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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: 6-25983199-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=25983199&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 25983199,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_006355.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Glu304*",
"transcript": "NM_006355.5",
"protein_id": "NP_006346.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 465,
"cds_start": 910,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 9418,
"mane_select": "ENST00000357085.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006355.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Glu304*",
"transcript": "ENST00000357085.5",
"protein_id": "ENSP00000349596.2",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 465,
"cds_start": 910,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 9418,
"mane_select": "NM_006355.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357085.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Glu304*",
"transcript": "ENST00000859133.1",
"protein_id": "ENSP00000529192.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 465,
"cds_start": 910,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859133.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Glu304*",
"transcript": "ENST00000859134.1",
"protein_id": "ENSP00000529193.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 465,
"cds_start": 910,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859134.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Glu304*",
"transcript": "ENST00000859136.1",
"protein_id": "ENSP00000529195.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 465,
"cds_start": 910,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859136.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Glu304*",
"transcript": "ENST00000859139.1",
"protein_id": "ENSP00000529198.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 465,
"cds_start": 910,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859139.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Glu304*",
"transcript": "ENST00000859140.1",
"protein_id": "ENSP00000529199.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 465,
"cds_start": 910,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859140.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Glu304*",
"transcript": "ENST00000859141.1",
"protein_id": "ENSP00000529200.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 465,
"cds_start": 910,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859141.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Glu303*",
"transcript": "ENST00000961974.1",
"protein_id": "ENSP00000632033.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 464,
"cds_start": 907,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961974.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Glu289*",
"transcript": "ENST00000859138.1",
"protein_id": "ENSP00000529197.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 450,
"cds_start": 865,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859138.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Glu286*",
"transcript": "ENST00000859135.1",
"protein_id": "ENSP00000529194.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 447,
"cds_start": 856,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859135.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Glu286*",
"transcript": "ENST00000859137.1",
"protein_id": "ENSP00000529196.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 447,
"cds_start": 856,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859137.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Glu286*",
"transcript": "ENST00000934128.1",
"protein_id": "ENSP00000604187.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 447,
"cds_start": 856,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934128.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"hgvs_c": "c.814G>T",
"hgvs_p": "p.Glu272*",
"transcript": "ENST00000961975.1",
"protein_id": "ENSP00000632034.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 433,
"cds_start": 814,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961975.1"
}
],
"gene_symbol": "TRIM38",
"gene_hgnc_id": 10059,
"dbsnp": "rs146076775",
"frequency_reference_population": 6.8631635e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86316e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2800000011920929,
"computational_prediction_selected": "Pathogenic",
"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": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -1.803,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006355.5",
"gene_symbol": "TRIM38",
"hgnc_id": 10059,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Glu304*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}