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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: 16-1413429-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1413429&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "UNKL",
"hgnc_id": 14184,
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001372107.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.03,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 733,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5250,
"cdna_start": null,
"cds_end": null,
"cds_length": 2202,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372107.1",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389221.9",
"protein_coding": true,
"protein_id": "NP_001359036.1",
"strand": false,
"transcript": "NM_001372107.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 733,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5250,
"cdna_start": null,
"cds_end": null,
"cds_length": 2202,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389221.9",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001372107.1",
"protein_coding": true,
"protein_id": "ENSP00000373873.6",
"strand": false,
"transcript": "ENST00000389221.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1431,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000301712.5",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000301712.5",
"strand": false,
"transcript": "ENST00000301712.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 753,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": null,
"cds_end": null,
"cds_length": 2262,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876325.1",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546384.1",
"strand": false,
"transcript": "ENST00000876325.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 717,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": null,
"cds_end": null,
"cds_length": 2154,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876326.1",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546385.1",
"strand": false,
"transcript": "ENST00000876326.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 712,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": null,
"cds_end": null,
"cds_length": 2139,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876327.1",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546386.1",
"strand": false,
"transcript": "ENST00000876327.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 683,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5100,
"cdna_start": null,
"cds_end": null,
"cds_length": 2052,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001193388.4",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180317.2",
"strand": false,
"transcript": "NM_001193388.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 683,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": null,
"cds_end": null,
"cds_length": 2052,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508903.7",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422852.3",
"strand": false,
"transcript": "ENST00000508903.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 663,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": null,
"cds_end": null,
"cds_length": 1992,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876324.1",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.77+1186T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546383.1",
"strand": false,
"transcript": "ENST00000876324.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001037125.4",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001032202.1",
"strand": false,
"transcript": "NM_001037125.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5310,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522610.2",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.287+417T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520912.1",
"strand": false,
"transcript": "XM_011522610.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
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"consequences": [
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],
"exon_count": 16,
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"feature": "XM_011522611.2",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520913.1",
"strand": false,
"transcript": "XM_011522611.2",
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},
{
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],
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"feature": "XM_011522612.2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520914.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "XM_047434488.1",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.77+1186T>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047290444.1",
"strand": false,
"transcript": "XM_047434488.1",
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},
{
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],
"exon_count": 14,
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"feature": "XM_047434489.1",
"gene_hgnc_id": 14184,
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"protein_coding": true,
"protein_id": "XP_047290445.1",
"strand": false,
"transcript": "XM_047434489.1",
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},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "XM_047434490.1",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.-272+417T>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047290446.1",
"strand": false,
"transcript": "XM_047434490.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
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"feature": "XM_047434491.1",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "c.-272+417T>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047290447.1",
"strand": false,
"transcript": "XM_047434491.1",
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},
{
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"consequences": [
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],
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"feature": "XM_011522613.2",
"gene_hgnc_id": 14184,
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"mane_plus": null,
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"protein_id": "XP_011520915.1",
"strand": false,
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},
{
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000382757.9",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000372205.5",
"strand": false,
"transcript": "ENST00000382757.9",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 5,
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"feature": "ENST00000503648.1",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "n.291+417T>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000503648.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 370,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000566707.1",
"gene_hgnc_id": 14184,
"gene_symbol": "UNKL",
"hgvs_c": "n.233+417T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000566707.1",
"transcript_support_level": 2
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
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