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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: 5-146641480-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=146641480&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 146641480,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000394411.9",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.626-3065A>G",
"hgvs_p": null,
"transcript": "NM_181675.4",
"protein_id": "NP_858061.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10828,
"mane_select": "ENST00000394411.9",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.626-3065A>G",
"hgvs_p": null,
"transcript": "ENST00000394411.9",
"protein_id": "ENSP00000377933.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10828,
"mane_select": "NM_181675.4",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.824-3065A>G",
"hgvs_p": null,
"transcript": "ENST00000394414.5",
"protein_id": "ENSP00000377936.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2262,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.626-3065A>G",
"hgvs_p": null,
"transcript": "ENST00000394409.7",
"protein_id": "ENSP00000377931.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10704,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.593-3065A>G",
"hgvs_p": null,
"transcript": "ENST00000453001.5",
"protein_id": "ENSP00000398779.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "n.*576-3065A>G",
"hgvs_p": null,
"transcript": "ENST00000512639.5",
"protein_id": "ENSP00000426599.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "n.944-3065A>G",
"hgvs_p": null,
"transcript": "ENST00000530902.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2093,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.824-3065A>G",
"hgvs_p": null,
"transcript": "NM_181674.3",
"protein_id": "NP_858060.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10958,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.800-3065A>G",
"hgvs_p": null,
"transcript": "NM_001271900.2",
"protein_id": "NP_001258829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": -4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
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"cdna_length": 10917,
"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,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.800-3065A>G",
"hgvs_p": null,
"transcript": "ENST00000394413.7",
"protein_id": "ENSP00000377935.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": -4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
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"mane_select": null,
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"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.644-3065A>G",
"hgvs_p": null,
"transcript": "NM_001271899.1",
"protein_id": "NP_001258828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "PPP2R2B",
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"transcript": "ENST00000504198.5",
"protein_id": "ENSP00000421396.1",
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.635-3065A>G",
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"transcript": "NM_181676.3",
"protein_id": "NP_858062.1",
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},
{
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],
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"gene_symbol": "PPP2R2B",
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"hgvs_c": "c.635-3065A>G",
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"transcript": "ENST00000336640.10",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.626-3065A>G",
"hgvs_p": null,
"transcript": "NM_001428277.1",
"protein_id": "NP_001415206.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
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"hgvs_c": "c.626-3065A>G",
"hgvs_p": null,
"transcript": "NM_001428279.1",
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},
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],
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"gene_symbol": "PPP2R2B",
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"hgvs_c": "c.593-3065A>G",
"hgvs_p": null,
"transcript": "NM_001271948.2",
"protein_id": "NP_001258877.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.593-3065A>G",
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"transcript": "NM_181678.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "PPP2R2B",
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"hgvs_c": "c.593-3065A>G",
"hgvs_p": null,
"transcript": "ENST00000508545.6",
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},
{
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"intron_variant"
],
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"intron_rank": 7,
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"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"hgvs_c": "c.566-3065A>G",
"hgvs_p": null,
"transcript": "NM_181677.2",
"protein_id": "NP_858063.1",
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}
],
"gene_symbol": "PPP2R2B",
"gene_hgnc_id": 9305,
"dbsnp": "rs1895360",
"frequency_reference_population": 0.96538717,
"hom_count_reference_population": 70512,
"allele_count_reference_population": 145870,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.965387,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 145870,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 70512,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"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": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.561,
"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": "ENST00000394411.9",
"gene_symbol": "PPP2R2B",
"hgnc_id": 9305,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.626-3065A>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
}