← 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: 1-229602423-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=229602423&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 229602423,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000258281.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF5L",
"gene_hgnc_id": 17304,
"hgvs_c": "c.744A>C",
"hgvs_p": "p.Arg248Arg",
"transcript": "NM_014409.4",
"protein_id": "NP_055224.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 589,
"cds_start": 744,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": "ENST00000258281.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF5L",
"gene_hgnc_id": 17304,
"hgvs_c": "c.744A>C",
"hgvs_p": "p.Arg248Arg",
"transcript": "ENST00000258281.7",
"protein_id": "ENSP00000258281.2",
"transcript_support_level": 5,
"aa_start": 248,
"aa_end": null,
"aa_length": 589,
"cds_start": 744,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": "NM_014409.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF5L",
"gene_hgnc_id": 17304,
"hgvs_c": "c.744A>C",
"hgvs_p": "p.Arg248Arg",
"transcript": "ENST00000366675.3",
"protein_id": "ENSP00000355635.3",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 325,
"cds_start": 744,
"cds_end": null,
"cds_length": 978,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF5L",
"gene_hgnc_id": 17304,
"hgvs_c": "c.744A>C",
"hgvs_p": "p.Arg248Arg",
"transcript": "NM_001025247.2",
"protein_id": "NP_001020418.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 325,
"cds_start": 744,
"cds_end": null,
"cds_length": 978,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF5L",
"gene_hgnc_id": 17304,
"hgvs_c": "c.744A>C",
"hgvs_p": "p.Arg248Arg",
"transcript": "XM_005273099.5",
"protein_id": "XP_005273156.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 589,
"cds_start": 744,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF5L",
"gene_hgnc_id": 17304,
"hgvs_c": "c.531A>C",
"hgvs_p": "p.Arg177Arg",
"transcript": "XM_011544162.2",
"protein_id": "XP_011542464.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 518,
"cds_start": 531,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF5L",
"gene_hgnc_id": 17304,
"hgvs_c": "c.468A>C",
"hgvs_p": "p.Arg156Arg",
"transcript": "XM_011544164.3",
"protein_id": "XP_011542466.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 497,
"cds_start": 468,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF5L",
"gene_hgnc_id": 17304,
"hgvs_c": "c.468A>C",
"hgvs_p": "p.Arg156Arg",
"transcript": "XM_047417996.1",
"protein_id": "XP_047273952.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 497,
"cds_start": 468,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF5L",
"gene_hgnc_id": 17304,
"hgvs_c": "c.468A>C",
"hgvs_p": "p.Arg156Arg",
"transcript": "XM_047417997.1",
"protein_id": "XP_047273953.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 497,
"cds_start": 468,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAF5L",
"gene_hgnc_id": 17304,
"dbsnp": "rs3753886",
"frequency_reference_population": 0.5274771,
"hom_count_reference_population": 227411,
"allele_count_reference_population": 851233,
"gnomad_exomes_af": 0.526683,
"gnomad_genomes_af": 0.535121,
"gnomad_exomes_ac": 769932,
"gnomad_genomes_ac": 81301,
"gnomad_exomes_homalt": 205403,
"gnomad_genomes_homalt": 22008,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.829,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000258281.7",
"gene_symbol": "TAF5L",
"hgnc_id": 17304,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.744A>C",
"hgvs_p": "p.Arg248Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}