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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: 12-26415311-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=26415311&ref=G&alt=T&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "12",
"pos": 26415311,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002223.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"hgvs_c": "c.7298C>A",
"hgvs_p": "p.Pro2433His",
"transcript": "NM_002223.4",
"protein_id": "NP_002214.2",
"transcript_support_level": null,
"aa_start": 2433,
"aa_end": null,
"aa_length": 2701,
"cds_start": 7298,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 7711,
"cdna_end": null,
"cdna_length": 12564,
"mane_select": "ENST00000381340.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"hgvs_c": "c.7298C>A",
"hgvs_p": "p.Pro2433His",
"transcript": "ENST00000381340.8",
"protein_id": "ENSP00000370744.3",
"transcript_support_level": 1,
"aa_start": 2433,
"aa_end": null,
"aa_length": 2701,
"cds_start": 7298,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 7711,
"cdna_end": null,
"cdna_length": 12564,
"mane_select": "NM_002223.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"hgvs_c": "n.*1817C>A",
"hgvs_p": null,
"transcript": "ENST00000451599.6",
"protein_id": "ENSP00000408287.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"hgvs_c": "n.*1817C>A",
"hgvs_p": null,
"transcript": "ENST00000451599.6",
"protein_id": "ENSP00000408287.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"hgvs_c": "c.7295C>A",
"hgvs_p": "p.Pro2432His",
"transcript": "NM_001414174.1",
"protein_id": "NP_001401103.1",
"transcript_support_level": null,
"aa_start": 2432,
"aa_end": null,
"aa_length": 2700,
"cds_start": 7295,
"cds_end": null,
"cds_length": 8103,
"cdna_start": 7708,
"cdna_end": null,
"cdna_length": 12561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"hgvs_c": "c.7079C>A",
"hgvs_p": "p.Pro2360His",
"transcript": "NM_001414175.1",
"protein_id": "NP_001401104.1",
"transcript_support_level": null,
"aa_start": 2360,
"aa_end": null,
"aa_length": 2628,
"cds_start": 7079,
"cds_end": null,
"cds_length": 7887,
"cdna_start": 7492,
"cdna_end": null,
"cdna_length": 12345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"hgvs_c": "c.7358C>A",
"hgvs_p": "p.Pro2453His",
"transcript": "XM_017019266.2",
"protein_id": "XP_016874755.1",
"transcript_support_level": null,
"aa_start": 2453,
"aa_end": null,
"aa_length": 2721,
"cds_start": 7358,
"cds_end": null,
"cds_length": 8166,
"cdna_start": 7771,
"cdna_end": null,
"cdna_length": 12624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"hgvs_c": "c.7292C>A",
"hgvs_p": "p.Pro2431His",
"transcript": "XM_047428801.1",
"protein_id": "XP_047284757.1",
"transcript_support_level": null,
"aa_start": 2431,
"aa_end": null,
"aa_length": 2699,
"cds_start": 7292,
"cds_end": null,
"cds_length": 8100,
"cdna_start": 7833,
"cdna_end": null,
"cdna_length": 12686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"hgvs_c": "n.378C>A",
"hgvs_p": null,
"transcript": "ENST00000538984.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"hgvs_c": "n.7771C>A",
"hgvs_p": null,
"transcript": "XR_001748686.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255968",
"gene_hgnc_id": 58268,
"hgvs_c": "n.419-4097G>T",
"hgvs_p": null,
"transcript": "ENST00000535324.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITPR2-AS2",
"gene_hgnc_id": 58268,
"hgvs_c": "n.448-4097G>T",
"hgvs_p": null,
"transcript": "NR_199072.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITPR2",
"gene_hgnc_id": 6181,
"dbsnp": "rs368117260",
"frequency_reference_population": 0.000019995601,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000200242,
"gnomad_genomes_af": 0.0000197231,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5122692584991455,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.447,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0943,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.683,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002223.4",
"gene_symbol": "ITPR2",
"hgnc_id": 6181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7298C>A",
"hgvs_p": "p.Pro2433His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000535324.1",
"gene_symbol": "ENSG00000255968",
"hgnc_id": 58268,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.419-4097G>T",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_199072.1",
"gene_symbol": "ITPR2-AS2",
"hgnc_id": 58268,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.448-4097G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}