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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: 2-189782508-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189782508&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ORMDL1",
"hgnc_id": 16036,
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001371385.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0809,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12090525031089783,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 276,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_016467.5",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392349.9",
"protein_coding": true,
"protein_id": "NP_057551.1",
"strand": false,
"transcript": "NM_016467.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 276,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000392349.9",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016467.5",
"protein_coding": true,
"protein_id": "ENSP00000376160.4",
"strand": false,
"transcript": "ENST00000392349.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 875,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000325795.7",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326869.3",
"strand": false,
"transcript": "ENST00000325795.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 191,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000392350.7",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376161.3",
"strand": false,
"transcript": "ENST00000392350.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 158,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 166,
"cds_end": null,
"cds_length": 477,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001371385.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358314.1",
"strand": false,
"transcript": "NM_001371385.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 158,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 276,
"cds_end": null,
"cds_length": 477,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001371386.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358315.1",
"strand": false,
"transcript": "NM_001371386.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 158,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 243,
"cds_end": null,
"cds_length": 477,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000850615.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520902.1",
"strand": false,
"transcript": "ENST00000850615.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 166,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001128150.2",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121622.1",
"strand": false,
"transcript": "NM_001128150.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 166,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001371384.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358313.1",
"strand": false,
"transcript": "NM_001371384.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 573,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853746.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523805.1",
"strand": false,
"transcript": "ENST00000853746.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 298,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853747.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523806.1",
"strand": false,
"transcript": "ENST00000853747.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 380,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853748.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523807.1",
"strand": false,
"transcript": "ENST00000853748.1",
"transcript_support_level": null
},
{
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"aa_length": 153,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 689,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853749.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523808.1",
"strand": false,
"transcript": "ENST00000853749.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 267,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853750.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523809.1",
"strand": false,
"transcript": "ENST00000853750.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 153,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 375,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853751.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523810.1",
"strand": false,
"transcript": "ENST00000853751.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 251,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853752.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523811.1",
"strand": false,
"transcript": "ENST00000853752.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1251,
"cdna_start": 421,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853753.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523812.1",
"strand": false,
"transcript": "ENST00000853753.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1048,
"cdna_start": 219,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853755.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523814.1",
"strand": false,
"transcript": "ENST00000853755.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853757.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523816.1",
"strand": false,
"transcript": "ENST00000853757.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1458,
"cdna_start": 629,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853758.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523817.1",
"strand": false,
"transcript": "ENST00000853758.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 153,
"aa_ref": "V",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1203,
"cdna_start": 374,
"cds_end": null,
"cds_length": 462,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853759.1",
"gene_hgnc_id": 16036,
"gene_symbol": "ORMDL1",
"hgvs_c": "c.88G>A",
"hgvs_p": "p.Val30Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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