← 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: 16-58626589-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58626589&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 58626589,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000317147.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.-175+3139C>T",
"hgvs_p": null,
"transcript": "NM_016284.5",
"protein_id": "NP_057368.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2376,
"cds_start": -4,
"cds_end": null,
"cds_length": 7131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8411,
"mane_select": "ENST00000317147.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.-175+3139C>T",
"hgvs_p": null,
"transcript": "ENST00000317147.10",
"protein_id": "ENSP00000320949.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2376,
"cds_start": -4,
"cds_end": null,
"cds_length": 7131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8411,
"mane_select": "NM_016284.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.-175+3139C>T",
"hgvs_p": null,
"transcript": "ENST00000569240.5",
"protein_id": "ENSP00000455635.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2371,
"cds_start": -4,
"cds_end": null,
"cds_length": 7116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.-175+3139C>T",
"hgvs_p": null,
"transcript": "ENST00000441024.6",
"protein_id": "ENSP00000413113.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1551,
"cds_start": -4,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.-175+3139C>T",
"hgvs_p": null,
"transcript": "ENST00000567188.5",
"protein_id": "ENSP00000456649.1",
"transcript_support_level": 1,
"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": 7830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.-175+3139C>T",
"hgvs_p": null,
"transcript": "NM_001265612.2",
"protein_id": "NP_001252541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2371,
"cds_start": -4,
"cds_end": null,
"cds_length": 7116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.-175+3139C>T",
"hgvs_p": null,
"transcript": "NM_206999.3",
"protein_id": "NP_996882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1551,
"cds_start": -4,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.-296-1795C>T",
"hgvs_p": null,
"transcript": "ENST00000564557.1",
"protein_id": "ENSP00000456975.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": -4,
"cds_end": null,
"cds_length": 188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.-303+3139C>T",
"hgvs_p": null,
"transcript": "ENST00000569020.5",
"protein_id": "ENSP00000457869.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 24,
"cds_start": -4,
"cds_end": null,
"cds_length": 75,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.-175+3139C>T",
"hgvs_p": null,
"transcript": "ENST00000565605.5",
"protein_id": "ENSP00000457460.1",
"transcript_support_level": 4,
"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": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.89-1795C>T",
"hgvs_p": null,
"transcript": "ENST00000568158.1",
"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": 496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.120+3139C>T",
"hgvs_p": null,
"transcript": "ENST00000569263.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.97+3139C>T",
"hgvs_p": null,
"transcript": "ENST00000569916.1",
"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": 599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.99+3139C>T",
"hgvs_p": null,
"transcript": "NR_049763.2",
"protein_id": null,
"transcript_support_level": null,
"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": 8579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"dbsnp": "rs154432",
"frequency_reference_population": 0.34029603,
"hom_count_reference_population": 10118,
"allele_count_reference_population": 51497,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.340296,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 51497,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 10118,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.766,
"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": -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": "ENST00000317147.10",
"gene_symbol": "CNOT1",
"hgnc_id": 7877,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-175+3139C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}