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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: 20-388261-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=388261&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 388261,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000217233.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "NM_021158.5",
"protein_id": "NP_066981.2",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": "ENST00000217233.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "ENST00000217233.9",
"protein_id": "ENSP00000217233.3",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": "NM_021158.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Gln111Arg",
"transcript": "NM_001301201.1",
"protein_id": "NP_001288130.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 385,
"cds_start": 332,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Gln111Arg",
"transcript": "ENST00000422053.3",
"protein_id": "ENSP00000415416.2",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 385,
"cds_start": 332,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "NM_001301188.1",
"protein_id": "NP_001288117.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "NM_001301190.1",
"protein_id": "NP_001288119.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "NM_001301193.1",
"protein_id": "NP_001288122.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "NM_001301196.1",
"protein_id": "NP_001288125.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "ENST00000449710.6",
"protein_id": "ENSP00000391873.2",
"transcript_support_level": 5,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "ENST00000615226.5",
"protein_id": "ENSP00000478194.2",
"transcript_support_level": 3,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "ENST00000714424.1",
"protein_id": "ENSP00000519693.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "ENST00000714425.1",
"protein_id": "ENSP00000519694.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "ENST00000714427.1",
"protein_id": "ENSP00000519696.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "ENST00000714428.1",
"protein_id": "ENSP00000519697.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 358,
"cds_start": 251,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "ENST00000714426.1",
"protein_id": "ENSP00000519695.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 115,
"cds_start": 251,
"cds_end": null,
"cds_length": 348,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIB3",
"gene_hgnc_id": 16228,
"dbsnp": "rs2295490",
"frequency_reference_population": 0.17129675,
"hom_count_reference_population": 26855,
"allele_count_reference_population": 276302,
"gnomad_exomes_af": 0.171962,
"gnomad_genomes_af": 0.164917,
"gnomad_exomes_ac": 251193,
"gnomad_genomes_ac": 25109,
"gnomad_exomes_homalt": 24591,
"gnomad_genomes_homalt": 2264,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004573076963424683,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.0458,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.052,
"phylop100way_prediction": "Uncertain_significance",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000217233.9",
"gene_symbol": "TRIB3",
"hgnc_id": 16228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}