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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: 18-3497716-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3497716&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 3497716,
"ref": "T",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000315677.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "NM_004746.4",
"protein_id": "NP_004737.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "ENST00000315677.8",
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "ENST00000315677.8",
"protein_id": "ENSP00000316377.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "NM_004746.4",
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "ENST00000400147.6",
"protein_id": "ENSP00000383011.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": -4,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5258,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "NM_001398525.1",
"protein_id": "NP_001385454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": -4,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6685,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "NM_001398526.1",
"protein_id": "NP_001385455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": -4,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6680,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "NM_001398527.1",
"protein_id": "NP_001385456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6650,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "NM_001398530.1",
"protein_id": "NP_001385459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
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"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5421,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "NM_001398531.1",
"protein_id": "NP_001385460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5423,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "NM_001242763.2",
"protein_id": "NP_001229692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": -4,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
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"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "ENST00000515196.6",
"protein_id": "ENSP00000445973.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "NM_001398532.1",
"protein_id": "NP_001385461.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "DLGAP1",
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"hgvs_c": "c.*1469A>G",
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"transcript": "NM_001308390.2",
"protein_id": "NP_001295319.1",
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "ENST00000400150.7",
"protein_id": "ENSP00000383014.3",
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},
{
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "DLGAP1",
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"hgvs_c": "c.*1469A>G",
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"transcript": "NM_001398533.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
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"transcript": "NM_001242766.2",
"protein_id": "NP_001229695.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"intron_rank": null,
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"gene_symbol": "DLGAP1",
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"hgvs_c": "c.*1469A>G",
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"transcript": "NM_001398534.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "DLGAP1",
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"hgvs_c": "c.*1469A>G",
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"transcript": "NM_001242764.2",
"protein_id": "NP_001229693.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
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"transcript": "ENST00000400155.5",
"protein_id": "ENSP00000383019.1",
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},
{
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "DLGAP1",
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"hgvs_c": "c.*1469A>G",
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"transcript": "NM_001003809.3",
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},
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],
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"gene_symbol": "DLGAP1",
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"hgvs_c": "c.*1469A>G",
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"transcript": "ENST00000400149.7",
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},
{
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],
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"gene_symbol": "DLGAP1",
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
"hgvs_p": null,
"transcript": "XM_024451288.2",
"protein_id": "XP_024307056.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "DLGAP1",
"gene_hgnc_id": 2905,
"hgvs_c": "c.*1469A>G",
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"transcript": "XM_047437933.1",
"protein_id": "XP_047293889.1",
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{
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{
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}
],
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"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000315677.8",
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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
}