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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: 1-228401056-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228401056&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 228401056,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145214.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Ala215Thr",
"transcript": "NM_145214.3",
"protein_id": "NP_660215.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 468,
"cds_start": 643,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000284551.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145214.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Ala215Thr",
"transcript": "ENST00000284551.11",
"protein_id": "ENSP00000284551.6",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 468,
"cds_start": 643,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145214.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284551.11"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Ala90Thr",
"transcript": "ENST00000493030.6",
"protein_id": "ENSP00000473360.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 343,
"cds_start": 268,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493030.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Ala215Thr",
"transcript": "ENST00000946665.1",
"protein_id": "ENSP00000616724.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 483,
"cds_start": 643,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946665.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000854560.1",
"protein_id": "ENSP00000524619.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 467,
"cds_start": 640,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854560.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Ala215Thr",
"transcript": "ENST00000366699.3",
"protein_id": "ENSP00000355660.3",
"transcript_support_level": 2,
"aa_start": 215,
"aa_end": null,
"aa_length": 385,
"cds_start": 643,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366699.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "XM_017002412.3",
"protein_id": "XP_016857901.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 467,
"cds_start": 640,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002412.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.409-3891G>A",
"hgvs_p": null,
"transcript": "ENST00000933006.1",
"protein_id": "ENSP00000603065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933006.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.129+1010G>A",
"hgvs_p": null,
"transcript": "ENST00000602582.5",
"protein_id": "ENSP00000473574.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602582.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.34-3891G>A",
"hgvs_p": null,
"transcript": "ENST00000602308.1",
"protein_id": "ENSP00000473579.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": null,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602308.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"hgvs_c": "c.504+1010G>A",
"hgvs_p": null,
"transcript": "XM_011544285.4",
"protein_id": "XP_011542587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544285.4"
}
],
"gene_symbol": "TRIM11",
"gene_hgnc_id": 16281,
"dbsnp": "rs558730848",
"frequency_reference_population": 0.000030387786,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000171215,
"gnomad_genomes_af": 0.000157542,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02976861596107483,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.01,
"revel_prediction": "Benign",
"alphamissense_score": 0.0889,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.169,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_145214.3",
"gene_symbol": "TRIM11",
"hgnc_id": 16281,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Ala215Thr"
}
],
"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
}