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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: 10-77790805-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=77790805&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 77790805,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000372391.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "NM_004747.4",
"protein_id": "NP_004738.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1919,
"cds_start": -4,
"cds_end": null,
"cds_length": 5760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": "ENST00000372391.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "ENST00000372391.7",
"protein_id": "ENSP00000361467.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1919,
"cds_start": -4,
"cds_end": null,
"cds_length": 5760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7644,
"mane_select": "NM_004747.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "ENST00000424842.5",
"protein_id": "ENSP00000394797.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 880,
"cds_start": -4,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228748",
"gene_hgnc_id": null,
"hgvs_c": "n.465-808C>T",
"hgvs_p": null,
"transcript": "ENST00000434097.2",
"protein_id": null,
"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": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.7232G>A",
"hgvs_p": null,
"transcript": "ENST00000475613.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 7246,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228748",
"gene_hgnc_id": null,
"hgvs_c": "n.145C>T",
"hgvs_p": null,
"transcript": "ENST00000601701.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_005270276.5",
"protein_id": "XP_005270333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1915,
"cds_start": -4,
"cds_end": null,
"cds_length": 5748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_011540341.4",
"protein_id": "XP_011538643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": -4,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_011540342.2",
"protein_id": "XP_011538644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1829,
"cds_start": -4,
"cds_end": null,
"cds_length": 5490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_017016913.2",
"protein_id": "XP_016872402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1825,
"cds_start": -4,
"cds_end": null,
"cds_length": 5478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_017016914.2",
"protein_id": "XP_016872403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1809,
"cds_start": -4,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_047425998.1",
"protein_id": "XP_047281954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1809,
"cds_start": -4,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_011540344.3",
"protein_id": "XP_011538646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1807,
"cds_start": -4,
"cds_end": null,
"cds_length": 5424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_011540345.2",
"protein_id": "XP_011538647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1764,
"cds_start": -4,
"cds_end": null,
"cds_length": 5295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_047426000.1",
"protein_id": "XP_047281956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1764,
"cds_start": -4,
"cds_end": null,
"cds_length": 5295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_047426001.1",
"protein_id": "XP_047281957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1760,
"cds_start": -4,
"cds_end": null,
"cds_length": 5283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_011540347.3",
"protein_id": "XP_011538649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1613,
"cds_start": -4,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_017016915.2",
"protein_id": "XP_016872404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1613,
"cds_start": -4,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_006718056.4",
"protein_id": "XP_006718119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1579,
"cds_start": -4,
"cds_end": null,
"cds_length": 4740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.*1635G>A",
"hgvs_p": null,
"transcript": "XM_024448250.2",
"protein_id": "XP_024304018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1434,
"cds_start": -4,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"dbsnp": "rs57321187",
"frequency_reference_population": 0.0000065642644,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656426,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.07000000029802322,
"computational_prediction_selected": "Uncertain_significance",
"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": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.45,
"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": "ENST00000372391.7",
"gene_symbol": "DLG5",
"hgnc_id": 2904,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.*1635G>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000601701.1",
"gene_symbol": "ENSG00000228748",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.145C>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
}