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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: 2-102362568-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102362568&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": "IL18R1",
"hgnc_id": 5988,
"hgvs_c": "c.-28-65C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_003855.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 404443,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003855.5",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-28-65C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233957.7",
"protein_coding": true,
"protein_id": "NP_003846.1",
"strand": true,
"transcript": "NM_003855.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000233957.7",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-28-65C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003855.5",
"protein_coding": true,
"protein_id": "ENSP00000233957.1",
"strand": true,
"transcript": "ENST00000233957.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3854,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409599.5",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-28-65C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387211.1",
"strand": true,
"transcript": "ENST00000409599.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000410040.5",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-28-65C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386663.1",
"strand": true,
"transcript": "ENST00000410040.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866213.1",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-23-70C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536272.1",
"strand": true,
"transcript": "ENST00000866213.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 540,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": null,
"cds_end": null,
"cds_length": 1623,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371418.1",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-28-65C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358347.1",
"strand": true,
"transcript": "NM_001371418.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 540,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4240,
"cdna_start": null,
"cds_end": null,
"cds_length": 1623,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866212.1",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-28-65C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536271.1",
"strand": true,
"transcript": "ENST00000866212.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 540,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": null,
"cds_end": null,
"cds_length": 1623,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951165.1",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-26-67C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621224.1",
"strand": true,
"transcript": "ENST00000951165.1",
"transcript_support_level": null
},
{
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"aa_length": 527,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4075,
"cdna_start": null,
"cds_end": null,
"cds_length": 1584,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000951166.1",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-28-65C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621225.1",
"strand": true,
"transcript": "ENST00000951166.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000866217.1",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
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"protein_coding": true,
"protein_id": "ENSP00000536276.1",
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},
{
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],
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"feature": "ENST00000866218.1",
"gene_hgnc_id": 5988,
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"protein_coding": true,
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},
{
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},
{
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},
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "NM_001371419.1",
"gene_hgnc_id": 5988,
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"mane_plus": null,
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},
{
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],
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"feature": "NM_001371420.1",
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"strand": true,
"transcript": "NM_001371420.1",
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},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "NM_001371421.1",
"gene_hgnc_id": 5988,
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"hgvs_c": "c.-550-65C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001358350.1",
"strand": true,
"transcript": "NM_001371421.1",
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},
{
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],
"exon_count": 11,
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"feature": "NM_001282399.2",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-306-65C>T",
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"strand": true,
"transcript": "NM_001282399.2",
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},
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},
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"feature": "ENST00000866215.1",
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},
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"consequences": [
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],
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"feature": "NM_001371422.1",
"gene_hgnc_id": 5988,
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"hgvs_c": "c.-531-65C>T",
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"protein_coding": true,
"protein_id": "NP_001358351.1",
"strand": true,
"transcript": "NM_001371422.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
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"feature": "NM_001371423.1",
"gene_hgnc_id": 5988,
"gene_symbol": "IL18R1",
"hgvs_c": "c.-531-65C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001358352.1",
"strand": true,
"transcript": "NM_001371423.1",
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},
{
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