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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: 13-28062045-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=28062045&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 28062045,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004119.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Gly64Arg",
"transcript": "NM_004119.3",
"protein_id": "NP_004110.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 993,
"cds_start": 190,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000241453.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004119.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Gly64Arg",
"transcript": "ENST00000241453.12",
"protein_id": "ENSP00000241453.7",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 993,
"cds_start": 190,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004119.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000241453.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "n.190G>A",
"hgvs_p": null,
"transcript": "ENST00000380987.2",
"protein_id": "ENSP00000370374.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000380987.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Gly64Arg",
"transcript": "ENST00000864668.1",
"protein_id": "ENSP00000534727.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 718,
"cds_start": 190,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864668.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Gly45Arg",
"transcript": "XM_011535015.3",
"protein_id": "XP_011533317.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 974,
"cds_start": 133,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535015.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Gly64Arg",
"transcript": "XM_017020486.2",
"protein_id": "XP_016875975.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 921,
"cds_start": 190,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020486.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"hgvs_c": "n.256G>A",
"hgvs_p": null,
"transcript": "NR_130706.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_130706.2"
}
],
"gene_symbol": "FLT3",
"gene_hgnc_id": 3765,
"dbsnp": "rs376895552",
"frequency_reference_population": 0.000041559048,
"hom_count_reference_population": 1,
"allele_count_reference_population": 67,
"gnomad_exomes_af": 0.0000383533,
"gnomad_genomes_af": 0.0000723418,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01744595170021057,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.1144,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.91,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004119.3",
"gene_symbol": "FLT3",
"hgnc_id": 3765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Gly64Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}