← 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: 6-33658940-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33658940&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33658940,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_002224.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.529-81T>C",
"hgvs_p": null,
"transcript": "NM_002224.4",
"protein_id": "NP_002215.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2671,
"cds_start": -4,
"cds_end": null,
"cds_length": 8016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9079,
"mane_select": "ENST00000605930.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.529-81T>C",
"hgvs_p": null,
"transcript": "ENST00000605930.3",
"protein_id": "ENSP00000475177.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2671,
"cds_start": -4,
"cds_end": null,
"cds_length": 8016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9079,
"mane_select": "NM_002224.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.529-81T>C",
"hgvs_p": null,
"transcript": "ENST00000374316.9",
"protein_id": "ENSP00000363435.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2671,
"cds_start": -4,
"cds_end": null,
"cds_length": 8016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.529-81T>C",
"hgvs_p": null,
"transcript": "XM_047418731.1",
"protein_id": "XP_047274687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2671,
"cds_start": -4,
"cds_end": null,
"cds_length": 8016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.346-81T>C",
"hgvs_p": null,
"transcript": "XM_011514577.4",
"protein_id": "XP_011512879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2610,
"cds_start": -4,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.346-81T>C",
"hgvs_p": null,
"transcript": "XM_047418732.1",
"protein_id": "XP_047274688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2610,
"cds_start": -4,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.346-81T>C",
"hgvs_p": null,
"transcript": "XM_047418733.1",
"protein_id": "XP_047274689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2610,
"cds_start": -4,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.346-81T>C",
"hgvs_p": null,
"transcript": "XM_047418734.1",
"protein_id": "XP_047274690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2610,
"cds_start": -4,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.529-81T>C",
"hgvs_p": null,
"transcript": "XM_017010832.2",
"protein_id": "XP_016866321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": -4,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"dbsnp": "rs2296343",
"frequency_reference_population": 0.28850892,
"hom_count_reference_population": 70135,
"allele_count_reference_population": 461039,
"gnomad_exomes_af": 0.29461,
"gnomad_genomes_af": 0.230508,
"gnomad_exomes_ac": 425982,
"gnomad_genomes_ac": 35057,
"gnomad_exomes_homalt": 65407,
"gnomad_genomes_homalt": 4728,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.709,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002224.4",
"gene_symbol": "ITPR3",
"hgnc_id": 6182,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.529-81T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}