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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: 16-14852478-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=14852478&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 14852478,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014287.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "NM_014287.4",
"protein_id": "NP_055102.3",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1222,
"cds_start": 631,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287667.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014287.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "ENST00000287667.12",
"protein_id": "ENSP00000287667.7",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 1222,
"cds_start": 631,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014287.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287667.12"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "ENST00000880310.1",
"protein_id": "ENSP00000550369.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1228,
"cds_start": 631,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880310.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "ENST00000924494.1",
"protein_id": "ENSP00000594553.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1226,
"cds_start": 631,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924494.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "ENST00000924493.1",
"protein_id": "ENSP00000594552.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1220,
"cds_start": 631,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924493.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "ENST00000924492.1",
"protein_id": "ENSP00000594551.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1215,
"cds_start": 631,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924492.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "ENST00000959860.1",
"protein_id": "ENSP00000629919.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1194,
"cds_start": 631,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959860.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "ENST00000880311.1",
"protein_id": "ENSP00000550370.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1182,
"cds_start": 631,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880311.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Pro151Ser",
"transcript": "ENST00000880312.1",
"protein_id": "ENSP00000550371.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1162,
"cds_start": 451,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880312.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "ENST00000924495.1",
"protein_id": "ENSP00000594554.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 1149,
"cds_start": 631,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924495.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "ENST00000924491.1",
"protein_id": "ENSP00000594550.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 905,
"cds_start": 631,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924491.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"hgvs_c": "n.306C>T",
"hgvs_p": null,
"transcript": "ENST00000566720.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000566720.5"
}
],
"gene_symbol": "NOMO1",
"gene_hgnc_id": 30060,
"dbsnp": "rs1963773525",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11736670136451721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.0762,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.951,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014287.4",
"gene_symbol": "NOMO1",
"hgnc_id": 30060,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}