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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: 7-44513639-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44513639&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44513639,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_013389.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3807T>C",
"hgvs_p": "p.Val1269Val",
"transcript": "NM_001101648.2",
"protein_id": "NP_001095118.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3807,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381160.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001101648.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3807T>C",
"hgvs_p": "p.Val1269Val",
"transcript": "ENST00000381160.8",
"protein_id": "ENSP00000370552.3",
"transcript_support_level": 1,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3807,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001101648.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381160.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3888T>C",
"hgvs_p": "p.Val1296Val",
"transcript": "ENST00000289547.8",
"protein_id": "ENSP00000289547.4",
"transcript_support_level": 1,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3888,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289547.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3669T>C",
"hgvs_p": "p.Val1223Val",
"transcript": "ENST00000546276.5",
"protein_id": "ENSP00000438033.1",
"transcript_support_level": 1,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3669,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546276.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3888T>C",
"hgvs_p": "p.Val1296Val",
"transcript": "NM_013389.3",
"protein_id": "NP_037521.2",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3888,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013389.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3759T>C",
"hgvs_p": "p.Val1253Val",
"transcript": "ENST00000865306.1",
"protein_id": "ENSP00000535365.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3759,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865306.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3612T>C",
"hgvs_p": "p.Val1204Val",
"transcript": "ENST00000865305.1",
"protein_id": "ENSP00000535364.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865305.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3612T>C",
"hgvs_p": "p.Val1204Val",
"transcript": "XM_011515326.4",
"protein_id": "XP_011513628.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515326.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.2166T>C",
"hgvs_p": "p.Val722Val",
"transcript": "XM_011515328.3",
"protein_id": "XP_011513630.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 785,
"cds_start": 2166,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515328.3"
}
],
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"dbsnp": "rs217434",
"frequency_reference_population": 0.1869289,
"hom_count_reference_population": 29821,
"allele_count_reference_population": 301452,
"gnomad_exomes_af": 0.188526,
"gnomad_genomes_af": 0.171598,
"gnomad_exomes_ac": 275342,
"gnomad_genomes_ac": 26110,
"gnomad_exomes_homalt": 27395,
"gnomad_genomes_homalt": 2426,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.508,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_013389.3",
"gene_symbol": "NPC1L1",
"hgnc_id": 7898,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3888T>C",
"hgvs_p": "p.Val1296Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}