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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: 12-12465760-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=12465760&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 12465760,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_058169.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Arg192Leu",
"transcript": "NM_058169.6",
"protein_id": "NP_477517.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 196,
"cds_start": 575,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314565.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058169.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Arg192Leu",
"transcript": "ENST00000314565.9",
"protein_id": "ENSP00000321546.4",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 196,
"cds_start": 575,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058169.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314565.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.431G>T",
"hgvs_p": "p.Arg144Leu",
"transcript": "ENST00000298571.6",
"protein_id": "ENSP00000298571.6",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 148,
"cds_start": 431,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298571.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Arg213Leu",
"transcript": "ENST00000866053.1",
"protein_id": "ENSP00000536112.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 217,
"cds_start": 638,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866053.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.560G>T",
"hgvs_p": "p.Arg187Leu",
"transcript": "ENST00000922067.1",
"protein_id": "ENSP00000592126.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 191,
"cds_start": 560,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922067.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.521G>T",
"hgvs_p": "p.Arg174Leu",
"transcript": "ENST00000922068.1",
"protein_id": "ENSP00000592127.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 178,
"cds_start": 521,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922068.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "NM_001300742.3",
"protein_id": "NP_001287671.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 177,
"cds_start": 518,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300742.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.518G>T",
"hgvs_p": "p.Arg173Leu",
"transcript": "ENST00000542728.5",
"protein_id": "ENSP00000443023.1",
"transcript_support_level": 3,
"aa_start": 173,
"aa_end": null,
"aa_length": 177,
"cds_start": 518,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542728.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.431G>T",
"hgvs_p": "p.Arg144Leu",
"transcript": "NM_001330356.2",
"protein_id": "NP_001317285.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 148,
"cds_start": 431,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330356.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.485G>T",
"hgvs_p": "p.Arg162Leu",
"transcript": "XM_011520551.3",
"protein_id": "XP_011518853.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 166,
"cds_start": 485,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520551.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"hgvs_c": "c.485G>T",
"hgvs_p": "p.Arg162Leu",
"transcript": "XM_047428271.1",
"protein_id": "XP_047284227.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 166,
"cds_start": 485,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428271.1"
}
],
"gene_symbol": "BORCS5",
"gene_hgnc_id": 17950,
"dbsnp": "rs376478744",
"frequency_reference_population": 6.848049e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84805e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3847315311431885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.141,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.385,
"phylop100way_prediction": "Uncertain_significance",
"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_058169.6",
"gene_symbol": "BORCS5",
"hgnc_id": 17950,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.575G>T",
"hgvs_p": "p.Arg192Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}