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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: 1-202401869-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202401869&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202401869,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000608999.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.292-14918C>T",
"hgvs_p": null,
"transcript": "NM_002481.4",
"protein_id": "NP_002472.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": -4,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15244,
"mane_select": "ENST00000608999.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.292-14918C>T",
"hgvs_p": null,
"transcript": "ENST00000608999.6",
"protein_id": "ENSP00000476755.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": -4,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15244,
"mane_select": "NM_002481.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.292-14918C>T",
"hgvs_p": null,
"transcript": "ENST00000480184.5",
"protein_id": "ENSP00000417159.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.292-14918C>T",
"hgvs_p": null,
"transcript": "ENST00000356764.6",
"protein_id": "ENSP00000349206.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": -4,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.292-14918C>T",
"hgvs_p": null,
"transcript": "NM_001331029.2",
"protein_id": "NP_001317958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1043,
"cds_start": -4,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.292-14918C>T",
"hgvs_p": null,
"transcript": "ENST00000391959.5",
"protein_id": "ENSP00000375821.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1043,
"cds_start": -4,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.292-14918C>T",
"hgvs_p": null,
"transcript": "NM_001410283.1",
"protein_id": "NP_001397212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.292-14918C>T",
"hgvs_p": null,
"transcript": "ENST00000704899.1",
"protein_id": "ENSP00000516058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.292-14918C>T",
"hgvs_p": null,
"transcript": "NM_001167857.2",
"protein_id": "NP_001161329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": -4,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
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"cdna_length": 1829,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.292-14918C>T",
"hgvs_p": null,
"transcript": "NM_001167858.2",
"protein_id": "NP_001161330.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 386,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.292-14918C>T",
"hgvs_p": null,
"transcript": "ENST00000476364.5",
"protein_id": "ENSP00000417814.1",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"hgvs_c": "c.292-14918C>T",
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},
{
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],
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"gene_symbol": "PPP1R12B",
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"transcript": "XM_017001343.2",
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},
{
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],
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"gene_symbol": "PPP1R12B",
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},
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"hgvs_c": "c.292-14918C>T",
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"transcript": "XM_047421209.1",
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},
{
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],
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"hgvs_c": "c.292-14918C>T",
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],
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"intron_rank": 1,
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},
{
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],
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"gene_symbol": "PPP1R12B",
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"transcript": "XR_001737196.3",
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],
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"intron_rank": 1,
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"dbsnp": "rs11583656",
"frequency_reference_population": 0.12614869,
"hom_count_reference_population": 1342,
"allele_count_reference_population": 19191,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.126149,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 19191,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1342,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6000000238418579,
"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": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.045,
"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": "ENST00000608999.6",
"gene_symbol": "PPP1R12B",
"hgnc_id": 7619,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.292-14918C>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
}