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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: 12-109904768-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109904768&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCHP",
"hgnc_id": 28135,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_032300.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 116,
"alphamissense_prediction": null,
"alphamissense_score": 0.5952,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08813676238059998,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 498,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 584,
"cds_end": null,
"cds_length": 1497,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001143852.2",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000405876.9",
"protein_coding": true,
"protein_id": "NP_001137324.1",
"strand": true,
"transcript": "NM_001143852.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 498,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 584,
"cds_end": null,
"cds_length": 1497,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000405876.9",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001143852.2",
"protein_coding": true,
"protein_id": "ENSP00000384520.4",
"strand": true,
"transcript": "ENST00000405876.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 498,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3151,
"cdna_start": 645,
"cds_end": null,
"cds_length": 1497,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000312777.9",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000324404.5",
"strand": true,
"transcript": "ENST00000312777.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 173,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 973,
"cdna_start": 882,
"cds_end": null,
"cds_length": 522,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000536408.2",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441835.2",
"strand": true,
"transcript": "ENST00000536408.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 498,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1497,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_032300.5",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115676.1",
"strand": true,
"transcript": "NM_032300.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 490,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1473,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900220.1",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570279.1",
"strand": true,
"transcript": "ENST00000900220.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 475,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3916,
"cdna_start": 578,
"cds_end": null,
"cds_length": 1428,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000955360.1",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625419.1",
"strand": true,
"transcript": "ENST00000955360.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 472,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 577,
"cds_end": null,
"cds_length": 1419,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000912830.1",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582889.1",
"strand": true,
"transcript": "ENST00000912830.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 450,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1353,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000955361.1",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625420.1",
"strand": true,
"transcript": "ENST00000955361.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 413,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 578,
"cds_end": null,
"cds_length": 1242,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000900219.1",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570278.1",
"strand": true,
"transcript": "ENST00000900219.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 498,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1497,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011538836.3",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537138.1",
"strand": true,
"transcript": "XM_011538836.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 498,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1497,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011538837.2",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537139.1",
"strand": true,
"transcript": "XM_011538837.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 435,
"aa_ref": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1308,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047429667.1",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.242A>T",
"hgvs_p": "p.Lys81Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285623.1",
"strand": true,
"transcript": "XM_047429667.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 352,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1299,
"cdna_start": 584,
"cds_end": null,
"cds_length": 1059,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017020024.1",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875513.1",
"strand": true,
"transcript": "XM_017020024.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 240,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1021,
"cdna_start": 584,
"cds_end": null,
"cds_length": 723,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047429668.1",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Lys144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285624.1",
"strand": true,
"transcript": "XM_047429668.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912831.1",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.399+621A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582890.1",
"strand": true,
"transcript": "ENST00000912831.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 853,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000537218.1",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "n.594A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000537218.1",
"transcript_support_level": 2
},
{
"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": 2077,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000544838.5",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "n.431A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000440838.1",
"strand": true,
"transcript": "ENST00000544838.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017020025.3",
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"hgvs_c": "c.-247A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875514.1",
"strand": true,
"transcript": "XM_017020025.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199975433",
"effect": "missense_variant",
"frequency_reference_population": 0.000071885115,
"gene_hgnc_id": 28135,
"gene_symbol": "TCHP",
"gnomad_exomes_ac": 106,
"gnomad_exomes_af": 0.0000725318,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.000065678,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.158,
"pos": 109904768,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.275,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_032300.5"
}
]
}