← Back to variant description
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: 11-45805889-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45805889&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45805889,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000314134.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"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.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "NM_018389.5",
"protein_id": "NP_060859.4",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 364,
"cds_start": 88,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": "ENST00000314134.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "ENST00000314134.4",
"protein_id": "ENSP00000313318.3",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 364,
"cds_start": 88,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": "NM_018389.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.49G>C",
"hgvs_p": "p.Gly17Arg",
"transcript": "ENST00000442528.2",
"protein_id": "ENSP00000412408.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 351,
"cds_start": 49,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "NM_001425155.1",
"protein_id": "NP_001412084.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 364,
"cds_start": 88,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.49G>C",
"hgvs_p": "p.Gly17Arg",
"transcript": "NM_001145265.2",
"protein_id": "NP_001138737.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 351,
"cds_start": 49,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.49G>C",
"hgvs_p": "p.Gly17Arg",
"transcript": "NM_001145266.2",
"protein_id": "NP_001138738.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 351,
"cds_start": 49,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.49G>C",
"hgvs_p": "p.Gly17Arg",
"transcript": "NM_001425156.1",
"protein_id": "NP_001412085.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 351,
"cds_start": 49,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.49G>C",
"hgvs_p": "p.Gly17Arg",
"transcript": "ENST00000526817.2",
"protein_id": "ENSP00000432145.2",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 351,
"cds_start": 49,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.49G>C",
"hgvs_p": "p.Gly17Arg",
"transcript": "ENST00000530471.1",
"protein_id": "ENSP00000432669.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 164,
"cds_start": 49,
"cds_end": null,
"cds_length": 496,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.88G>C",
"hgvs_p": "p.Gly30Arg",
"transcript": "XM_011520203.4",
"protein_id": "XP_011518505.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 192,
"cds_start": 88,
"cds_end": null,
"cds_length": 579,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINC02690",
"gene_hgnc_id": 54194,
"hgvs_c": "n.-215C>G",
"hgvs_p": null,
"transcript": "ENST00000811651.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC35C1",
"gene_hgnc_id": 20197,
"dbsnp": "rs761945760",
"frequency_reference_population": 0.0000013681275,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136813,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05312907695770264,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0736,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.395,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000314134.4",
"gene_symbol": "SLC35C1",
"hgnc_id": 20197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.88G>C",
"hgvs_p": "p.Gly30Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000811651.1",
"gene_symbol": "LINC02690",
"hgnc_id": 54194,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-215C>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
}