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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: 6-165601943-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=165601943&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 165601943,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000539869.4",
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.866-58375A>G",
"hgvs_p": null,
"transcript": "NM_001385079.1",
"protein_id": "NP_001372008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1055,
"cds_start": -4,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9334,
"mane_select": "ENST00000539869.4",
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.866-58375A>G",
"hgvs_p": null,
"transcript": "ENST00000539869.4",
"protein_id": "ENSP00000438284.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1055,
"cds_start": -4,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9334,
"mane_select": "NM_001385079.1",
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.242-58375A>G",
"hgvs_p": null,
"transcript": "ENST00000647768.3",
"protein_id": "ENSP00000497930.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": -4,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4909,
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.119-58375A>G",
"hgvs_p": null,
"transcript": "ENST00000672902.1",
"protein_id": "ENSP00000500351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 820,
"cds_start": -4,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8682,
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.119-58375A>G",
"hgvs_p": null,
"transcript": "ENST00000672859.1",
"protein_id": "ENSP00000500900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4757,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.107-58375A>G",
"hgvs_p": null,
"transcript": "ENST00000676766.1",
"protein_id": "ENSP00000504611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 802,
"cds_start": -4,
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"cds_length": 2409,
"cdna_start": null,
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"cdna_length": 4774,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.73+52870A>G",
"hgvs_p": null,
"transcript": "ENST00000648917.1",
"protein_id": "ENSP00000497277.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.68-58375A>G",
"hgvs_p": null,
"transcript": "NM_001130690.3",
"protein_id": "NP_001124162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 789,
"cds_start": -4,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 1,
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"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.-91-25404A>G",
"hgvs_p": null,
"transcript": "NM_006661.4",
"protein_id": "NP_006652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8501,
"mane_select": null,
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},
{
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"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "PDE10A",
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"hgvs_c": "c.17-58375A>G",
"hgvs_p": null,
"transcript": "ENST00000647590.1",
"protein_id": "ENSP00000497062.1",
"transcript_support_level": null,
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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": 20,
"intron_rank": 1,
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"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"hgvs_c": "c.-614-58375A>G",
"hgvs_p": null,
"transcript": "ENST00000366882.7",
"protein_id": "ENSP00000355847.3",
"transcript_support_level": 5,
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{
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},
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"intron_variant"
],
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},
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],
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},
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"gene_symbol": "PDE10A",
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"transcript": "XM_017010194.3",
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"gene_symbol": "PDE10A",
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"transcript": "XM_047418099.1",
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},
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],
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}
],
"gene_symbol": "PDE10A",
"gene_hgnc_id": 8772,
"dbsnp": "rs7762160",
"frequency_reference_population": 0.364205,
"hom_count_reference_population": 10383,
"allele_count_reference_population": 55373,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.364205,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 55373,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10383,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.102,
"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": "ENST00000539869.4",
"gene_symbol": "PDE10A",
"hgnc_id": 8772,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.866-58375A>G",
"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
}