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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: 16-50153964-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=50153964&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 50153964,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365324.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.His115Tyr",
"transcript": "NM_001365324.3",
"protein_id": "NP_001352253.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 713,
"cds_start": 343,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000561678.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365324.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.His115Tyr",
"transcript": "ENST00000561678.7",
"protein_id": "ENSP00000455837.3",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 713,
"cds_start": 343,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365324.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561678.7"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.His100Tyr",
"transcript": "NM_001040284.3",
"protein_id": "NP_001035374.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 698,
"cds_start": 298,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040284.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.His100Tyr",
"transcript": "ENST00000436909.8",
"protein_id": "ENSP00000396995.3",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 698,
"cds_start": 298,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436909.8"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.His95Tyr",
"transcript": "NM_001365323.2",
"protein_id": "NP_001352252.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 693,
"cds_start": 283,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365323.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.His100Tyr",
"transcript": "NM_001040285.3",
"protein_id": "NP_001035375.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 651,
"cds_start": 298,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040285.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.301C>T",
"hgvs_p": "p.His101Tyr",
"transcript": "XM_011523275.4",
"protein_id": "XP_011521577.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 699,
"cds_start": 301,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523275.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.His115Tyr",
"transcript": "XM_047434475.1",
"protein_id": "XP_047290431.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 666,
"cds_start": 343,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434475.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.301C>T",
"hgvs_p": "p.His101Tyr",
"transcript": "XM_011523276.3",
"protein_id": "XP_011521578.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 652,
"cds_start": 301,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523276.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.283C>T",
"hgvs_p": "p.His95Tyr",
"transcript": "XM_047434476.1",
"protein_id": "XP_047290432.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 646,
"cds_start": 283,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434476.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.80+932C>T",
"hgvs_p": null,
"transcript": "XM_011523278.3",
"protein_id": "XP_011521580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": null,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523278.3"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "c.80+932C>T",
"hgvs_p": null,
"transcript": "XM_047434477.1",
"protein_id": "XP_047290433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": null,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"hgvs_c": "n.-197C>T",
"hgvs_p": null,
"transcript": "ENST00000562717.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000562717.1"
}
],
"gene_symbol": "TENT4B",
"gene_hgnc_id": 30758,
"dbsnp": "rs1428945266",
"frequency_reference_population": 0.000014340562,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000130246,
"gnomad_genomes_af": 0.0000262964,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14144393801689148,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.1025,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.587,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001365324.3",
"gene_symbol": "TENT4B",
"hgnc_id": 30758,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.343C>T",
"hgvs_p": "p.His115Tyr"
}
],
"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
}