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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: 1-156135968-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156135968&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Moderate",
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LMNA",
"hgnc_id": 6636,
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_001406985.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Moderate,PM1,PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_score": 14,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9925,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.45,
"chr": "1",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": " autosomal recessive,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3,Mandibuloacral dysplasia with type A lipodystrophy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9429112672805786,
"computational_source_selected": "CardioboostCm",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_170707.4",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368300.9",
"protein_coding": true,
"protein_id": "NP_733821.1",
"strand": true,
"transcript": "NM_170707.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000368300.9",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_170707.4",
"protein_coding": true,
"protein_id": "ENSP00000357283.4",
"strand": true,
"transcript": "ENST00000368300.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_005572.4",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000677389.1",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005563.1",
"strand": true,
"transcript": "NM_005572.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000677389.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_005572.4",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503633.1",
"strand": true,
"transcript": "ENST00000677389.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000368299.7",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357282.3",
"strand": true,
"transcript": "ENST00000368299.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000368298.2",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "n.268G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000368298.2",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 729,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000675667.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501803.1",
"strand": true,
"transcript": "ENST00000675667.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001406985.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393914.1",
"strand": true,
"transcript": "NM_001406985.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 664,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3504,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001406983.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393912.1",
"strand": true,
"transcript": "NM_001406983.1",
"transcript_support_level": null
},
{
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"aa_length": 664,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406991.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393920.1",
"strand": true,
"transcript": "NM_001406991.1",
"transcript_support_level": null
},
{
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"aa_length": 664,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000361308.9",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355292.6",
"strand": true,
"transcript": "ENST00000361308.9",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1223,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000675939.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
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"protein_coding": true,
"protein_id": "ENSP00000502256.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000683032.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506771.1",
"strand": true,
"transcript": "ENST00000683032.1",
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},
{
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"canonical": false,
"cdna_end": null,
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"cdna_start": 1469,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000899553.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000569612.1",
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"transcript": "ENST00000899553.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000927999.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598058.1",
"strand": true,
"transcript": "ENST00000927999.1",
"transcript_support_level": null
},
{
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"cdna_start": 1585,
"cds_end": null,
"cds_length": 1995,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000968786.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638845.1",
"strand": true,
"transcript": "ENST00000968786.1",
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},
{
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],
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"feature": "ENST00000968787.1",
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"mane_plus": null,
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},
{
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000899558.1",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.959G>C",
"hgvs_p": "p.Arg320Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000569617.1",
"strand": true,
"transcript": "ENST00000899558.1",
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},
{
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"consequences": [
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],
"exon_count": 11,
"exon_rank": 6,
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"feature": "NM_170708.4",
"gene_hgnc_id": 6636,
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"hgvs_c": "c.1004G>C",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_733822.1",
"strand": true,
"transcript": "NM_170708.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1845,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000676385.2",
"gene_hgnc_id": 6636,
"gene_symbol": "LMNA",
"hgvs_c": "c.1004G>C",
"hgvs_p": "p.Arg335Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502091.1",
"strand": true,
"transcript": "ENST00000676385.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000682650.1",
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}