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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: 6-25813202-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=25813202&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 25813202,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005074.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.628T>C",
"hgvs_p": "p.Cys210Arg",
"transcript": "NM_005074.5",
"protein_id": "NP_005065.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 467,
"cds_start": 628,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": "ENST00000244527.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.628T>C",
"hgvs_p": "p.Cys210Arg",
"transcript": "ENST00000244527.10",
"protein_id": "ENSP00000244527.4",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 467,
"cds_start": 628,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": "NM_005074.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.628T>C",
"hgvs_p": "p.Cys210Arg",
"transcript": "ENST00000468082.1",
"protein_id": "ENSP00000420546.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 413,
"cds_start": 628,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.628T>C",
"hgvs_p": "p.Cys210Arg",
"transcript": "ENST00000476801.5",
"protein_id": "ENSP00000420614.1",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 467,
"cds_start": 628,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.628T>C",
"hgvs_p": "p.Cys210Arg",
"transcript": "XM_017011199.2",
"protein_id": "XP_016866688.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 467,
"cds_start": 628,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.628T>C",
"hgvs_p": "p.Cys210Arg",
"transcript": "XM_017011201.3",
"protein_id": "XP_016866690.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 467,
"cds_start": 628,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.628T>C",
"hgvs_p": "p.Cys210Arg",
"transcript": "XM_011514818.3",
"protein_id": "XP_011513120.3",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 449,
"cds_start": 628,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Cys181Arg",
"transcript": "XM_011514819.3",
"protein_id": "XP_011513121.3",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 438,
"cds_start": 541,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.628T>C",
"hgvs_p": "p.Cys210Arg",
"transcript": "XM_011514820.3",
"protein_id": "XP_011513122.3",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 413,
"cds_start": 628,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.415T>C",
"hgvs_p": "p.Cys139Arg",
"transcript": "XM_011514821.3",
"protein_id": "XP_011513123.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 396,
"cds_start": 415,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "n.617-210T>C",
"hgvs_p": null,
"transcript": "ENST00000377886.6",
"protein_id": "ENSP00000367118.2",
"transcript_support_level": 5,
"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": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"dbsnp": "rs754443994",
"frequency_reference_population": 6.841658e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84166e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.961055338382721,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.335,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9409,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.334,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005074.5",
"gene_symbol": "SLC17A1",
"hgnc_id": 10929,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.628T>C",
"hgvs_p": "p.Cys210Arg"
}
],
"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
}