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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: 10-77817175-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=77817175&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DLG5",
"hgnc_id": 2904,
"hgvs_c": "c.3785-79C>T",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_004747.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 42143,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1919,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7644,
"cdna_start": null,
"cds_end": null,
"cds_length": 5760,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004747.4",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.3785-79C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372391.7",
"protein_coding": true,
"protein_id": "NP_004738.3",
"strand": false,
"transcript": "NM_004747.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1919,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7644,
"cdna_start": null,
"cds_end": null,
"cds_length": 5760,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372391.7",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.3785-79C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004747.4",
"protein_coding": true,
"protein_id": "ENSP00000361467.2",
"strand": false,
"transcript": "ENST00000372391.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 880,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": null,
"cds_end": null,
"cds_length": 2643,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424842.5",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.668-79C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394797.1",
"strand": false,
"transcript": "ENST00000424842.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000459739.5",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "n.840-79C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000459739.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000463362.5",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "n.413-79C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000463362.5",
"transcript_support_level": 1
},
{
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"aa_end": null,
"aa_length": 1915,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8029,
"cdna_start": null,
"cds_end": null,
"cds_length": 5748,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928380.1",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.3773-79C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598439.1",
"strand": false,
"transcript": "ENST00000928380.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8013,
"cdna_start": null,
"cds_end": null,
"cds_length": 5667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928379.1",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.3692-79C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598438.1",
"strand": false,
"transcript": "ENST00000928379.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1548,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5256,
"cdna_start": null,
"cds_end": null,
"cds_length": 4647,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962015.1",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.2672-79C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632074.1",
"strand": false,
"transcript": "ENST00000962015.1",
"transcript_support_level": null
},
{
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"aa_length": 1915,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7632,
"cdna_start": null,
"cds_end": null,
"cds_length": 5748,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005270276.5",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.3773-79C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270333.1",
"strand": false,
"transcript": "XM_005270276.5",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1860,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011540341.4",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.3608-79C>T",
"hgvs_p": null,
"intron_rank": 18,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538643.1",
"strand": false,
"transcript": "XM_011540341.4",
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},
{
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"consequences": [
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],
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"feature": "XM_011540342.2",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.3515-79C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011538644.1",
"strand": false,
"transcript": "XM_011540342.2",
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},
{
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"cdna_start": null,
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],
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"feature": "XM_017016913.2",
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"protein_id": "XP_016872402.1",
"strand": false,
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},
{
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},
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],
"exon_count": 32,
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"feature": "XM_047425998.1",
"gene_hgnc_id": 2904,
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"hgvs_c": "c.3455-79C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047281954.1",
"strand": false,
"transcript": "XM_047425998.1",
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},
{
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],
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"feature": "XM_011540344.3",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "XM_011540344.3",
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},
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],
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"feature": "XM_011540345.2",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.3320-79C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011538647.1",
"strand": false,
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},
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],
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"feature": "XM_047426000.1",
"gene_hgnc_id": 2904,
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"hgvs_c": "c.3320-79C>T",
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},
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"feature": "XM_047426001.1",
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},
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],
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"feature": "XM_011540346.3",
"gene_hgnc_id": 2904,
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},
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"consequences": [
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],
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"feature": "XM_011540347.3",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011538649.1",
"strand": false,
"transcript": "XM_011540347.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017016915.2",
"gene_hgnc_id": 2904,
"gene_symbol": "DLG5",
"hgvs_c": "c.2867-79C>T",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016872404.1",
"strand": false,
"transcript": "XM_017016915.2",
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},
{
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