← 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: 19-58548362-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58548362&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58548362,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000253024.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM28",
"gene_hgnc_id": 16384,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Lys390Lys",
"transcript": "NM_005762.3",
"protein_id": "NP_005753.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 835,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": "ENST00000253024.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM28",
"gene_hgnc_id": 16384,
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Lys390Lys",
"transcript": "ENST00000253024.10",
"protein_id": "ENSP00000253024.4",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 835,
"cds_start": 1170,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": "NM_005762.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM28",
"gene_hgnc_id": 16384,
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Lys308Lys",
"transcript": "ENST00000341753.10",
"protein_id": "ENSP00000342232.5",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 753,
"cds_start": 924,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 2709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM28",
"gene_hgnc_id": 16384,
"hgvs_c": "c.69G>A",
"hgvs_p": "p.Lys23Lys",
"transcript": "ENST00000597136.1",
"protein_id": "ENSP00000471303.1",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 460,
"cds_start": 69,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 69,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM28",
"gene_hgnc_id": 16384,
"hgvs_c": "n.486G>A",
"hgvs_p": null,
"transcript": "ENST00000597172.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM28",
"gene_hgnc_id": 16384,
"hgvs_c": "n.361G>A",
"hgvs_p": null,
"transcript": "ENST00000597995.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM28",
"gene_hgnc_id": 16384,
"hgvs_c": "n.354G>A",
"hgvs_p": null,
"transcript": "ENST00000601150.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM28",
"gene_hgnc_id": 16384,
"hgvs_c": "n.*190G>A",
"hgvs_p": null,
"transcript": "ENST00000597423.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "TRIM28",
"gene_hgnc_id": 16384,
"dbsnp": "rs2305120",
"frequency_reference_population": 0.07960537,
"hom_count_reference_population": 7084,
"allele_count_reference_population": 128488,
"gnomad_exomes_af": 0.0790904,
"gnomad_genomes_af": 0.0845496,
"gnomad_exomes_ac": 115616,
"gnomad_genomes_ac": 12872,
"gnomad_exomes_homalt": 6380,
"gnomad_genomes_homalt": 704,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"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": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.126,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000253024.10",
"gene_symbol": "TRIM28",
"hgnc_id": 16384,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Lys390Lys"
}
],
"clinvar_disease": "TRIM28-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|TRIM28-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}