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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: 11-45806113-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45806113&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45806113,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018389.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Phe104Leu",
"transcript": "NM_018389.5",
"protein_id": "NP_060859.4",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 364,
"cds_start": 312,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314134.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018389.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Phe104Leu",
"transcript": "ENST00000314134.4",
"protein_id": "ENSP00000313318.3",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 364,
"cds_start": 312,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018389.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314134.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.273C>A",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000442528.2",
"protein_id": "ENSP00000412408.2",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 351,
"cds_start": 273,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442528.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Phe104Leu",
"transcript": "NM_001425155.1",
"protein_id": "NP_001412084.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 364,
"cds_start": 312,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425155.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Phe104Leu",
"transcript": "ENST00000953729.1",
"protein_id": "ENSP00000623788.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 364,
"cds_start": 312,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953729.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.273C>A",
"hgvs_p": "p.Phe91Leu",
"transcript": "NM_001145265.2",
"protein_id": "NP_001138737.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 351,
"cds_start": 273,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145265.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.273C>A",
"hgvs_p": "p.Phe91Leu",
"transcript": "NM_001145266.2",
"protein_id": "NP_001138738.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 351,
"cds_start": 273,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145266.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.273C>A",
"hgvs_p": "p.Phe91Leu",
"transcript": "NM_001425156.1",
"protein_id": "NP_001412085.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 351,
"cds_start": 273,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425156.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.273C>A",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000526817.2",
"protein_id": "ENSP00000432145.2",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 351,
"cds_start": 273,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526817.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.273C>A",
"hgvs_p": "p.Phe91Leu",
"transcript": "ENST00000530471.1",
"protein_id": "ENSP00000432669.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 164,
"cds_start": 273,
"cds_end": null,
"cds_length": 496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530471.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Phe104Leu",
"transcript": "XM_011520203.4",
"protein_id": "XP_011518505.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 192,
"cds_start": 312,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520203.4"
}
],
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"dbsnp": "rs75224835",
"frequency_reference_population": 0.000006566333,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656633,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30699872970581055,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.167,
"revel_prediction": "Benign",
"alphamissense_score": 0.9388,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.112,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018389.5",
"gene_symbol": "SLC35C1",
"hgnc_id": 20197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.312C>A",
"hgvs_p": "p.Phe104Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}