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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: 6-30147178-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30147178&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30147178,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000396581.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM40",
"gene_hgnc_id": 18736,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"transcript": "NM_001286633.2",
"protein_id": "NP_001273562.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 258,
"cds_start": 635,
"cds_end": null,
"cds_length": 777,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": "ENST00000396581.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM40",
"gene_hgnc_id": 18736,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"transcript": "ENST00000396581.6",
"protein_id": "ENSP00000379826.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 258,
"cds_start": 635,
"cds_end": null,
"cds_length": 777,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": "NM_001286633.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM40",
"gene_hgnc_id": 18736,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Met",
"transcript": "ENST00000307859.4",
"protein_id": "ENSP00000308310.4",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 229,
"cds_start": 548,
"cds_end": null,
"cds_length": 690,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM40",
"gene_hgnc_id": 18736,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"transcript": "ENST00000376724.6",
"protein_id": "ENSP00000365914.2",
"transcript_support_level": 2,
"aa_start": 212,
"aa_end": null,
"aa_length": 258,
"cds_start": 635,
"cds_end": null,
"cds_length": 777,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM40",
"gene_hgnc_id": 18736,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Met",
"transcript": "NM_138700.4",
"protein_id": "NP_619645.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 229,
"cds_start": 548,
"cds_end": null,
"cds_length": 690,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM40",
"gene_hgnc_id": 18736,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"transcript": "XM_011514306.2",
"protein_id": "XP_011512608.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 258,
"cds_start": 635,
"cds_end": null,
"cds_length": 777,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM40",
"gene_hgnc_id": 18736,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"transcript": "XM_011514309.2",
"protein_id": "XP_011512611.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 240,
"cds_start": 635,
"cds_end": null,
"cds_length": 723,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIM40",
"gene_hgnc_id": 18736,
"dbsnp": "rs757262",
"frequency_reference_population": 0.21799296,
"hom_count_reference_population": 40801,
"allele_count_reference_population": 351845,
"gnomad_exomes_af": 0.220098,
"gnomad_genomes_af": 0.197773,
"gnomad_exomes_ac": 321746,
"gnomad_genomes_ac": 30099,
"gnomad_exomes_homalt": 37485,
"gnomad_genomes_homalt": 3316,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0038522183895111084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.069,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.959,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000396581.6",
"gene_symbol": "TRIM40",
"hgnc_id": 18736,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}