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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: 3-4782678-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=4782678&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.6447C>T",
"hgvs_p": "p.Asn2149Asn",
"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.129-17401G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000799487.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_score": -17,
"allele_count_reference_population": 126,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "ITPR1-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6800000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2758,
"aa_ref": "N",
"aa_start": 2149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": 6797,
"cds_end": null,
"cds_length": 8277,
"cds_start": 6447,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "NM_001378452.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6447C>T",
"hgvs_p": "p.Asn2149Asn",
"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": "N",
"aa_end": null,
"aa_length": 2758,
"aa_ref": "N",
"aa_start": 2149,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": 6797,
"cds_end": null,
"cds_length": 8277,
"cds_start": 6447,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000649015.2",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6447C>T",
"hgvs_p": "p.Asn2149Asn",
"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": "N",
"aa_end": null,
"aa_length": 2750,
"aa_ref": "N",
"aa_start": 2141,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9876,
"cdna_start": 6773,
"cds_end": null,
"cds_length": 8253,
"cds_start": 6423,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000354582.12",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6423C>T",
"hgvs_p": "p.Asn2141Asn",
"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": "N",
"aa_end": null,
"aa_length": 2749,
"aa_ref": "N",
"aa_start": 2140,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9767,
"cdna_start": 6664,
"cds_end": null,
"cds_length": 8250,
"cds_start": 6420,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000648266.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6420C>T",
"hgvs_p": "p.Asn2140Asn",
"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": "N",
"aa_end": null,
"aa_length": 2744,
"aa_ref": "N",
"aa_start": 2135,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9353,
"cdna_start": 6542,
"cds_end": null,
"cds_length": 8235,
"cds_start": 6405,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000650294.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6405C>T",
"hgvs_p": "p.Asn2135Asn",
"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": "N",
"aa_end": null,
"aa_length": 2743,
"aa_ref": "N",
"aa_start": 2134,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9647,
"cdna_start": 6647,
"cds_end": null,
"cds_length": 8232,
"cds_start": 6402,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000443694.5",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6402C>T",
"hgvs_p": "p.Asn2134Asn",
"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": "N",
"aa_end": null,
"aa_length": 2734,
"aa_ref": "N",
"aa_start": 2125,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9311,
"cdna_start": 6380,
"cds_end": null,
"cds_length": 8205,
"cds_start": 6375,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000648309.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6375C>T",
"hgvs_p": "p.Asn2125Asn",
"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": "N",
"aa_end": null,
"aa_length": 2710,
"aa_ref": "N",
"aa_start": 2101,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9767,
"cdna_start": 6656,
"cds_end": null,
"cds_length": 8133,
"cds_start": 6303,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000357086.10",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6303C>T",
"hgvs_p": "p.Asn2101Asn",
"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": "N",
"aa_end": null,
"aa_length": 2695,
"aa_ref": "N",
"aa_start": 2086,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9506,
"cdna_start": 6504,
"cds_end": null,
"cds_length": 8088,
"cds_start": 6258,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000456211.8",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6258C>T",
"hgvs_p": "p.Asn2086Asn",
"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": "N",
"aa_end": null,
"aa_length": 2012,
"aa_ref": "N",
"aa_start": 1403,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6998,
"cdna_start": 4209,
"cds_end": null,
"cds_length": 6039,
"cds_start": 4209,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000648038.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.4209C>T",
"hgvs_p": "p.Asn1403Asn",
"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": "N",
"aa_end": null,
"aa_length": 1817,
"aa_ref": "N",
"aa_start": 1249,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6517,
"cdna_start": 3749,
"cds_end": null,
"cds_length": 5454,
"cds_start": 3747,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000648431.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.3747C>T",
"hgvs_p": "p.Asn1249Asn",
"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": "N",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "N",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6373,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 5217,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000648212.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.3354C>T",
"hgvs_p": "p.Asn1118Asn",
"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.997-23425C>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": "N",
"aa_end": null,
"aa_length": 2743,
"aa_ref": "N",
"aa_start": 2134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9863,
"cdna_start": 6752,
"cds_end": null,
"cds_length": 8232,
"cds_start": 6402,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001168272.2",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6402C>T",
"hgvs_p": "p.Asn2134Asn",
"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": "N",
"aa_end": null,
"aa_length": 2710,
"aa_ref": "N",
"aa_start": 2101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9764,
"cdna_start": 6653,
"cds_end": null,
"cds_length": 8133,
"cds_start": 6303,
"consequences": [
"synonymous_variant"
],
"exon_count": 59,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001099952.4",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6303C>T",
"hgvs_p": "p.Asn2101Asn",
"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": "N",
"aa_end": null,
"aa_length": 2695,
"aa_ref": "N",
"aa_start": 2086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9719,
"cdna_start": 6608,
"cds_end": null,
"cds_length": 8088,
"cds_start": 6258,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_002222.7",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.6258C>T",
"hgvs_p": "p.Asn2086Asn",
"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": "N",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "N",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5773,
"cdna_start": 2782,
"cds_end": null,
"cds_length": 4644,
"cds_start": 2781,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000648016.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.2781C>T",
"hgvs_p": "p.Asn927Asn",
"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": null,
"aa_end": null,
"aa_length": 176,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": null,
"cds_end": null,
"cds_length": 531,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648390.1",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "c.445-63461C>T",
"hgvs_p": null,
"intron_rank": 3,
"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
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9305,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 61,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000302640.13",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "n.*1451C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000306253.9",
"strand": true,
"transcript": "ENST00000302640.13",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1019,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000481415.2",
"gene_hgnc_id": 6180,
"gene_symbol": "ITPR1",
"hgvs_c": "n.339C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481415.2",
"transcript_support_level": 4
},
{
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