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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: 1-223111102-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=223111102&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 223111102,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003268.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "NM_003268.6",
"protein_id": "NP_003259.2",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 4235,
"mane_select": "ENST00000642603.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "ENST00000642603.2",
"protein_id": "ENSP00000496355.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 4235,
"mane_select": "NM_003268.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "NM_001437539.1",
"protein_id": "NP_001424468.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "NM_001437624.1",
"protein_id": "NP_001424553.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "NM_001437650.1",
"protein_id": "NP_001424579.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "NM_001437651.1",
"protein_id": "NP_001424580.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2451,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "ENST00000407096.7",
"protein_id": "ENSP00000385458.3",
"transcript_support_level": 3,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "ENST00000484766.2",
"protein_id": "ENSP00000519510.1",
"transcript_support_level": 3,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2629,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "ENST00000645434.2",
"protein_id": "ENSP00000493892.2",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2451,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "ENST00000714229.1",
"protein_id": "ENSP00000519509.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2559,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "XM_005273243.5",
"protein_id": "XP_005273300.2",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "XM_006711504.4",
"protein_id": "XP_006711567.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 4127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "XM_006711506.4",
"protein_id": "XP_006711569.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "XM_011509937.3",
"protein_id": "XP_011508239.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2545,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "XM_047429361.1",
"protein_id": "XP_047285317.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 4380,
"cdna_end": null,
"cdna_length": 6078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe",
"transcript": "XM_047429367.1",
"protein_id": "XP_047285323.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 858,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 3050,
"cdna_end": null,
"cdna_length": 4748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299361",
"gene_hgnc_id": null,
"hgvs_c": "n.454+249T>A",
"hgvs_p": null,
"transcript": "ENST00000762835.1",
"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": 733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TLR5",
"gene_hgnc_id": 11851,
"dbsnp": "rs5744175",
"frequency_reference_population": 0.0087274425,
"hom_count_reference_population": 81,
"allele_count_reference_population": 14087,
"gnomad_exomes_af": 0.00884274,
"gnomad_genomes_af": 0.00762025,
"gnomad_exomes_ac": 12927,
"gnomad_genomes_ac": 1160,
"gnomad_exomes_homalt": 76,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004293859004974365,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.1013,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.818,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003268.6",
"gene_symbol": "TLR5",
"hgnc_id": 11851,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1930A>T",
"hgvs_p": "p.Ile644Phe"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000762835.1",
"gene_symbol": "ENSG00000299361",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.454+249T>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}