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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: 3-4818200-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=4818200&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ITPR1",
"hgnc_id": 6180,
"hgvs_c": "c.7986C>T",
"hgvs_p": "p.Thr2662Thr",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001378452.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000235978",
"hgnc_id": null,
"hgvs_c": "n.193-3769G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000465436.5",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124906209",
"hgnc_id": null,
"hgvs_c": "n.274-3769G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "XR_007095790.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_score": -17,
"allele_count_reference_population": 215,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Autosomal dominant cerebellar ataxia,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7400000095367432,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2758,
"aa_ref": "T",
"aa_start": 2662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": 8336,
"cds_end": null,
"cds_length": 8277,
"cds_start": 7986,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "NM_001378452.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7986C>T",
"hgvs_p": "p.Thr2662Thr",
"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": "T",
"aa_end": null,
"aa_length": 2758,
"aa_ref": "T",
"aa_start": 2662,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": 8336,
"cds_end": null,
"cds_length": 8277,
"cds_start": 7986,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "ENST00000649015.2",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7986C>T",
"hgvs_p": "p.Thr2662Thr",
"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": "T",
"aa_end": null,
"aa_length": 2750,
"aa_ref": "T",
"aa_start": 2654,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9876,
"cdna_start": 8312,
"cds_end": null,
"cds_length": 8253,
"cds_start": 7962,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "ENST00000354582.12",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7962C>T",
"hgvs_p": "p.Thr2654Thr",
"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": "T",
"aa_end": null,
"aa_length": 2749,
"aa_ref": "T",
"aa_start": 2653,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9767,
"cdna_start": 8203,
"cds_end": null,
"cds_length": 8250,
"cds_start": 7959,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "ENST00000648266.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7959C>T",
"hgvs_p": "p.Thr2653Thr",
"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": "T",
"aa_end": null,
"aa_length": 2744,
"aa_ref": "T",
"aa_start": 2648,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9353,
"cdna_start": 8081,
"cds_end": null,
"cds_length": 8235,
"cds_start": 7944,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "ENST00000650294.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7944C>T",
"hgvs_p": "p.Thr2648Thr",
"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": "T",
"aa_end": null,
"aa_length": 2743,
"aa_ref": "T",
"aa_start": 2647,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9647,
"cdna_start": 8186,
"cds_end": null,
"cds_length": 8232,
"cds_start": 7941,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "ENST00000443694.5",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7941C>T",
"hgvs_p": "p.Thr2647Thr",
"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": "T",
"aa_end": null,
"aa_length": 2734,
"aa_ref": "T",
"aa_start": 2638,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9311,
"cdna_start": 7919,
"cds_end": null,
"cds_length": 8205,
"cds_start": 7914,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "ENST00000648309.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7914C>T",
"hgvs_p": "p.Thr2638Thr",
"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": "T",
"aa_end": null,
"aa_length": 2710,
"aa_ref": "T",
"aa_start": 2614,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9767,
"cdna_start": 8195,
"cds_end": null,
"cds_length": 8133,
"cds_start": 7842,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "ENST00000357086.10",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7842C>T",
"hgvs_p": "p.Thr2614Thr",
"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": "T",
"aa_end": null,
"aa_length": 2695,
"aa_ref": "T",
"aa_start": 2599,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9506,
"cdna_start": 8043,
"cds_end": null,
"cds_length": 8088,
"cds_start": 7797,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "ENST00000456211.8",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7797C>T",
"hgvs_p": "p.Thr2599Thr",
"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": "T",
"aa_end": null,
"aa_length": 2012,
"aa_ref": "T",
"aa_start": 1916,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6998,
"cdna_start": 5748,
"cds_end": null,
"cds_length": 6039,
"cds_start": 5748,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000648038.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.5748C>T",
"hgvs_p": "p.Thr1916Thr",
"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": "T",
"aa_end": null,
"aa_length": 1817,
"aa_ref": "T",
"aa_start": 1721,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6517,
"cdna_start": 5165,
"cds_end": null,
"cds_length": 5454,
"cds_start": 5163,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000648431.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.5163C>T",
"hgvs_p": "p.Thr1721Thr",
"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": "T",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "T",
"aa_start": 1642,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6373,
"cdna_start": 4927,
"cds_end": null,
"cds_length": 5217,
"cds_start": 4926,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000648212.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4926C>T",
"hgvs_p": "p.Thr1642Thr",
"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": "T",
"aa_end": null,
"aa_length": 721,
"aa_ref": "T",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1875,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000544951.6",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.1875C>T",
"hgvs_p": "p.Thr625Thr",
"intron_rank": null,
"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": "T",
"aa_end": null,
"aa_length": 2743,
"aa_ref": "T",
"aa_start": 2647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9863,
"cdna_start": 8291,
"cds_end": null,
"cds_length": 8232,
"cds_start": 7941,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "NM_001168272.2",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7941C>T",
"hgvs_p": "p.Thr2647Thr",
"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": "T",
"aa_end": null,
"aa_length": 2710,
"aa_ref": "T",
"aa_start": 2614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9764,
"cdna_start": 8192,
"cds_end": null,
"cds_length": 8133,
"cds_start": 7842,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "NM_001099952.4",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7842C>T",
"hgvs_p": "p.Thr2614Thr",
"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": "T",
"aa_end": null,
"aa_length": 2695,
"aa_ref": "T",
"aa_start": 2599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9719,
"cdna_start": 8147,
"cds_end": null,
"cds_length": 8088,
"cds_start": 7797,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "NM_002222.7",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.7797C>T",
"hgvs_p": "p.Thr2599Thr",
"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": "T",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "T",
"aa_start": 1451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5773,
"cdna_start": 4354,
"cds_end": null,
"cds_length": 4644,
"cds_start": 4353,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000648016.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4353C>T",
"hgvs_p": "p.Thr1451Thr",
"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": "T",
"aa_end": null,
"aa_length": 186,
"aa_ref": "T",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 565,
"cdna_start": 320,
"cds_end": null,
"cds_length": 563,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000478515.2",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Thr106Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497999.1",
"strand": true,
"transcript": "ENST00000478515.2",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 175,
"aa_ref": "T",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 430,
"cds_end": null,
"cds_length": 528,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000647685.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Thr79Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497835.1",
"strand": true,
"transcript": "ENST00000647685.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 175,
"aa_ref": "T",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 729,
"cds_end": null,
"cds_length": 528,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
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