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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: 21-18297801-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=18297801&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 18297801,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000284885.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS15",
"gene_hgnc_id": 9490,
"hgvs_c": "c.2194C>T",
"hgvs_p": "p.Pro732Ser",
"transcript": "NM_002772.3",
"protein_id": "NP_002763.3",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2194,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2357,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": "ENST00000284885.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS15",
"gene_hgnc_id": 9490,
"hgvs_c": "c.2194C>T",
"hgvs_p": "p.Pro732Ser",
"transcript": "ENST00000284885.8",
"protein_id": "ENSP00000284885.3",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2194,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2357,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": "NM_002772.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS15",
"gene_hgnc_id": 9490,
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"transcript": "NM_001428056.1",
"protein_id": "NP_001414985.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2329,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS15",
"gene_hgnc_id": 9490,
"hgvs_c": "c.2194C>T",
"hgvs_p": "p.Pro732Ser",
"transcript": "NM_001428057.1",
"protein_id": "NP_001414986.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2194,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2452,
"cdna_end": null,
"cdna_length": 4171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS15",
"gene_hgnc_id": 9490,
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"transcript": "XM_011529655.2",
"protein_id": "XP_011527957.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2329,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 4115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS15",
"gene_hgnc_id": 9490,
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"transcript": "XM_011529656.3",
"protein_id": "XP_011527958.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2329,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS15",
"gene_hgnc_id": 9490,
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"transcript": "XM_047440912.1",
"protein_id": "XP_047296868.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2329,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS15",
"gene_hgnc_id": 9490,
"hgvs_c": "c.2248C>T",
"hgvs_p": "p.Pro750Ser",
"transcript": "XM_011529658.3",
"protein_id": "XP_011527960.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2248,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS15",
"gene_hgnc_id": 9490,
"hgvs_c": "c.2194C>T",
"hgvs_p": "p.Pro732Ser",
"transcript": "XM_047440913.1",
"protein_id": "XP_047296869.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2194,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMPRSS15",
"gene_hgnc_id": 9490,
"dbsnp": "rs2824721",
"frequency_reference_population": 0.7711022,
"hom_count_reference_population": 480653,
"allele_count_reference_population": 1243208,
"gnomad_exomes_af": 0.773294,
"gnomad_genomes_af": 0.750053,
"gnomad_exomes_ac": 1129173,
"gnomad_genomes_ac": 114035,
"gnomad_exomes_homalt": 437723,
"gnomad_genomes_homalt": 42930,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.796111726245726e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.0654,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.277,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000284885.8",
"gene_symbol": "TMPRSS15",
"hgnc_id": 9490,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2194C>T",
"hgvs_p": "p.Pro732Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}