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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: 6-33695394-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33695394&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33695394,
"ref": "A",
"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": 57,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.7947+309A>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": null,
"cds_end": null,
"cds_length": 8016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000605930.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002224.4"
},
{
"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": 57,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.7947+309A>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": null,
"cds_end": null,
"cds_length": 8016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002224.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605930.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC2",
"gene_hgnc_id": 21237,
"hgvs_c": "c.*1159T>G",
"hgvs_p": null,
"transcript": "ENST00000887985.1",
"protein_id": "ENSP00000558044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887985.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC2",
"gene_hgnc_id": 21237,
"hgvs_c": "c.*1152T>G",
"hgvs_p": null,
"transcript": "ENST00000966149.1",
"protein_id": "ENSP00000636208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC2",
"gene_hgnc_id": 21237,
"hgvs_c": "c.*85T>G",
"hgvs_p": null,
"transcript": "ENST00000374231.8",
"protein_id": "ENSP00000363348.4",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374231.8"
},
{
"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": 58,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.7947+309A>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": null,
"cds_end": null,
"cds_length": 8016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374316.9"
},
{
"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": 57,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.7917+309A>C",
"hgvs_p": null,
"transcript": "ENST00000931640.1",
"protein_id": "ENSP00000601699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2661,
"cds_start": null,
"cds_end": null,
"cds_length": 7986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931640.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UQCC2",
"gene_hgnc_id": 21237,
"hgvs_c": "c.*31-777T>G",
"hgvs_p": null,
"transcript": "ENST00000931722.1",
"protein_id": "ENSP00000601781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UQCC2",
"gene_hgnc_id": 21237,
"hgvs_c": "c.*31-686T>G",
"hgvs_p": null,
"transcript": "ENST00000931723.1",
"protein_id": "ENSP00000601782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931723.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UQCC2",
"gene_hgnc_id": 21237,
"hgvs_c": "c.*30+2229T>G",
"hgvs_p": null,
"transcript": "ENST00000966148.1",
"protein_id": "ENSP00000636207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966148.1"
},
{
"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": 58,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.7947+309A>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": null,
"cds_end": null,
"cds_length": 8016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418731.1"
},
{
"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": 56,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.7764+309A>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": null,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514577.4"
},
{
"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": 57,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.7764+309A>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": null,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418732.1"
},
{
"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": 57,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.7764+309A>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": null,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418733.1"
},
{
"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": 57,
"intron_rank_end": null,
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"hgvs_c": "c.7764+309A>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": null,
"cds_end": null,
"cds_length": 7833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418734.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UQCC2",
"gene_hgnc_id": 21237,
"hgvs_c": "n.3264T>G",
"hgvs_p": null,
"transcript": "ENST00000606961.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000606961.1"
}
],
"gene_symbol": "ITPR3",
"gene_hgnc_id": 6182,
"dbsnp": "rs2281919",
"frequency_reference_population": 0.16378123,
"hom_count_reference_population": 8430,
"allele_count_reference_population": 91064,
"gnomad_exomes_af": 0.168843,
"gnomad_genomes_af": 0.150357,
"gnomad_exomes_ac": 68173,
"gnomad_genomes_ac": 22891,
"gnomad_exomes_homalt": 6375,
"gnomad_genomes_homalt": 2055,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.173,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002224.4",
"gene_symbol": "ITPR3",
"hgnc_id": 6182,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7947+309A>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000374231.8",
"gene_symbol": "UQCC2",
"hgnc_id": 21237,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.*85T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}