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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: 12-109908873-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109908873&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109908873,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_032300.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "NM_001143852.2",
"protein_id": "NP_001137324.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 498,
"cds_start": 815,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405876.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143852.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000405876.9",
"protein_id": "ENSP00000384520.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 498,
"cds_start": 815,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001143852.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405876.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000312777.9",
"protein_id": "ENSP00000324404.5",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 498,
"cds_start": 815,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312777.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "NM_032300.5",
"protein_id": "NP_115676.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 498,
"cds_start": 815,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032300.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000900220.1",
"protein_id": "ENSP00000570279.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 490,
"cds_start": 815,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900220.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253His",
"transcript": "ENST00000912831.1",
"protein_id": "ENSP00000582890.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 479,
"cds_start": 758,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912831.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Arg249His",
"transcript": "ENST00000955360.1",
"protein_id": "ENSP00000625419.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 475,
"cds_start": 746,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955360.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000912830.1",
"protein_id": "ENSP00000582889.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 472,
"cds_start": 815,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912830.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000955361.1",
"protein_id": "ENSP00000625420.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 450,
"cds_start": 815,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955361.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "ENST00000900219.1",
"protein_id": "ENSP00000570278.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 413,
"cds_start": 815,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900219.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "XM_011538836.3",
"protein_id": "XP_011537138.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 498,
"cds_start": 815,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538836.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "XM_011538837.2",
"protein_id": "XP_011537139.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 498,
"cds_start": 815,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538837.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Arg209His",
"transcript": "XM_047429667.1",
"protein_id": "XP_047285623.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 435,
"cds_start": 626,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429667.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"transcript": "XM_017020024.1",
"protein_id": "XP_016875513.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 352,
"cds_start": 815,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020024.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His",
"transcript": "XM_017020025.3",
"protein_id": "XP_016875514.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 346,
"cds_start": 359,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020025.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "c.702G>A",
"hgvs_p": "p.Ala234Ala",
"transcript": "XM_047429668.1",
"protein_id": "XP_047285624.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 240,
"cds_start": 702,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429668.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "n.815G>A",
"hgvs_p": null,
"transcript": "ENST00000544838.5",
"protein_id": "ENSP00000440838.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000544838.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "n.59G>A",
"hgvs_p": null,
"transcript": "ENST00000549550.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000549550.1"
}
],
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"dbsnp": "rs774352237",
"frequency_reference_population": 0.000013630326,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000129971,
"gnomad_genomes_af": 0.0000197127,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41087806224823,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.0928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.556,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032300.5",
"gene_symbol": "TCHP",
"hgnc_id": 28135,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His"
}
],
"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
}