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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: 19-53067614-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53067614&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 53067614,
"ref": "C",
"alt": "G",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000683776.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF160",
"gene_hgnc_id": 12948,
"hgvs_c": "c.*463G>C",
"hgvs_p": null,
"transcript": "NM_001322131.2",
"protein_id": "NP_001309060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": "ENST00000683776.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF160",
"gene_hgnc_id": 12948,
"hgvs_c": "c.*463G>C",
"hgvs_p": null,
"transcript": "ENST00000683776.1",
"protein_id": "ENSP00000507845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": "NM_001322131.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF160",
"gene_hgnc_id": 12948,
"hgvs_c": "c.*463G>C",
"hgvs_p": null,
"transcript": "ENST00000418871.5",
"protein_id": "ENSP00000409597.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF160",
"gene_hgnc_id": 12948,
"hgvs_c": "c.*463G>C",
"hgvs_p": null,
"transcript": "ENST00000599056.5",
"protein_id": "ENSP00000470961.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF160",
"gene_hgnc_id": 12948,
"hgvs_c": "c.*463G>C",
"hgvs_p": null,
"transcript": "ENST00000601421.5",
"protein_id": "ENSP00000470573.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 782,
"cds_start": -4,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF160",
"gene_hgnc_id": 12948,
"hgvs_c": "c.*463G>C",
"hgvs_p": null,
"transcript": "NM_001102603.2",
"protein_id": "NP_001096073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF160",
"gene_hgnc_id": 12948,
"hgvs_c": "c.*463G>C",
"hgvs_p": null,
"transcript": "NM_001322128.2",
"protein_id": "NP_001309057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF160",
"gene_hgnc_id": 12948,
"hgvs_c": "c.*463G>C",
"hgvs_p": null,
"transcript": "NM_001322129.2",
"protein_id": "NP_001309058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF160",
"gene_hgnc_id": 12948,
"hgvs_c": "c.*463G>C",
"hgvs_p": null,
"transcript": "NM_001322130.2",
"protein_id": "NP_001309059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
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"cds_length": 2457,
"cdna_start": null,
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"cdna_length": 4556,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ZNF160",
"gene_hgnc_id": 12948,
"hgvs_c": "c.*463G>C",
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"transcript": "NM_001322132.2",
"protein_id": "NP_001309061.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ZNF160",
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"hgvs_c": "c.*463G>C",
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"transcript": "NM_001322133.2",
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},
{
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"strand": false,
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],
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"gene_symbol": "ZNF160",
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},
{
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],
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"gene_symbol": "ZNF160",
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},
{
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],
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"gene_symbol": "ZNF160",
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},
{
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],
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},
{
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],
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"gene_symbol": "ZNF160",
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},
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],
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},
{
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],
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"gene_symbol": "ZNF160",
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"hgvs_c": "c.*463G>C",
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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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"transcript": "XM_047439624.1",
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},
{
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"consequences": [
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],
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"hgvs_c": "c.*463G>C",
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},
{
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}
],
"gene_symbol": "ZNF160",
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"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.218,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000683776.1",
"gene_symbol": "ZNF160",
"hgnc_id": 12948,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000816992.1",
"gene_symbol": "ENSG00000306331",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.324-4962C>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}