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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: 7-148777660-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=148777660&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CUL1",
"hgnc_id": 2551,
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_003592.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 4337,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.05,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0499999523162842,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 776,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": null,
"cds_end": null,
"cds_length": 2331,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003592.3",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325222.9",
"protein_coding": true,
"protein_id": "NP_003583.2",
"strand": true,
"transcript": "NM_003592.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 776,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": null,
"cds_end": null,
"cds_length": 2331,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000325222.9",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003592.3",
"protein_coding": true,
"protein_id": "ENSP00000326804.3",
"strand": true,
"transcript": "ENST00000325222.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 776,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": null,
"cds_end": null,
"cds_length": 2331,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409469.5",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387160.1",
"strand": true,
"transcript": "ENST00000409469.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 836,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": null,
"cds_end": null,
"cds_length": 2511,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934519.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604578.1",
"strand": true,
"transcript": "ENST00000934519.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 792,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": null,
"cds_end": null,
"cds_length": 2379,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971844.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1132-6123C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641903.1",
"strand": true,
"transcript": "ENST00000971844.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 776,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": null,
"cds_end": null,
"cds_length": 2331,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370660.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357589.1",
"strand": true,
"transcript": "NM_001370660.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 776,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": null,
"cds_end": null,
"cds_length": 2331,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370661.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357590.1",
"strand": true,
"transcript": "NM_001370661.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 776,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": null,
"cds_end": null,
"cds_length": 2331,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370662.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357591.1",
"strand": true,
"transcript": "NM_001370662.1",
"transcript_support_level": null
},
{
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"aa_length": 776,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": null,
"cds_end": null,
"cds_length": 2331,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370663.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357592.1",
"strand": true,
"transcript": "NM_001370663.1",
"transcript_support_level": null
},
{
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"aa_length": 776,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": null,
"cds_end": null,
"cds_length": 2331,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370664.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357593.1",
"strand": true,
"transcript": "NM_001370664.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000602748.5",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000473318.1",
"strand": true,
"transcript": "ENST00000602748.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000662716.1",
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"protein_coding": true,
"protein_id": "ENSP00000499277.1",
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"transcript": "ENST00000662716.1",
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},
{
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"feature": "ENST00000663044.1",
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"protein_coding": true,
"protein_id": "ENSP00000499398.1",
"strand": true,
"transcript": "ENST00000663044.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 22,
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"feature": "ENST00000665936.1",
"gene_hgnc_id": 2551,
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"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000499255.1",
"strand": true,
"transcript": "ENST00000665936.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000869862.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000539921.1",
"strand": true,
"transcript": "ENST00000869862.1",
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},
{
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"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000869863.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000539922.1",
"strand": true,
"transcript": "ENST00000869863.1",
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},
{
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"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000869864.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
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"mane_plus": null,
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"strand": true,
"transcript": "ENST00000869864.1",
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},
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"consequences": [
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],
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"feature": "ENST00000869865.1",
"gene_hgnc_id": 2551,
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"protein_id": "ENSP00000539924.1",
"strand": true,
"transcript": "ENST00000869865.1",
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},
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],
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"feature": "ENST00000869866.1",
"gene_hgnc_id": 2551,
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"protein_id": "ENSP00000539925.1",
"strand": true,
"transcript": "ENST00000869866.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000934513.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
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"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604572.1",
"strand": true,
"transcript": "ENST00000934513.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": null,
"cds_end": null,
"cds_length": 2331,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934514.1",
"gene_hgnc_id": 2551,
"gene_symbol": "CUL1",
"hgvs_c": "c.1084-6123C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604573.1",
"strand": true,
"transcript": "ENST00000934514.1",
"transcript_support_level": null
},
{
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