← Back to variant description
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: 3-49131128-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49131128&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LAMB2",
"hgnc_id": 6487,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_002292.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.6436,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"chr": "3",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "LAMB2-related infantile-onset nephrotic syndrome,Pierson syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9731720685958862,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5692,
"cdna_start": 920,
"cds_end": null,
"cds_length": 5397,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002292.4",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000305544.9",
"protein_coding": true,
"protein_id": "NP_002283.3",
"strand": false,
"transcript": "NM_002292.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5692,
"cdna_start": 920,
"cds_end": null,
"cds_length": 5397,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000305544.9",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002292.4",
"protein_coding": true,
"protein_id": "ENSP00000307156.4",
"strand": false,
"transcript": "ENST00000305544.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5674,
"cdna_start": 902,
"cds_end": null,
"cds_length": 5397,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000418109.5",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388325.1",
"strand": false,
"transcript": "ENST00000418109.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1812,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": 913,
"cds_end": null,
"cds_length": 5439,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960189.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630248.1",
"strand": false,
"transcript": "ENST00000960189.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1812,
"aa_ref": "R",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5683,
"cdna_start": 914,
"cds_end": null,
"cds_length": 5439,
"cds_start": 779,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960202.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Arg260Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630261.1",
"strand": false,
"transcript": "ENST00000960202.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5694,
"cdna_start": 895,
"cds_end": null,
"cds_length": 5424,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960193.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630252.1",
"strand": false,
"transcript": "ENST00000960193.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1802,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5684,
"cdna_start": 900,
"cds_end": null,
"cds_length": 5409,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884814.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554873.1",
"strand": false,
"transcript": "ENST00000884814.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1800,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5675,
"cdna_start": 898,
"cds_end": null,
"cds_length": 5403,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960192.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630251.1",
"strand": false,
"transcript": "ENST00000960192.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1797,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5661,
"cdna_start": 892,
"cds_end": null,
"cds_length": 5394,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960197.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630256.1",
"strand": false,
"transcript": "ENST00000960197.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5693,
"cdna_start": 926,
"cds_end": null,
"cds_length": 5391,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884810.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554869.1",
"strand": false,
"transcript": "ENST00000884810.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1795,
"aa_ref": "R",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5682,
"cdna_start": 910,
"cds_end": null,
"cds_length": 5388,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000921218.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Arg243Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591277.1",
"strand": false,
"transcript": "ENST00000921218.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1795,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5681,
"cdna_start": 919,
"cds_end": null,
"cds_length": 5388,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960188.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630247.1",
"strand": false,
"transcript": "ENST00000960188.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 919,
"cds_end": null,
"cds_length": 5376,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960187.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630246.1",
"strand": false,
"transcript": "ENST00000960187.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1776,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5599,
"cdna_start": 894,
"cds_end": null,
"cds_length": 5331,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960195.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630254.1",
"strand": false,
"transcript": "ENST00000960195.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1776,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 826,
"cds_end": null,
"cds_length": 5331,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960203.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630262.1",
"strand": false,
"transcript": "ENST00000960203.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1767,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5568,
"cdna_start": 890,
"cds_end": null,
"cds_length": 5304,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960199.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630258.1",
"strand": false,
"transcript": "ENST00000960199.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1762,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5584,
"cdna_start": 919,
"cds_end": null,
"cds_length": 5289,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960186.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630245.1",
"strand": false,
"transcript": "ENST00000960186.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1761,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5594,
"cdna_start": 933,
"cds_end": null,
"cds_length": 5286,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884809.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554868.1",
"strand": false,
"transcript": "ENST00000884809.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1759,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5560,
"cdna_start": 905,
"cds_end": null,
"cds_length": 5280,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960191.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630250.1",
"strand": false,
"transcript": "ENST00000960191.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1750,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 899,
"cds_end": null,
"cds_length": 5253,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884815.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554874.1",
"strand": false,
"transcript": "ENST00000884815.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1745,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5533,
"cdna_start": 920,
"cds_end": null,
"cds_length": 5238,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960185.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630244.1",
"strand": false,
"transcript": "ENST00000960185.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1742,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5494,
"cdna_start": 891,
"cds_end": null,
"cds_length": 5229,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960198.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630257.1",
"strand": false,
"transcript": "ENST00000960198.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1737,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5389,
"cdna_start": 801,
"cds_end": null,
"cds_length": 5214,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884816.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554875.1",
"strand": false,
"transcript": "ENST00000884816.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1735,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5521,
"cdna_start": 749,
"cds_end": null,
"cds_length": 5208,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000884808.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554867.1",
"strand": false,
"transcript": "ENST00000884808.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1735,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5483,
"cdna_start": 900,
"cds_end": null,
"cds_length": 5208,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884813.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554872.1",
"strand": false,
"transcript": "ENST00000884813.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1733,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5510,
"cdna_start": 744,
"cds_end": null,
"cds_length": 5202,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960184.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630243.1",
"strand": false,
"transcript": "ENST00000960184.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1730,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5479,
"cdna_start": 912,
"cds_end": null,
"cds_length": 5193,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960190.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630249.1",
"strand": false,
"transcript": "ENST00000960190.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1728,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 710,
"cds_end": null,
"cds_length": 5187,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884811.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554870.1",
"strand": false,
"transcript": "ENST00000884811.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1727,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5447,
"cdna_start": 889,
"cds_end": null,
"cds_length": 5184,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960201.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630260.1",
"strand": false,
"transcript": "ENST00000960201.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5287,
"cdna_start": 706,
"cds_end": null,
"cds_length": 5019,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960196.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630255.1",
"strand": false,
"transcript": "ENST00000960196.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5282,
"cdna_start": 706,
"cds_end": null,
"cds_length": 5013,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960194.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630253.1",
"strand": false,
"transcript": "ENST00000960194.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1630,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 916,
"cds_end": null,
"cds_length": 4893,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884812.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554871.1",
"strand": false,
"transcript": "ENST00000884812.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1567,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4968,
"cdna_start": 889,
"cds_end": null,
"cds_length": 4704,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960200.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630259.1",
"strand": false,
"transcript": "ENST00000960200.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 150,
"aa_ref": "R",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": 419,
"cds_end": null,
"cds_length": 453,
"cds_start": 290,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000494831.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444751.1",
"strand": false,
"transcript": "ENST00000494831.1",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5606,
"cdna_start": 834,
"cds_end": null,
"cds_length": 5397,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005265127.5",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265184.1",
"strand": false,
"transcript": "XM_005265127.5",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121912491",
"effect": "missense_variant",
"frequency_reference_population": 0.000006585793,
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000658579,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "LAMB2-related infantile-onset nephrotic syndrome|Pierson syndrome;LAMB2-related infantile-onset nephrotic syndrome",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.559,
"pos": 49131128,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.924,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.949999988079071,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Pathogenic",
"spliceai_max_score": 0.95,
"transcript": "NM_002292.4"
}
]
}