
"protein_id": "ENSP00000445443.1",
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},
{
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],
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"gene_symbol": "PDE2A",
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"hgvs_c": "n.456-7410G>A",
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"transcript": "ENST00000540380.5",
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},
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],
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"gene_symbol": "PDE2A",
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"transcript": "ENST00000541998.5",
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},
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],
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},
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],
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"gene_symbol": "PDE2A",
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},
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"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"hgvs_c": "c.142-7410G>A",
"hgvs_p": null,
"transcript": "XM_005274040.4",
"protein_id": "XP_005274097.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105369377",
"gene_hgnc_id": null,
"hgvs_c": "n.456+1424C>T",
"hgvs_p": null,
"transcript": "XR_001748292.2",
"protein_id": null,
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}
],
"gene_symbol": "PDE2A",
"gene_hgnc_id": 8777,
"dbsnp": "rs3781931",
"frequency_reference_population": 0.13754222,
"hom_count_reference_population": 1585,
"allele_count_reference_population": 20932,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.137542,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 20932,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1585,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.524,
"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": "ENST00000334456.10",
"gene_symbol": "PDE2A",
"hgnc_id": 8777,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.145-7410G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_001748292.2",
"gene_symbol": "LOC105369377",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.456+1424C>T",
"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
}