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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: 11-64313973-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64313973&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64313973,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000000442.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Pro116Pro",
"transcript": "NM_004451.5",
"protein_id": "NP_004442.3",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 423,
"cds_start": 348,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": "ENST00000000442.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Pro116Pro",
"transcript": "ENST00000000442.11",
"protein_id": "ENSP00000000442.6",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 423,
"cds_start": 348,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": "NM_004451.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.600G>A",
"hgvs_p": "p.Pro200Pro",
"transcript": "ENST00000406310.6",
"protein_id": "ENSP00000385971.2",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 506,
"cds_start": 600,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Pro116Pro",
"transcript": "ENST00000405666.5",
"protein_id": "ENSP00000384851.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 423,
"cds_start": 348,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Pro116Pro",
"transcript": "NM_001282450.2",
"protein_id": "NP_001269379.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 423,
"cds_start": 348,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Pro116Pro",
"transcript": "NM_001282451.2",
"protein_id": "NP_001269380.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 422,
"cds_start": 348,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Pro116Pro",
"transcript": "ENST00000677967.1",
"protein_id": "ENSP00000503245.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 422,
"cds_start": 348,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Pro126Pro",
"transcript": "XM_017017313.2",
"protein_id": "XP_016872802.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 433,
"cds_start": 378,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 3351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Pro126Pro",
"transcript": "XM_047426523.1",
"protein_id": "XP_047282479.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 432,
"cds_start": 378,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.282G>A",
"hgvs_p": "p.Pro94Pro",
"transcript": "XM_047426524.1",
"protein_id": "XP_047282480.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 401,
"cds_start": 282,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "n.203G>A",
"hgvs_p": null,
"transcript": "ENST00000467987.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"transcript": "ENST00000539594.5",
"protein_id": "ENSP00000439896.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ESRRA",
"gene_hgnc_id": 3471,
"dbsnp": "rs2276014",
"frequency_reference_population": 0.14763236,
"hom_count_reference_population": 18325,
"allele_count_reference_population": 233074,
"gnomad_exomes_af": 0.150624,
"gnomad_genomes_af": 0.1196,
"gnomad_exomes_ac": 214867,
"gnomad_genomes_ac": 18207,
"gnomad_exomes_homalt": 16938,
"gnomad_genomes_homalt": 1387,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.171,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000000442.11",
"gene_symbol": "ESRRA",
"hgnc_id": 3471,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Pro116Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}