← 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: 6-33668628-GG-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33668628&ref=GG&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ITPR3",
"hgnc_id": 6182,
"hgvs_c": "c.2000_2001delGGinsCA",
"hgvs_p": "p.Arg667Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_002224.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2671,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9079,
"cdna_start": 2281,
"cds_end": null,
"cds_length": 8016,
"cds_start": 2000,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002224.4",
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"hgvs_c": "c.2000_2001delGGinsCA",
"hgvs_p": "p.Arg667Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000605930.3",
"protein_coding": true,
"protein_id": "NP_002215.2",
"strand": true,
"transcript": "NM_002224.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2671,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9079,
"cdna_start": 2281,
"cds_end": null,
"cds_length": 8016,
"cds_start": 2000,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000605930.3",
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"hgvs_c": "c.2000_2001delGGinsCA",
"hgvs_p": "p.Arg667Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002224.4",
"protein_coding": true,
"protein_id": "ENSP00000475177.1",
"strand": true,
"transcript": "ENST00000605930.3",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2671,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9870,
"cdna_start": 3060,
"cds_end": null,
"cds_length": 8016,
"cds_start": 2000,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374316.9",
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"hgvs_c": "c.2000_2001delGGinsCA",
"hgvs_p": "p.Arg667Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363435.4",
"strand": true,
"transcript": "ENST00000374316.9",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2661,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9017,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 7986,
"cds_start": 2000,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931640.1",
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"hgvs_c": "c.2000_2001delGGinsCA",
"hgvs_p": "p.Arg667Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601699.1",
"strand": true,
"transcript": "ENST00000931640.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2671,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8862,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 8016,
"cds_start": 2000,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418731.1",
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"hgvs_c": "c.2000_2001delGGinsCA",
"hgvs_p": "p.Arg667Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274687.1",
"strand": true,
"transcript": "XM_047418731.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2610,
"aa_ref": "R",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8663,
"cdna_start": 1865,
"cds_end": null,
"cds_length": 7833,
"cds_start": 1817,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011514577.4",
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"hgvs_c": "c.1817_1818delGGinsCA",
"hgvs_p": "p.Arg606Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512879.1",
"strand": true,
"transcript": "XM_011514577.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2610,
"aa_ref": "R",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8789,
"cdna_start": 1991,
"cds_end": null,
"cds_length": 7833,
"cds_start": 1817,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418732.1",
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"hgvs_c": "c.1817_1818delGGinsCA",
"hgvs_p": "p.Arg606Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274688.1",
"strand": true,
"transcript": "XM_047418732.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2610,
"aa_ref": "R",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8790,
"cdna_start": 1992,
"cds_end": null,
"cds_length": 7833,
"cds_start": 1817,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418733.1",
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"hgvs_c": "c.1817_1818delGGinsCA",
"hgvs_p": "p.Arg606Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274689.1",
"strand": true,
"transcript": "XM_047418733.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2610,
"aa_ref": "R",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9754,
"cdna_start": 2956,
"cds_end": null,
"cds_length": 7833,
"cds_start": 1817,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418734.1",
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"hgvs_c": "c.1817_1818delGGinsCA",
"hgvs_p": "p.Arg606Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274690.1",
"strand": true,
"transcript": "XM_047418734.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1312,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 3939,
"cds_start": 2000,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017010832.2",
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"hgvs_c": "c.2000_2001delGGinsCA",
"hgvs_p": "p.Arg667Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866321.1",
"strand": true,
"transcript": "XM_017010832.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6182,
"gene_symbol": "ITPR3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.792,
"pos": 33668628,
"ref": "GG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_002224.4"
}
]
}