← 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: 11-113689798-AG-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=113689798&ref=AG&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TMPRSS5",
"hgnc_id": 14908,
"hgvs_c": "c.1325_1326delCTinsGA",
"hgvs_p": "p.Ala442Gly",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_030770.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"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": "G",
"aa_end": null,
"aa_length": 457,
"aa_ref": "A",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_030770.4",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.1325_1326delCTinsGA",
"hgvs_p": "p.Ala442Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299882.11",
"protein_coding": true,
"protein_id": "NP_110397.2",
"strand": false,
"transcript": "NM_030770.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 457,
"aa_ref": "A",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000299882.11",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.1325_1326delCTinsGA",
"hgvs_p": "p.Ala442Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030770.4",
"protein_coding": true,
"protein_id": "ENSP00000299882.5",
"strand": false,
"transcript": "ENST00000299882.11",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545579.6",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.1298_1299delCTinsGA",
"hgvs_p": "p.Ala433Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441104.1",
"strand": false,
"transcript": "ENST00000545579.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 413,
"aa_ref": "A",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538955.5",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.1193_1194delCTinsGA",
"hgvs_p": "p.Ala398Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445528.1",
"strand": false,
"transcript": "ENST00000538955.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 147,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": null,
"cds_end": null,
"cds_length": 444,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536856.5",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.429+432_429+433delCTinsGA",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437937.1",
"strand": false,
"transcript": "ENST00000536856.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288751.2",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.1298_1299delCTinsGA",
"hgvs_p": "p.Ala433Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275680.1",
"strand": false,
"transcript": "NM_001288751.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 413,
"aa_ref": "A",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288750.2",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.1193_1194delCTinsGA",
"hgvs_p": "p.Ala398Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275679.1",
"strand": false,
"transcript": "NM_001288750.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 388,
"aa_ref": "A",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288752.2",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.1118_1119delCTinsGA",
"hgvs_p": "p.Ala373Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275681.1",
"strand": false,
"transcript": "NM_001288752.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 388,
"aa_ref": "A",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544634.5",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.1118_1119delCTinsGA",
"hgvs_p": "p.Ala373Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440783.1",
"strand": false,
"transcript": "ENST00000544634.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1035,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288749.2",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.986_987delCTinsGA",
"hgvs_p": "p.Ala329Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275678.1",
"strand": false,
"transcript": "NM_001288749.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 344,
"aa_ref": "A",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1035,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544476.1",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.986_987delCTinsGA",
"hgvs_p": "p.Ala329Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445930.1",
"strand": false,
"transcript": "ENST00000544476.1",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 198,
"aa_ref": "A",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 597,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540540.5",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.548_549delCTinsGA",
"hgvs_p": "p.Ala183Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437761.1",
"strand": false,
"transcript": "ENST00000540540.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 412,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": null,
"cds_end": null,
"cds_length": 1239,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884651.1",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "c.1224+432_1224+433delCTinsGA",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554710.1",
"strand": false,
"transcript": "ENST00000884651.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000645981.1",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "n.*1294_*1295delCTinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496410.1",
"strand": false,
"transcript": "ENST00000645981.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NR_110046.2",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "n.1207_1208delCTinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_110046.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000645981.1",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "n.*1294_*1295delCTinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496410.1",
"strand": false,
"transcript": "ENST00000645981.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_110047.2",
"gene_hgnc_id": 14908,
"gene_symbol": "TMPRSS5",
"hgvs_c": "n.1088+432_1088+433delCTinsGA",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_110047.2",
"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": 14908,
"gene_symbol": "TMPRSS5",
"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": 4.573,
"pos": 113689798,
"ref": "AG",
"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_030770.4"
}
]
}