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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: 10-77851295-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=77851295&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 77851295,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000372391.7",
"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": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.864+2059C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.864+2059C>T",
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.639+2059C>T",
"hgvs_p": null,
"transcript": "ENST00000468332.6",
"protein_id": "ENSP00000473298.1",
"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": 5505,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "n.93+17804C>T",
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.852+2059C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.687+2059C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.594+2059C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.582+2059C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.534+2059C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.534+2059C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.528+2059C>T",
"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
},
{
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"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": 4,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.399+2059C>T",
"hgvs_p": null,
"transcript": "XM_011540345.2",
"protein_id": "XP_011538647.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.399+2059C>T",
"hgvs_p": null,
"transcript": "XM_047426000.1",
"protein_id": "XP_047281956.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1764,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.387+2059C>T",
"hgvs_p": null,
"transcript": "XM_047426001.1",
"protein_id": "XP_047281957.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.864+2059C>T",
"hgvs_p": null,
"transcript": "XM_011540346.3",
"protein_id": "XP_011538648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1680,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.864+2059C>T",
"hgvs_p": null,
"transcript": "XM_006718056.4",
"protein_id": "XP_006718119.1",
"transcript_support_level": null,
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},
{
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"consequences": [
"intron_variant"
],
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"exon_count": 23,
"intron_rank": 5,
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"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.864+2059C>T",
"hgvs_p": null,
"transcript": "XM_047426002.1",
"protein_id": "XP_047281958.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.864+2059C>T",
"hgvs_p": null,
"transcript": "XM_006718057.4",
"protein_id": "XP_006718120.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"hgvs_c": "c.864+2059C>T",
"hgvs_p": null,
"transcript": "XM_047426003.1",
"protein_id": "XP_047281959.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1202,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4096,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "DLG5",
"gene_hgnc_id": 2904,
"dbsnp": "rs1248688",
"frequency_reference_population": 0.25436336,
"hom_count_reference_population": 5494,
"allele_count_reference_population": 38708,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.254363,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 38708,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5494,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"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": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.178,
"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": "ENST00000372391.7",
"gene_symbol": "DLG5",
"hgnc_id": 2904,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.864+2059C>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
}