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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: 7-148770355-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=148770355&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 148770355,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000325222.9",
"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": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
"hgvs_p": null,
"transcript": "NM_003592.3",
"protein_id": "NP_003583.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": "ENST00000325222.9",
"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": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
"hgvs_p": null,
"transcript": "ENST00000325222.9",
"protein_id": "ENSP00000326804.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": "NM_003592.3",
"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": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
"hgvs_p": null,
"transcript": "ENST00000409469.5",
"protein_id": "ENSP00000387160.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2857,
"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": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
"hgvs_p": null,
"transcript": "NM_001370660.1",
"protein_id": "NP_001357589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3524,
"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": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
"hgvs_p": null,
"transcript": "NM_001370661.1",
"protein_id": "NP_001357590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3198,
"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": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
"hgvs_p": null,
"transcript": "NM_001370662.1",
"protein_id": "NP_001357591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3139,
"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": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
"hgvs_p": null,
"transcript": "NM_001370663.1",
"protein_id": "NP_001357592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3088,
"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": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
"hgvs_p": null,
"transcript": "NM_001370664.1",
"protein_id": "NP_001357593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3441,
"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": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
"hgvs_p": null,
"transcript": "ENST00000602748.5",
"protein_id": "ENSP00000473318.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3054,
"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": 22,
"intron_rank": 9,
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"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
"hgvs_p": null,
"transcript": "ENST00000662716.1",
"protein_id": "ENSP00000499277.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 776,
"cds_start": -4,
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"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 9,
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"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "c.1083+2606T>C",
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"transcript": "ENST00000663044.1",
"protein_id": "ENSP00000499398.1",
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"aa_start": null,
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},
{
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"consequences": [
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],
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"transcript": "ENST00000665936.1",
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},
{
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],
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"gene_symbol": "CUL1",
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},
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],
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"gene_symbol": "CUL1",
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},
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],
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},
{
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],
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"gene_symbol": "CUL1",
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],
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "CUL1",
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"hgvs_c": "c.720+2606T>C",
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"transcript": "ENST00000660013.1",
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},
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],
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},
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],
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},
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],
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"hgvs_c": "n.*1163+2606T>C",
"hgvs_p": null,
"transcript": "ENST00000671421.1",
"protein_id": "ENSP00000499303.1",
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"aa_start": null,
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"feature": null
}
],
"gene_symbol": "CUL1",
"gene_hgnc_id": 2551,
"dbsnp": "rs3807446",
"frequency_reference_population": 0.054090437,
"hom_count_reference_population": 304,
"allele_count_reference_population": 8237,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0540904,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 8237,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 304,
"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": -0.581,
"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": "ENST00000325222.9",
"gene_symbol": "CUL1",
"hgnc_id": 2551,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1083+2606T>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
}