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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: 12-120249277-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120249277&ref=G&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": "PXN",
"hgnc_id": 9718,
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001385981.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.97,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9700000286102295,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1081,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5214,
"cdna_start": null,
"cds_end": null,
"cds_length": 3246,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385981.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000637617.2",
"protein_coding": true,
"protein_id": "NP_001372910.1",
"strand": false,
"transcript": "NM_001385981.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1081,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5214,
"cdna_start": null,
"cds_end": null,
"cds_length": 3246,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637617.2",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001385981.1",
"protein_coding": true,
"protein_id": "ENSP00000489840.1",
"strand": false,
"transcript": "ENST00000637617.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 591,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": null,
"cds_end": null,
"cds_length": 1776,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000228307.11",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000228307.7",
"strand": false,
"transcript": "ENST00000228307.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 557,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3683,
"cdna_start": null,
"cds_end": null,
"cds_length": 1674,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424649.6",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391283.2",
"strand": false,
"transcript": "ENST00000424649.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 424,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": null,
"cds_end": null,
"cds_length": 1275,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000458477.6",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.-387+606C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395536.2",
"strand": false,
"transcript": "ENST00000458477.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5468,
"cdna_start": null,
"cds_end": null,
"cds_length": 3507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967075.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637134.1",
"strand": false,
"transcript": "ENST00000967075.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1079,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5246,
"cdna_start": null,
"cds_end": null,
"cds_length": 3240,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884794.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554853.1",
"strand": false,
"transcript": "ENST00000884794.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1037,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5122,
"cdna_start": null,
"cds_end": null,
"cds_length": 3114,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884793.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554852.1",
"strand": false,
"transcript": "ENST00000884793.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 989,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4938,
"cdna_start": null,
"cds_end": null,
"cds_length": 2970,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385982.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372911.1",
"strand": false,
"transcript": "NM_001385982.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 989,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": null,
"cds_end": null,
"cds_length": 2970,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884795.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554854.1",
"strand": false,
"transcript": "ENST00000884795.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
"cds_length": 2964,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385983.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372912.1",
"strand": false,
"transcript": "NM_001385983.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4922,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000884802.1",
"gene_hgnc_id": 9718,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554861.1",
"strand": false,
"transcript": "ENST00000884802.1",
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},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000967074.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000637133.1",
"strand": false,
"transcript": "ENST00000967074.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2703,
"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385984.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001372913.1",
"strand": false,
"transcript": "NM_001385984.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000967076.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000637135.1",
"strand": false,
"transcript": "ENST00000967076.1",
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},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "NM_001385985.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001372914.1",
"strand": false,
"transcript": "NM_001385985.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000884799.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
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"protein_id": "ENSP00000554858.1",
"strand": false,
"transcript": "ENST00000884799.1",
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},
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"consequences": [
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],
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"feature": "ENST00000916171.1",
"gene_hgnc_id": 9718,
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"protein_id": "ENSP00000586230.1",
"strand": false,
"transcript": "ENST00000916171.1",
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},
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],
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"feature": "NM_001385986.1",
"gene_hgnc_id": 9718,
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"hgvs_c": "c.13+16340C>A",
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"protein_id": "NP_001372915.1",
"strand": false,
"transcript": "NM_001385986.1",
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000916174.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586233.1",
"strand": false,
"transcript": "ENST00000916174.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4053,
"cdna_start": null,
"cds_end": null,
"cds_length": 2085,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385987.1",
"gene_hgnc_id": 9718,
"gene_symbol": "PXN",
"hgvs_c": "c.13+16340C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372916.1",
"strand": false,
"transcript": "NM_001385987.1",
"transcript_support_level": null
},
{
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