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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: 17-40083899-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40083899&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40083899,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_199334.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe",
"transcript": "NM_199334.5",
"protein_id": "NP_955366.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 410,
"cds_start": 287,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": "ENST00000450525.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe",
"transcript": "ENST00000450525.7",
"protein_id": "ENSP00000395641.3",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 410,
"cds_start": 287,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": "NM_199334.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe",
"transcript": "ENST00000264637.8",
"protein_id": "ENSP00000264637.4",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 490,
"cds_start": 287,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe",
"transcript": "ENST00000584985.5",
"protein_id": "ENSP00000463466.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 451,
"cds_start": 287,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe",
"transcript": "NM_001190919.2",
"protein_id": "NP_001177848.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 490,
"cds_start": 287,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe",
"transcript": "NM_003250.6",
"protein_id": "NP_003241.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 490,
"cds_start": 287,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe",
"transcript": "ENST00000394121.8",
"protein_id": "ENSP00000377679.4",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 490,
"cds_start": 287,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe",
"transcript": "NM_001190918.2",
"protein_id": "NP_001177847.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 451,
"cds_start": 287,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe",
"transcript": "ENST00000546243.5",
"protein_id": "ENSP00000443972.1",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 410,
"cds_start": 287,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe",
"transcript": "XM_047436632.1",
"protein_id": "XP_047292588.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 410,
"cds_start": 287,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.*33G>T",
"hgvs_p": null,
"transcript": "ENST00000578218.5",
"protein_id": "ENSP00000464123.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"dbsnp": "rs766183764",
"frequency_reference_population": 0.0000061962014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615726,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5013401508331299,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.566,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3339,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.736,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_199334.5",
"gene_symbol": "THRA",
"hgnc_id": 11796,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.287G>T",
"hgvs_p": "p.Cys96Phe"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}