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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: 3-4835252-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=4835252&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ITPR1",
"hgnc_id": 6180,
"hgvs_c": "c.8029-1522C>A",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001378452.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000235978",
"hgnc_id": null,
"hgvs_c": "n.121-4234G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000465436.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124906209",
"hgnc_id": null,
"hgvs_c": "n.11784-4234G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "XR_007095794.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2758,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": null,
"cds_end": null,
"cds_length": 8277,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378452.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.8029-1522C>A",
"hgvs_p": null,
"intron_rank": 60,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649015.2",
"protein_coding": true,
"protein_id": "NP_001365381.1",
"strand": true,
"transcript": "NM_001378452.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2758,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": null,
"cds_end": null,
"cds_length": 8277,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649015.2",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.8029-1522C>A",
"hgvs_p": null,
"intron_rank": 60,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378452.1",
"protein_coding": true,
"protein_id": "ENSP00000497605.1",
"strand": true,
"transcript": "ENST00000649015.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9876,
"cdna_start": null,
"cds_end": null,
"cds_length": 8253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354582.12",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.8005-1522C>A",
"hgvs_p": null,
"intron_rank": 60,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346595.8",
"strand": true,
"transcript": "ENST00000354582.12",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2749,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9767,
"cdna_start": null,
"cds_end": null,
"cds_length": 8250,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648266.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.8002-1522C>A",
"hgvs_p": null,
"intron_rank": 60,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498014.1",
"strand": true,
"transcript": "ENST00000648266.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2744,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9353,
"cdna_start": null,
"cds_end": null,
"cds_length": 8235,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 61,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650294.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7987-1522C>A",
"hgvs_p": null,
"intron_rank": 59,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498056.1",
"strand": true,
"transcript": "ENST00000650294.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2743,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9647,
"cdna_start": null,
"cds_end": null,
"cds_length": 8232,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 61,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000443694.5",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7984-1522C>A",
"hgvs_p": null,
"intron_rank": 59,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401671.2",
"strand": true,
"transcript": "ENST00000443694.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2734,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9311,
"cdna_start": null,
"cds_end": null,
"cds_length": 8205,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648309.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7957-1522C>A",
"hgvs_p": null,
"intron_rank": 57,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497026.1",
"strand": true,
"transcript": "ENST00000648309.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 2710,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9767,
"cdna_start": null,
"cds_end": null,
"cds_length": 8133,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357086.10",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7885-1522C>A",
"hgvs_p": null,
"intron_rank": 57,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349597.4",
"strand": true,
"transcript": "ENST00000357086.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2695,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9506,
"cdna_start": null,
"cds_end": null,
"cds_length": 8088,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456211.8",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7840-1522C>A",
"hgvs_p": null,
"intron_rank": 56,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397885.2",
"strand": true,
"transcript": "ENST00000456211.8",
"transcript_support_level": 1
},
{
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"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6998,
"cdna_start": null,
"cds_end": null,
"cds_length": 6039,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648038.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.5791-1522C>A",
"hgvs_p": null,
"intron_rank": 40,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497872.1",
"strand": true,
"transcript": "ENST00000648038.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000648431.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.5206-1522C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000498149.1",
"strand": true,
"transcript": "ENST00000648431.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": true,
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],
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"feature": "ENST00000648212.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000498022.1",
"strand": true,
"transcript": "ENST00000648212.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000544951.6",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.1918-1522C>A",
"hgvs_p": null,
"intron_rank": 18,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000440564.1",
"strand": true,
"transcript": "ENST00000544951.6",
"transcript_support_level": 1
},
{
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"consequences": [
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],
"exon_count": 61,
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"feature": "NM_001168272.2",
"gene_hgnc_id": 6180,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001161744.1",
"strand": true,
"transcript": "NM_001168272.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 9764,
"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 59,
"exon_rank": null,
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"feature": "NM_001099952.4",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7885-1522C>A",
"hgvs_p": null,
"intron_rank": 57,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001093422.2",
"strand": true,
"transcript": "NM_001099952.4",
"transcript_support_level": null
},
{
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"cdna_end": null,
"cdna_length": 9719,
"cdna_start": null,
"cds_end": null,
"cds_length": 8088,
"cds_start": null,
"consequences": [
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],
"exon_count": 58,
"exon_rank": null,
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"feature": "NM_002222.7",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7840-1522C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_002213.5",
"strand": true,
"transcript": "NM_002222.7",
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},
{
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"consequences": [
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],
"exon_count": 34,
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"feature": "ENST00000648016.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
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},
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"consequences": [
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],
"exon_count": 4,
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"feature": "ENST00000478515.2",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.361-1522C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000497999.1",
"strand": true,
"transcript": "ENST00000478515.2",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000648390.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.445-10887C>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497404.1",
"strand": true,
"transcript": "ENST00000648390.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 528,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647685.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.280-1522C>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497835.1",
"strand": true,
"transcript": "ENST00000647685.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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