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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: 3-49834208-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49834208&ref=C&alt=T&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": "TRAIP",
"hgnc_id": 30764,
"hgvs_c": "c.885-2140G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_005879.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 41950,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": null,
"cds_end": null,
"cds_length": 1410,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005879.3",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.885-2140G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331456.7",
"protein_coding": true,
"protein_id": "NP_005870.2",
"strand": false,
"transcript": "NM_005879.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": null,
"cds_end": null,
"cds_length": 1410,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000331456.7",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.885-2140G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005879.3",
"protein_coding": true,
"protein_id": "ENSP00000328203.2",
"strand": false,
"transcript": "ENST00000331456.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 473,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": null,
"cds_end": null,
"cds_length": 1422,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929625.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.897-2140G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599684.1",
"strand": false,
"transcript": "ENST00000929625.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 468,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2026,
"cdna_start": null,
"cds_end": null,
"cds_length": 1407,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929618.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.882-2140G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599677.1",
"strand": false,
"transcript": "ENST00000929618.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 468,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": null,
"cds_end": null,
"cds_length": 1407,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929622.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.885-2140G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599681.1",
"strand": false,
"transcript": "ENST00000929622.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": null,
"cds_end": null,
"cds_length": 1404,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929620.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.879-2140G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599679.1",
"strand": false,
"transcript": "ENST00000929620.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 431,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": null,
"cds_end": null,
"cds_length": 1296,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891847.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.771-2140G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561906.1",
"strand": false,
"transcript": "ENST00000891847.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929624.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.885-2140G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599683.1",
"strand": false,
"transcript": "ENST00000929624.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 418,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": null,
"cds_end": null,
"cds_length": 1257,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929623.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.885-4140G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599682.1",
"strand": false,
"transcript": "ENST00000929623.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 370,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": null,
"cds_end": null,
"cds_length": 1113,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891848.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.588-2140G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561907.1",
"strand": false,
"transcript": "ENST00000891848.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000967097.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.504-2140G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000637156.1",
"strand": false,
"transcript": "ENST00000967097.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000929619.1",
"gene_hgnc_id": 30764,
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000929619.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000929617.1",
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"protein_id": "ENSP00000599676.1",
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"transcript": "ENST00000929617.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000469027.5",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.420-2140G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000420085.1",
"strand": false,
"transcript": "ENST00000469027.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000929621.1",
"gene_hgnc_id": 30764,
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"protein_coding": true,
"protein_id": "ENSP00000599680.1",
"strand": false,
"transcript": "ENST00000929621.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000967098.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.420-4140G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000637157.1",
"strand": false,
"transcript": "ENST00000967098.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
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"feature": "XM_017005526.2",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "c.588-2140G>A",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016861015.1",
"strand": false,
"transcript": "XM_017005526.2",
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},
{
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],
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"feature": "XM_047447240.1",
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"transcript": "XM_047447240.1",
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},
{
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],
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"feature": "ENST00000473195.5",
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"protein_coding": false,
"protein_id": "ENSP00000419556.1",
"strand": false,
"transcript": "ENST00000473195.5",
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},
{
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"consequences": [
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],
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"feature": "ENST00000475495.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "n.359-2140G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000475495.1",
"transcript_support_level": 3
},
{
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"aa_start": null,
"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007094382.1",
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"hgvs_c": "n.996-1168G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007094382.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2352967",
"effect": "intron_variant",
"frequency_reference_population": 0.27595416,
"gene_hgnc_id": 30764,
"gene_symbol": "TRAIP",
"gnomad_exomes_ac": null,
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}
]
}