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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: 1-200048760-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200048760&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200048760,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367362.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.1052A>T",
"hgvs_p": "p.Gln351Leu",
"transcript": "NM_205860.3",
"protein_id": "NP_995582.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 541,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": "ENST00000367362.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.1052A>T",
"hgvs_p": "p.Gln351Leu",
"transcript": "ENST00000367362.8",
"protein_id": "ENSP00000356331.3",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 541,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": "NM_205860.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.914A>T",
"hgvs_p": "p.Gln305Leu",
"transcript": "ENST00000236914.7",
"protein_id": "ENSP00000236914.3",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 495,
"cds_start": 914,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.812A>T",
"hgvs_p": "p.Gln271Leu",
"transcript": "ENST00000367357.3",
"protein_id": "ENSP00000356326.3",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 376,
"cds_start": 812,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.914A>T",
"hgvs_p": "p.Gln305Leu",
"transcript": "NM_003822.5",
"protein_id": "NP_003813.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 495,
"cds_start": 914,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 4831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.836A>T",
"hgvs_p": "p.Gln279Leu",
"transcript": "NM_001276464.2",
"protein_id": "NP_001263393.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 469,
"cds_start": 836,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 5004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.836A>T",
"hgvs_p": "p.Gln279Leu",
"transcript": "ENST00000544748.5",
"protein_id": "ENSP00000439116.1",
"transcript_support_level": 2,
"aa_start": 279,
"aa_end": null,
"aa_length": 469,
"cds_start": 836,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.1028A>T",
"hgvs_p": "p.Gln343Leu",
"transcript": "XM_047416753.1",
"protein_id": "XP_047272709.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 533,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.1022A>T",
"hgvs_p": "p.Gln341Leu",
"transcript": "XM_047416762.1",
"protein_id": "XP_047272718.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 531,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 3080,
"cdna_end": null,
"cdna_length": 6859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.932A>T",
"hgvs_p": "p.Gln311Leu",
"transcript": "XM_011509381.4",
"protein_id": "XP_011507683.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 501,
"cds_start": 932,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 2736,
"cdna_end": null,
"cdna_length": 6515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.932A>T",
"hgvs_p": "p.Gln311Leu",
"transcript": "XM_011509384.3",
"protein_id": "XP_011507686.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 501,
"cds_start": 932,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.932A>T",
"hgvs_p": "p.Gln311Leu",
"transcript": "XM_017000904.2",
"protein_id": "XP_016856393.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 501,
"cds_start": 932,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"hgvs_c": "c.836A>T",
"hgvs_p": "p.Gln279Leu",
"transcript": "XM_005245062.4",
"protein_id": "XP_005245119.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 469,
"cds_start": 836,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NR5A2",
"gene_hgnc_id": 7984,
"dbsnp": "rs774872040",
"frequency_reference_population": 0.00000342023,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342023,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8274884223937988,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.835,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.061,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,PP3,BP6,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 5,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367362.8",
"gene_symbol": "NR5A2",
"hgnc_id": 7984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1052A>T",
"hgvs_p": "p.Gln351Leu"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}