← Back to variant description
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: 12-112689599-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112689599&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 112689599,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001347952.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.-139-102544G>A",
"hgvs_p": null,
"transcript": "NM_001347952.2",
"protein_id": "NP_001334881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.-139-102544G>A",
"hgvs_p": null,
"transcript": "ENST00000543106.6",
"protein_id": "ENSP00000440384.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.-19+114280G>A",
"hgvs_p": null,
"transcript": "ENST00000551593.5",
"protein_id": "ENSP00000446780.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.-140+97999G>A",
"hgvs_p": null,
"transcript": "ENST00000547840.5",
"protein_id": "ENSP00000450382.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.-139-102544G>A",
"hgvs_p": null,
"transcript": "ENST00000548197.5",
"protein_id": "ENSP00000446570.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.-19+37772G>A",
"hgvs_p": null,
"transcript": "ENST00000551748.5",
"protein_id": "ENSP00000447306.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": -4,
"cds_end": null,
"cds_length": 283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.-100-28407G>A",
"hgvs_p": null,
"transcript": "ENST00000547686.5",
"protein_id": "ENSP00000449705.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": -4,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.-140+71757G>A",
"hgvs_p": null,
"transcript": "ENST00000546703.5",
"protein_id": "ENSP00000446556.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": -4,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.-140+37772G>A",
"hgvs_p": null,
"transcript": "ENST00000549736.5",
"protein_id": "ENSP00000446789.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 38,
"cds_start": -4,
"cds_end": null,
"cds_length": 119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.-140+37772G>A",
"hgvs_p": null,
"transcript": "ENST00000546426.5",
"protein_id": "ENSP00000447639.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 11,
"cds_start": -4,
"cds_end": null,
"cds_length": 37,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"dbsnp": "rs10492018",
"frequency_reference_population": 0.32017082,
"hom_count_reference_population": 8092,
"allele_count_reference_population": 48657,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.320171,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 48657,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 8092,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.196,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_001347952.2",
"gene_symbol": "RPH3A",
"hgnc_id": 17056,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-139-102544G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}