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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: 15-25356954-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=25356954&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 25356954,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_130839.5",
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1754-58T>G",
"hgvs_p": null,
"transcript": "NM_130839.5",
"protein_id": "NP_570854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": -4,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8728,
"mane_select": "ENST00000648336.2",
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1754-58T>G",
"hgvs_p": null,
"transcript": "ENST00000648336.2",
"protein_id": "ENSP00000497572.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": -4,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8728,
"mane_select": "NM_130839.5",
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "ENST00000566215.5",
"protein_id": "ENSP00000457771.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3176,
"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": 54,
"intron_rank": 53,
"intron_rank_end": null,
"gene_symbol": "SNHG14",
"gene_hgnc_id": 37462,
"hgvs_c": "n.5767-61834A>C",
"hgvs_p": null,
"transcript": "ENST00000424333.6",
"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": 7315,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SNHG14",
"gene_hgnc_id": 37462,
"hgvs_c": "n.489-61834A>C",
"hgvs_p": null,
"transcript": "ENST00000554726.2",
"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": 1168,
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1763-58T>G",
"hgvs_p": null,
"transcript": "NM_000462.5",
"protein_id": "NP_000453.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5319,
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1763-58T>G",
"hgvs_p": null,
"transcript": "ENST00000650110.1",
"protein_id": "ENSP00000497594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5274,
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1754-58T>G",
"hgvs_p": null,
"transcript": "NM_001354505.1",
"protein_id": "NP_001341434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": -4,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4863,
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1754-58T>G",
"hgvs_p": null,
"transcript": "NM_001354538.2",
"protein_id": "NP_001341467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": -4,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8764,
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1754-58T>G",
"hgvs_p": null,
"transcript": "ENST00000637886.1",
"protein_id": "ENSP00000490258.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": -4,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8725,
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354506.2",
"protein_id": "NP_001341435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8864,
"mane_select": 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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354507.2",
"protein_id": "NP_001341436.1",
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"aa_start": null,
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"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354508.2",
"protein_id": "NP_001341437.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 852,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354509.2",
"protein_id": "NP_001341438.1",
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},
{
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"consequences": [
"intron_variant"
],
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"intron_rank": 8,
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"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354511.2",
"protein_id": "NP_001341440.1",
"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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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354512.2",
"protein_id": "NP_001341441.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "UBE3A",
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"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354513.2",
"protein_id": "NP_001341442.1",
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354523.2",
"protein_id": "NP_001341452.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354526.1",
"protein_id": "NP_001341455.1",
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},
{
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],
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"gene_symbol": "UBE3A",
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"hgvs_c": "c.1694-58T>G",
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"transcript": "NM_001354539.2",
"protein_id": "NP_001341468.1",
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},
{
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],
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"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
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"hgvs_c": "c.1694-58T>G",
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"protein_id": "NP_001341469.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354541.2",
"protein_id": "NP_001341470.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 852,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8989,
"mane_select": 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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UBE3A",
"gene_hgnc_id": 12496,
"hgvs_c": "c.1694-58T>G",
"hgvs_p": null,
"transcript": "NM_001354542.2",
"protein_id": "NP_001341471.1",
"transcript_support_level": null,
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}
],
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"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.289,
"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,BS1,BS2",
"acmg_by_gene": [
{
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_130839.5",
"gene_symbol": "UBE3A",
"hgnc_id": 12496,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1754-58T>G",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000424333.6",
"gene_symbol": "SNHG14",
"hgnc_id": 37462,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.5767-61834A>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}