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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: 7-44515600-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44515600&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44515600,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000381160.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3796+203T>G",
"hgvs_p": null,
"transcript": "NM_001101648.2",
"protein_id": "NP_001095118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1332,
"cds_start": -4,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": "ENST00000381160.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3796+203T>G",
"hgvs_p": null,
"transcript": "ENST00000381160.8",
"protein_id": "ENSP00000370552.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1332,
"cds_start": -4,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": "NM_001101648.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3877+203T>G",
"hgvs_p": null,
"transcript": "ENST00000289547.8",
"protein_id": "ENSP00000289547.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1359,
"cds_start": -4,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3658+203T>G",
"hgvs_p": null,
"transcript": "ENST00000546276.5",
"protein_id": "ENSP00000438033.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1286,
"cds_start": -4,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3877+203T>G",
"hgvs_p": null,
"transcript": "NM_013389.3",
"protein_id": "NP_037521.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1359,
"cds_start": -4,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3601+203T>G",
"hgvs_p": null,
"transcript": "XM_011515326.4",
"protein_id": "XP_011513628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1267,
"cds_start": -4,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.2155+203T>G",
"hgvs_p": null,
"transcript": "XM_011515328.3",
"protein_id": "XP_011513630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"dbsnp": "rs217429",
"frequency_reference_population": 0.20271106,
"hom_count_reference_population": 3415,
"allele_count_reference_population": 30836,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.202711,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 30836,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3415,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.03,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.87,
"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": -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": "ENST00000381160.8",
"gene_symbol": "NPC1L1",
"hgnc_id": 7898,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3796+203T>G",
"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
}