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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: 9-111574782-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=111574782&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTGR1",
"hgnc_id": 18429,
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_012212.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF483",
"hgnc_id": 23384,
"hgvs_c": "c.722-1583T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001007169.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000224644",
"hgnc_id": null,
"hgvs_c": "n.203+388T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000450154.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 21,
"alphamissense_prediction": null,
"alphamissense_score": 0.1151,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.028941839933395386,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1599,
"cdna_start": 767,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001146108.2",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000407693.7",
"protein_coding": true,
"protein_id": "NP_001139580.1",
"strand": false,
"transcript": "NM_001146108.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1599,
"cdna_start": 767,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000407693.7",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001146108.2",
"protein_coding": true,
"protein_id": "ENSP00000385763.2",
"strand": false,
"transcript": "ENST00000407693.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1223,
"cdna_start": 791,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000309195.9",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311572.5",
"strand": false,
"transcript": "ENST00000309195.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": 815,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_012212.3",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036344.2",
"strand": false,
"transcript": "NM_012212.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 946,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878676.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548735.1",
"strand": false,
"transcript": "ENST00000878676.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 932,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878677.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548736.1",
"strand": false,
"transcript": "ENST00000878677.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1413,
"cdna_start": 876,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878681.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548740.1",
"strand": false,
"transcript": "ENST00000878681.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1226,
"cdna_start": 797,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878682.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548741.1",
"strand": false,
"transcript": "ENST00000878682.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1211,
"cdna_start": 782,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878683.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548742.1",
"strand": false,
"transcript": "ENST00000878683.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1554,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878685.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548744.1",
"strand": false,
"transcript": "ENST00000878685.1",
"transcript_support_level": null
},
{
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"aa_length": 329,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 990,
"cds_start": 712,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878686.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548745.1",
"strand": false,
"transcript": "ENST00000878686.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 825,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000878687.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548746.1",
"strand": false,
"transcript": "ENST00000878687.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 329,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 2481,
"cds_end": null,
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"cds_start": 712,
"consequences": [
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],
"exon_count": 10,
"exon_rank": 8,
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"feature": "ENST00000916463.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586522.1",
"strand": false,
"transcript": "ENST00000916463.1",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 933,
"cds_end": null,
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"consequences": [
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],
"exon_count": 10,
"exon_rank": 8,
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"feature": "ENST00000947724.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617783.1",
"strand": false,
"transcript": "ENST00000947724.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 325,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 864,
"cds_end": null,
"cds_length": 978,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947725.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617784.1",
"strand": false,
"transcript": "ENST00000947725.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 310,
"aa_ref": "I",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1587,
"cdna_start": 761,
"cds_end": null,
"cds_length": 933,
"cds_start": 655,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916460.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Ile219Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586519.1",
"strand": false,
"transcript": "ENST00000916460.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001146109.2",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139581.1",
"strand": false,
"transcript": "NM_001146109.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 301,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 1200,
"cdna_start": 955,
"cds_end": null,
"cds_length": 906,
"cds_start": 712,
"consequences": [
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],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000538962.7",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.712A>G",
"hgvs_p": "p.Ile238Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440281.1",
"strand": false,
"transcript": "ENST00000538962.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 299,
"aa_ref": "I",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 679,
"cds_end": null,
"cds_length": 900,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878678.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Ile208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548737.1",
"strand": false,
"transcript": "ENST00000878678.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 299,
"aa_ref": "I",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1117,
"cdna_start": 691,
"cds_end": null,
"cds_length": 900,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000878684.1",
"gene_hgnc_id": 18429,
"gene_symbol": "PTGR1",
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Ile208Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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