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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: 7-44516100-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44516100&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44516100,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000381160.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3617T>A",
"hgvs_p": "p.Ile1206Asn",
"transcript": "NM_001101648.2",
"protein_id": "NP_001095118.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3688,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": "ENST00000381160.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3617T>A",
"hgvs_p": "p.Ile1206Asn",
"transcript": "ENST00000381160.8",
"protein_id": "ENSP00000370552.3",
"transcript_support_level": 1,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3688,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": "NM_001101648.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3698T>A",
"hgvs_p": "p.Ile1233Asn",
"transcript": "ENST00000289547.8",
"protein_id": "ENSP00000289547.4",
"transcript_support_level": 1,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3698,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3754,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3479T>A",
"hgvs_p": "p.Ile1160Asn",
"transcript": "ENST00000546276.5",
"protein_id": "ENSP00000438033.1",
"transcript_support_level": 1,
"aa_start": 1160,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3479,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3535,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3698T>A",
"hgvs_p": "p.Ile1233Asn",
"transcript": "NM_013389.3",
"protein_id": "NP_037521.2",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3698,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3769,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.3422T>A",
"hgvs_p": "p.Ile1141Asn",
"transcript": "XM_011515326.4",
"protein_id": "XP_011513628.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"hgvs_c": "c.1976T>A",
"hgvs_p": "p.Ile659Asn",
"transcript": "XM_011515328.3",
"protein_id": "XP_011513630.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 785,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NPC1L1",
"gene_hgnc_id": 7898,
"dbsnp": "rs52815063",
"frequency_reference_population": 0.011748368,
"hom_count_reference_population": 148,
"allele_count_reference_population": 18941,
"gnomad_exomes_af": 0.0121634,
"gnomad_genomes_af": 0.00776889,
"gnomad_exomes_ac": 17758,
"gnomad_genomes_ac": 1183,
"gnomad_exomes_homalt": 141,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007307082414627075,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.274,
"revel_prediction": "Benign",
"alphamissense_score": 0.3858,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.963,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000381160.8",
"gene_symbol": "NPC1L1",
"hgnc_id": 7898,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3617T>A",
"hgvs_p": "p.Ile1206Asn"
}
],
"clinvar_disease": "Ezetimibe response,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Ezetimibe response|not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}