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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: 8-32767339-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=32767339&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 32767339,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000405005.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "NM_013964.5",
"protein_id": "NP_039258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11983,
"mane_select": "ENST00000405005.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "ENST00000405005.8",
"protein_id": "ENSP00000384620.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11983,
"mane_select": "NM_013964.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "ENST00000356819.7",
"protein_id": "ENSP00000349275.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "n.*4476C>T",
"hgvs_p": null,
"transcript": "ENST00000651696.1",
"protein_id": "ENSP00000498690.1",
"transcript_support_level": null,
"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": 5183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "NM_001322205.2",
"protein_id": "NP_001309134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "ENST00000652592.1",
"protein_id": "ENSP00000498646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "NM_013956.5",
"protein_id": "NP_039250.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
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"cdna_length": 11998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "NM_013957.5",
"protein_id": "NP_039251.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "NM_001159999.3",
"protein_id": "NP_001153471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "NM_001159995.3",
"protein_id": "NP_001153467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"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": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
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"transcript": "ENST00000652698.1",
"protein_id": "ENSP00000499008.1",
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},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "NRG1",
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"hgvs_c": "c.*2937C>T",
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"transcript": "NM_001160001.3",
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},
{
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],
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "NRG1",
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"hgvs_c": "c.*3613C>T",
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"transcript": "NM_001322206.2",
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},
{
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],
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"gene_symbol": "NRG1",
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},
{
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],
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"gene_symbol": "NRG1",
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},
{
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],
"exon_rank": 13,
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"intron_rank": null,
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"gene_symbol": "NRG1",
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},
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],
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},
{
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],
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"hgvs_c": "c.*2937C>T",
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"transcript": "NM_001322201.2",
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],
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],
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},
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],
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"intron_rank": null,
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"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "XM_011544512.3",
"protein_id": "XP_011542814.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.*2937C>T",
"hgvs_p": null,
"transcript": "XM_017013367.2",
"protein_id": "XP_016868856.2",
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{
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{
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],
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"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
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"acmg_by_gene": [
{
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"BP4_Strong"
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"verdict": "Likely_benign",
"transcript": "ENST00000405005.8",
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"inheritance_mode": "AR",
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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
}