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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: 11-85482825-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=85482825&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 85482825,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001142699.3",
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.40+115832A>C",
"hgvs_p": null,
"transcript": "NM_001142699.3",
"protein_id": "NP_001136171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": -4,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": "ENST00000376104.7",
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.40+115832A>C",
"hgvs_p": null,
"transcript": "ENST00000376104.7",
"protein_id": "ENSP00000365272.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": -4,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": "NM_001142699.3",
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.151+115832A>C",
"hgvs_p": null,
"transcript": "ENST00000650630.1",
"protein_id": "ENSP00000497771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": -4,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5127,
"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": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.151+115832A>C",
"hgvs_p": null,
"transcript": "NM_001351274.2",
"protein_id": "NP_001338203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8537,
"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": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.151+115832A>C",
"hgvs_p": null,
"transcript": "ENST00000706226.1",
"protein_id": "ENSP00000516284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3626,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.151+115832A>C",
"hgvs_p": null,
"transcript": "NM_001351275.2",
"protein_id": "NP_001338204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": -4,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9469,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.151+115832A>C",
"hgvs_p": null,
"transcript": "ENST00000706233.1",
"protein_id": "ENSP00000516288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": -4,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9410,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.151+115832A>C",
"hgvs_p": null,
"transcript": "ENST00000706006.1",
"protein_id": "ENSP00000516200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2199,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.152-13103A>C",
"hgvs_p": null,
"transcript": "ENST00000472545.6",
"protein_id": "ENSP00000497873.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": -4,
"cds_end": null,
"cds_length": 159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "n.33-13103A>C",
"hgvs_p": null,
"transcript": "ENST00000530260.5",
"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,
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"cdna_length": 417,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "n.397+115832A>C",
"hgvs_p": null,
"transcript": "ENST00000705960.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3589,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "DLG2",
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"hgvs_c": "n.309+42166A>C",
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"transcript": "ENST00000706007.1",
"protein_id": "ENSP00000516201.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 5,
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"gene_symbol": "DLG2",
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"hgvs_c": "n.352+115832A>C",
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"transcript": "ENST00000706205.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "DLG2",
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"hgvs_c": "c.151+115832A>C",
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"transcript": "XM_047426494.1",
"protein_id": "XP_047282450.1",
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},
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],
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"gene_symbol": "DLG2",
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"hgvs_c": "c.151+115832A>C",
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"transcript": "XM_017017255.3",
"protein_id": "XP_016872744.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 3,
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"gene_symbol": "DLG2",
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"hgvs_c": "c.151+115832A>C",
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"transcript": "XM_017017256.3",
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},
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],
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"gene_symbol": "DLG2",
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"hgvs_c": "c.151+115832A>C",
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"transcript": "XM_017017257.3",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 28,
"intron_rank": 2,
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"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.151+115832A>C",
"hgvs_p": null,
"transcript": "XM_047426495.1",
"protein_id": "XP_047282451.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "DLG2",
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},
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],
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "DLG2",
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"hgvs_c": "c.151+115832A>C",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.151+115832A>C",
"hgvs_p": null,
"transcript": "XM_047426499.1",
"protein_id": "XP_047282455.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 949,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"dbsnp": "rs286499",
"frequency_reference_population": 0.8810701,
"hom_count_reference_population": 59801,
"allele_count_reference_population": 134046,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.88107,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 134046,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 59801,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.579,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_001142699.3",
"gene_symbol": "DLG2",
"hgnc_id": 2901,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.40+115832A>C",
"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
}