← Back to variant description
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: 2-96327298-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96327298&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96327298,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_178495.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "NM_001008949.3",
"protein_id": "NP_001008949.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 555,
"cds_start": 667,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "ENST00000439118.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008949.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000439118.3",
"protein_id": "ENSP00000389308.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 555,
"cds_start": 667,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "NM_001008949.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439118.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.760T>C",
"hgvs_p": "p.Phe254Leu",
"transcript": "ENST00000420728.1",
"protein_id": "ENSP00000396552.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 586,
"cds_start": 760,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420728.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.691T>C",
"hgvs_p": "p.Phe231Leu",
"transcript": "NM_178495.6",
"protein_id": "NP_848590.3",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 563,
"cds_start": 691,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178495.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.691T>C",
"hgvs_p": "p.Phe231Leu",
"transcript": "ENST00000361124.5",
"protein_id": "ENSP00000355121.4",
"transcript_support_level": 6,
"aa_start": 231,
"aa_end": null,
"aa_length": 563,
"cds_start": 691,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361124.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000888305.1",
"protein_id": "ENSP00000558364.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 555,
"cds_start": 667,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888305.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000939004.1",
"protein_id": "ENSP00000609063.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 555,
"cds_start": 667,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939004.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.643T>C",
"hgvs_p": "p.Phe215Leu",
"transcript": "NM_001163523.2",
"protein_id": "NP_001156995.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 547,
"cds_start": 643,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163523.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.643T>C",
"hgvs_p": "p.Phe215Leu",
"transcript": "NM_001163524.1",
"protein_id": "NP_001156996.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 547,
"cds_start": 643,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163524.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.643T>C",
"hgvs_p": "p.Phe215Leu",
"transcript": "NM_001324490.1",
"protein_id": "NP_001311419.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 547,
"cds_start": 643,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324490.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.643T>C",
"hgvs_p": "p.Phe215Leu",
"transcript": "ENST00000536814.1",
"protein_id": "ENSP00000439566.1",
"transcript_support_level": 3,
"aa_start": 215,
"aa_end": null,
"aa_length": 547,
"cds_start": 643,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536814.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "XM_017003427.2",
"protein_id": "XP_016858916.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 555,
"cds_start": 667,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003427.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"hgvs_c": "c.*102T>C",
"hgvs_p": null,
"transcript": "ENST00000420176.5",
"protein_id": "ENSP00000408336.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": null,
"cds_end": null,
"cds_length": 541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420176.5"
}
],
"gene_symbol": "ITPRIPL1",
"gene_hgnc_id": 29371,
"dbsnp": "rs753719371",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6469256281852722,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.345,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9871,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.907,
"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_178495.6",
"gene_symbol": "ITPRIPL1",
"hgnc_id": 29371,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.691T>C",
"hgvs_p": "p.Phe231Leu"
}
],
"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
}