← 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: 1-228394761-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228394761&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRIM11",
"hgnc_id": 16281,
"hgvs_c": "c.1351C>A",
"hgvs_p": "p.Pro451Thr",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_145214.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TRIM11-AS1",
"hgnc_id": 58336,
"hgvs_c": "n.159+313G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000602963.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1786,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.35688111186027527,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 468,
"aa_ref": "P",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_145214.3",
"gene_hgnc_id": 16281,
"gene_symbol": "TRIM11",
"hgvs_c": "c.1351C>A",
"hgvs_p": "p.Pro451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000284551.11",
"protein_coding": true,
"protein_id": "NP_660215.1",
"strand": false,
"transcript": "NM_145214.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 468,
"aa_ref": "P",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000284551.11",
"gene_hgnc_id": 16281,
"gene_symbol": "TRIM11",
"hgvs_c": "c.1351C>A",
"hgvs_p": "p.Pro451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145214.3",
"protein_coding": true,
"protein_id": "ENSP00000284551.6",
"strand": false,
"transcript": "ENST00000284551.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 343,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5774,
"cdna_start": 4686,
"cds_end": null,
"cds_length": 1032,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000493030.6",
"gene_hgnc_id": 16281,
"gene_symbol": "TRIM11",
"hgvs_c": "c.976C>A",
"hgvs_p": "p.Pro326Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473360.1",
"strand": false,
"transcript": "ENST00000493030.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000946665.1",
"gene_hgnc_id": 16281,
"gene_symbol": "TRIM11",
"hgvs_c": "c.1396C>A",
"hgvs_p": "p.Pro466Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616724.1",
"strand": false,
"transcript": "ENST00000946665.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 467,
"aa_ref": "P",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1348,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854560.1",
"gene_hgnc_id": 16281,
"gene_symbol": "TRIM11",
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Pro450Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524619.1",
"strand": false,
"transcript": "ENST00000854560.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933006.1",
"gene_hgnc_id": 16281,
"gene_symbol": "TRIM11",
"hgvs_c": "c.1024C>A",
"hgvs_p": "p.Pro342Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603065.1",
"strand": false,
"transcript": "ENST00000933006.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 467,
"aa_ref": "P",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1348,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017002412.3",
"gene_hgnc_id": 16281,
"gene_symbol": "TRIM11",
"hgvs_c": "c.1348C>A",
"hgvs_p": "p.Pro450Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857901.1",
"strand": false,
"transcript": "XM_017002412.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 391,
"aa_ref": "P",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011544285.4",
"gene_hgnc_id": 16281,
"gene_symbol": "TRIM11",
"hgvs_c": "c.1120C>A",
"hgvs_p": "p.Pro374Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542587.1",
"strand": false,
"transcript": "XM_011544285.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 480,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602963.1",
"gene_hgnc_id": 58336,
"gene_symbol": "TRIM11-AS1",
"hgvs_c": "n.159+313G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000602963.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 851,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000839927.1",
"gene_hgnc_id": 58336,
"gene_symbol": "TRIM11-AS1",
"hgvs_c": "n.142+313G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000839927.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 480,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_199157.1",
"gene_hgnc_id": 58336,
"gene_symbol": "TRIM11-AS1",
"hgvs_c": "n.159+313G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_199157.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 682,
"cdna_start": null,
"cds_end": null,
"cds_length": 681,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602582.5",
"gene_hgnc_id": 16281,
"gene_symbol": "TRIM11",
"hgvs_c": "c.*64C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473574.1",
"strand": true,
"transcript": "ENST00000602582.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs775433961",
"effect": "missense_variant",
"frequency_reference_population": 6.842922e-7,
"gene_hgnc_id": 16281,
"gene_symbol": "TRIM11",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84292e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.336,
"pos": 228394761,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.408,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_145214.3"
}
]
}