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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: 7-99892714-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99892714&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99892714,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_033017.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "NM_033091.3",
"protein_id": "NP_149082.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 474,
"cds_start": 874,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349062.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033091.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000349062.7",
"protein_id": "ENSP00000275736.4",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 474,
"cds_start": 874,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033091.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349062.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.952C>G",
"hgvs_p": "p.Pro318Ala",
"transcript": "ENST00000355947.6",
"protein_id": "ENSP00000348216.2",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 500,
"cds_start": 952,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355947.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.952C>G",
"hgvs_p": "p.Pro318Ala",
"transcript": "NM_033017.4",
"protein_id": "NP_148977.2",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 500,
"cds_start": 952,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033017.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.892C>G",
"hgvs_p": "p.Pro298Ala",
"transcript": "ENST00000953520.1",
"protein_id": "ENSP00000623579.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 480,
"cds_start": 892,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953520.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.871C>G",
"hgvs_p": "p.Pro291Ala",
"transcript": "ENST00000953518.1",
"protein_id": "ENSP00000623577.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 473,
"cds_start": 871,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953518.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.871C>G",
"hgvs_p": "p.Pro291Ala",
"transcript": "ENST00000953519.1",
"protein_id": "ENSP00000623578.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 473,
"cds_start": 871,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953519.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.784C>G",
"hgvs_p": "p.Pro262Ala",
"transcript": "ENST00000904368.1",
"protein_id": "ENSP00000574427.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 444,
"cds_start": 784,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904368.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.781C>G",
"hgvs_p": "p.Pro261Ala",
"transcript": "ENST00000953521.1",
"protein_id": "ENSP00000623580.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 443,
"cds_start": 781,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953521.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.643C>G",
"hgvs_p": "p.Pro215Ala",
"transcript": "ENST00000904369.1",
"protein_id": "ENSP00000574428.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 397,
"cds_start": 643,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904369.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRIM4",
"gene_hgnc_id": 16275,
"hgvs_c": "c.544+10504C>G",
"hgvs_p": null,
"transcript": "ENST00000447480.5",
"protein_id": "ENSP00000396229.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447480.5"
}
],
"gene_symbol": "TRIM4",
"gene_hgnc_id": 16275,
"dbsnp": "rs267601667",
"frequency_reference_population": 0.000013132494,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131325,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19627338647842407,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.1929,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.687,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033017.4",
"gene_symbol": "TRIM4",
"hgnc_id": 16275,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.952C>G",
"hgvs_p": "p.Pro318Ala"
}
],
"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
}