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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: 16-58523305-GAAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58523305&ref=GAAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 58523305,
"ref": "GAAA",
"alt": "G",
"effect": "3_prime_UTR_variant",
"transcript": "NM_001160305.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD6",
"gene_hgnc_id": 26116,
"hgvs_c": "c.*4284_*4286delAAA",
"hgvs_p": null,
"transcript": "NM_001160305.4",
"protein_id": "NP_001153777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000219315.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160305.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD6",
"gene_hgnc_id": 26116,
"hgvs_c": "c.*4284_*4286delAAA",
"hgvs_p": null,
"transcript": "ENST00000219315.9",
"protein_id": "ENSP00000219315.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": null,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001160305.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219315.9"
},
{
"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": 47,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6917+62_6917+64delTTT",
"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": null,
"cds_end": null,
"cds_length": 7131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317147.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016284.5"
},
{
"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": 47,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6917+62_6917+64delTTT",
"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": null,
"cds_end": null,
"cds_length": 7131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016284.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317147.10"
},
{
"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": 47,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6902+62_6902+64delTTT",
"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": null,
"cds_end": null,
"cds_length": 7116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569240.5"
},
{
"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": 48,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.*632+62_*632+64delTTT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567188.5"
},
{
"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": 50,
"intron_rank": 48,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6917+62_6917+64delTTT",
"hgvs_p": null,
"transcript": "ENST00000938268.1",
"protein_id": "ENSP00000608327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2376,
"cds_start": null,
"cds_end": null,
"cds_length": 7131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938268.1"
},
{
"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": 47,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6902+62_6902+64delTTT",
"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": null,
"cds_end": null,
"cds_length": 7116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265612.2"
},
{
"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": 50,
"intron_rank": 48,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6902+62_6902+64delTTT",
"hgvs_p": null,
"transcript": "ENST00000938270.1",
"protein_id": "ENSP00000608329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2371,
"cds_start": null,
"cds_end": null,
"cds_length": 7116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938270.1"
},
{
"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": 47,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6899+62_6899+64delTTT",
"hgvs_p": null,
"transcript": "ENST00000880845.1",
"protein_id": "ENSP00000550904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2370,
"cds_start": null,
"cds_end": null,
"cds_length": 7113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880845.1"
},
{
"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": 48,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6668+62_6668+64delTTT",
"hgvs_p": null,
"transcript": "ENST00000938267.1",
"protein_id": "ENSP00000608326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2293,
"cds_start": null,
"cds_end": null,
"cds_length": 6882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938267.1"
},
{
"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": 44,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "c.6071+62_6071+64delTTT",
"hgvs_p": null,
"transcript": "ENST00000938269.1",
"protein_id": "ENSP00000608328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2094,
"cds_start": null,
"cds_end": null,
"cds_length": 6285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938269.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276259",
"gene_hgnc_id": null,
"hgvs_c": "n.344_346delAAA",
"hgvs_p": null,
"transcript": "ENST00000622896.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000622896.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.1792+62_1792+64delTTT",
"hgvs_p": null,
"transcript": "ENST00000563130.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000563130.5"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.336+62_336+64delTTT",
"hgvs_p": null,
"transcript": "ENST00000569924.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000569924.1"
},
{
"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": 48,
"intron_rank_end": null,
"gene_symbol": "CNOT1",
"gene_hgnc_id": 7877,
"hgvs_c": "n.7358+62_7358+64delTTT",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_049763.2"
}
],
"gene_symbol": "SETD6",
"gene_hgnc_id": 26116,
"dbsnp": "rs71155275",
"frequency_reference_population": 0.0000025175516,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000251755,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.483,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001160305.4",
"gene_symbol": "SETD6",
"hgnc_id": 26116,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.*4284_*4286delAAA",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016284.5",
"gene_symbol": "CNOT1",
"hgnc_id": 7877,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6917+62_6917+64delTTT",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000622896.1",
"gene_symbol": "ENSG00000276259",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.344_346delAAA",
"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
}