← 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: 17-40077581-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40077581&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40077581,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_199334.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "NM_199334.5",
"protein_id": "NP_955366.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 410,
"cds_start": 195,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": "ENST00000450525.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "ENST00000450525.7",
"protein_id": "ENSP00000395641.3",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 410,
"cds_start": 195,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": "NM_199334.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "ENST00000264637.8",
"protein_id": "ENSP00000264637.4",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 490,
"cds_start": 195,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "ENST00000584985.5",
"protein_id": "ENSP00000463466.1",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 451,
"cds_start": 195,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "NM_001190919.2",
"protein_id": "NP_001177848.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 490,
"cds_start": 195,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "NM_003250.6",
"protein_id": "NP_003241.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 490,
"cds_start": 195,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "ENST00000394121.8",
"protein_id": "ENSP00000377679.4",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 490,
"cds_start": 195,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "NM_001190918.2",
"protein_id": "NP_001177847.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 451,
"cds_start": 195,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "ENST00000546243.5",
"protein_id": "ENSP00000443972.1",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 410,
"cds_start": 195,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "ENST00000578218.5",
"protein_id": "ENSP00000464123.1",
"transcript_support_level": 4,
"aa_start": 65,
"aa_end": null,
"aa_length": 83,
"cds_start": 195,
"cds_end": null,
"cds_length": 254,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "ENST00000585047.5",
"protein_id": "ENSP00000462955.1",
"transcript_support_level": 4,
"aa_start": 65,
"aa_end": null,
"aa_length": 71,
"cds_start": 195,
"cds_end": null,
"cds_length": 218,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*",
"transcript": "XM_047436632.1",
"protein_id": "XP_047292588.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 410,
"cds_start": 195,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1572,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"hgvs_c": "c.*23C>A",
"hgvs_p": null,
"transcript": "ENST00000577486.1",
"protein_id": "ENSP00000464414.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "THRA",
"gene_hgnc_id": 11796,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.6700000166893005,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.199,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.67,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP3",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP3"
],
"verdict": "Pathogenic",
"transcript": "NM_199334.5",
"gene_symbol": "THRA",
"hgnc_id": 11796,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.195C>A",
"hgvs_p": "p.Tyr65*"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}