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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: 3-4710336-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=4710336&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ITPR1",
"hgnc_id": 6180,
"hgvs_c": "c.4854C>T",
"hgvs_p": "p.Ser1618Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001378452.1",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124906210",
"hgnc_id": null,
"hgvs_c": "n.17G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "XR_007095797.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 658,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Autosomal dominant cerebellar ataxia,ITPR1-related disorder,Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7300000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2758,
"aa_ref": "S",
"aa_start": 1618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": 5204,
"cds_end": null,
"cds_length": 8277,
"cds_start": 4854,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001378452.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4854C>T",
"hgvs_p": "p.Ser1618Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2758,
"aa_ref": "S",
"aa_start": 1618,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": 5204,
"cds_end": null,
"cds_length": 8277,
"cds_start": 4854,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000649015.2",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4854C>T",
"hgvs_p": "p.Ser1618Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2750,
"aa_ref": "S",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9876,
"cdna_start": 5177,
"cds_end": null,
"cds_length": 8253,
"cds_start": 4827,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000354582.12",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4827C>T",
"hgvs_p": "p.Ser1609Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2749,
"aa_ref": "S",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9767,
"cdna_start": 5071,
"cds_end": null,
"cds_length": 8250,
"cds_start": 4827,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000648266.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4827C>T",
"hgvs_p": "p.Ser1609Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2744,
"aa_ref": "S",
"aa_start": 1603,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9353,
"cdna_start": 4946,
"cds_end": null,
"cds_length": 8235,
"cds_start": 4809,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000650294.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4809C>T",
"hgvs_p": "p.Ser1603Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2743,
"aa_ref": "S",
"aa_start": 1603,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9647,
"cdna_start": 5054,
"cds_end": null,
"cds_length": 8232,
"cds_start": 4809,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000443694.5",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4809C>T",
"hgvs_p": "p.Ser1603Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2734,
"aa_ref": "S",
"aa_start": 1594,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9311,
"cdna_start": 4787,
"cds_end": null,
"cds_length": 8205,
"cds_start": 4782,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000648309.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4782C>T",
"hgvs_p": "p.Ser1594Ser",
"intron_rank": null,
"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
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2710,
"aa_ref": "S",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9767,
"cdna_start": 5180,
"cds_end": null,
"cds_length": 8133,
"cds_start": 4827,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000357086.10",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4827C>T",
"hgvs_p": "p.Ser1609Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2695,
"aa_ref": "S",
"aa_start": 1594,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9506,
"cdna_start": 5028,
"cds_end": null,
"cds_length": 8088,
"cds_start": 4782,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000456211.8",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4782C>T",
"hgvs_p": "p.Ser1594Ser",
"intron_rank": null,
"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
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2012,
"aa_ref": "S",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6998,
"cdna_start": 2664,
"cds_end": null,
"cds_length": 6039,
"cds_start": 2664,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000648038.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.2664C>T",
"hgvs_p": "p.Ser888Ser",
"intron_rank": null,
"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
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1817,
"aa_ref": "S",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6517,
"cdna_start": 2156,
"cds_end": null,
"cds_length": 5454,
"cds_start": 2154,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000648431.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.2154C>T",
"hgvs_p": "p.Ser718Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498149.1",
"strand": true,
"transcript": "ENST00000648431.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "S",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6373,
"cdna_start": 1762,
"cds_end": null,
"cds_length": 5217,
"cds_start": 1761,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000648212.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Ser587Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498022.1",
"strand": true,
"transcript": "ENST00000648212.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 721,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": null,
"cds_end": null,
"cds_length": 2166,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544951.6",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.996+56450C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440564.1",
"strand": true,
"transcript": "ENST00000544951.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2743,
"aa_ref": "S",
"aa_start": 1603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9863,
"cdna_start": 5159,
"cds_end": null,
"cds_length": 8232,
"cds_start": 4809,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_001168272.2",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4809C>T",
"hgvs_p": "p.Ser1603Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161744.1",
"strand": true,
"transcript": "NM_001168272.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2710,
"aa_ref": "S",
"aa_start": 1609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9764,
"cdna_start": 5177,
"cds_end": null,
"cds_length": 8133,
"cds_start": 4827,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001099952.4",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4827C>T",
"hgvs_p": "p.Ser1609Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001093422.2",
"strand": true,
"transcript": "NM_001099952.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2695,
"aa_ref": "S",
"aa_start": 1594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9719,
"cdna_start": 5132,
"cds_end": null,
"cds_length": 8088,
"cds_start": 4782,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "NM_002222.7",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4782C>T",
"hgvs_p": "p.Ser1594Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002213.5",
"strand": true,
"transcript": "NM_002222.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "S",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5773,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 4644,
"cds_start": 1185,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000648016.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.1185C>T",
"hgvs_p": "p.Ser395Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496893.1",
"strand": true,
"transcript": "ENST00000648016.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 408,
"aa_ref": "S",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 429,
"cds_end": null,
"cds_length": 1227,
"cds_start": 429,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000649414.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.429C>T",
"hgvs_p": "p.Ser143Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497099.1",
"strand": true,
"transcript": "ENST00000649414.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 247,
"aa_ref": "S",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 745,
"cdna_start": 166,
"cds_end": null,
"cds_length": 744,
"cds_start": 165,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000648564.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.165C>T",
"hgvs_p": "p.Ser55Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497186.1",
"strand": true,
"transcript": "ENST00000648564.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 176,
"aa_ref": "S",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 197,
"cds_end": null,
"cds_length": 531,
"cds_start": 195,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000648390.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.195C>T",
"hgvs_p": "p.Ser65Ser",
"intron_rank": null,
"intron_rank_end": null,
"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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}