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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: 21-44417907-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44417907&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44417907,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001320350.2",
"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": 32,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "NM_003307.4",
"protein_id": "NP_003298.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": null,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397928.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003307.4"
},
{
"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": 32,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "ENST00000397928.6",
"protein_id": "ENSP00000381023.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": null,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003307.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397928.6"
},
{
"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": 33,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "ENST00000397932.6",
"protein_id": "ENSP00000381026.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1553,
"cds_start": null,
"cds_end": null,
"cds_length": 4662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397932.6"
},
{
"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": 33,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "ENST00000300482.9",
"protein_id": "ENSP00000300482.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": null,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300482.9"
},
{
"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": 32,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3087-20T>A",
"hgvs_p": null,
"transcript": "ENST00000300481.13",
"protein_id": "ENSP00000300481.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1449,
"cds_start": null,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300481.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRPM2-AS",
"gene_hgnc_id": 50758,
"hgvs_c": "n.230-2963A>T",
"hgvs_p": null,
"transcript": "ENST00000423310.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000423310.2"
},
{
"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": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "n.2599-20T>A",
"hgvs_p": null,
"transcript": "ENST00000498430.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000498430.5"
},
{
"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": 33,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "NM_001320350.2",
"protein_id": "NP_001307279.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1553,
"cds_start": null,
"cds_end": null,
"cds_length": 4662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320350.2"
},
{
"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": 33,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "NM_001433516.1",
"protein_id": "NP_001420445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1503,
"cds_start": null,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001433516.1"
},
{
"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": 33,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "ENST00000903457.1",
"protein_id": "ENSP00000573516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1499,
"cds_start": null,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903457.1"
},
{
"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": 31,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "NM_001320351.2",
"protein_id": "NP_001307280.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1469,
"cds_start": null,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320351.2"
},
{
"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": 33,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "XM_011529736.3",
"protein_id": "XP_011528038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1533,
"cds_start": null,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529736.3"
},
{
"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": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "XM_017028457.3",
"protein_id": "XP_016883946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1499,
"cds_start": null,
"cds_end": null,
"cds_length": 4500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028457.3"
},
{
"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": 27,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "XM_047440977.1",
"protein_id": "XP_047296933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1298,
"cds_start": null,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440977.1"
},
{
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null,
"transcript": "XM_047440978.1",
"protein_id": "XP_047296934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1194,
"cds_start": null,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440978.1"
},
{
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "c.3147-36T>A",
"hgvs_p": null,
"transcript": "XM_047440979.1",
"protein_id": "XP_047296935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1064,
"cds_start": null,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440979.1"
},
{
"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": 32,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"hgvs_c": "n.3230-20T>A",
"hgvs_p": null,
"transcript": "NR_038257.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_038257.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRPM2-AS",
"gene_hgnc_id": 50758,
"hgvs_c": "n.521-2963A>T",
"hgvs_p": null,
"transcript": "NR_109964.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_109964.1"
}
],
"gene_symbol": "TRPM2",
"gene_hgnc_id": 12339,
"dbsnp": "rs1785452",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.5899999737739563,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.507,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.59,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001320350.2",
"gene_symbol": "TRPM2",
"hgnc_id": 12339,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3147-20T>A",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000423310.2",
"gene_symbol": "TRPM2-AS",
"hgnc_id": 50758,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.230-2963A>T",
"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
}