← 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: 6-130055178-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=130055178&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 130055178,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032438.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "NM_032438.4",
"protein_id": "NP_115814.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361794.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032438.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "ENST00000361794.7",
"protein_id": "ENSP00000354526.2",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032438.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361794.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "ENST00000533560.5",
"protein_id": "ENSP00000437185.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533560.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "ENST00000858931.1",
"protein_id": "ENSP00000528990.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858931.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "ENST00000966136.1",
"protein_id": "ENSP00000636195.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966136.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "ENST00000368136.3",
"protein_id": "ENSP00000357118.2",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368136.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "ENST00000858923.1",
"protein_id": "ENSP00000528982.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858923.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "ENST00000858926.1",
"protein_id": "ENSP00000528985.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858926.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "ENST00000858929.1",
"protein_id": "ENSP00000528988.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858929.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "ENST00000858930.1",
"protein_id": "ENSP00000528989.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858930.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "ENST00000858933.1",
"protein_id": "ENSP00000528992.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858933.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "ENST00000858934.1",
"protein_id": "ENSP00000528993.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858934.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "NM_001007102.4",
"protein_id": "NP_001007103.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007102.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "NM_001346550.2",
"protein_id": "NP_001333479.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346550.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "NM_001346551.2",
"protein_id": "NP_001333480.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346551.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "ENST00000368139.6",
"protein_id": "ENSP00000357121.2",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368139.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "ENST00000526019.5",
"protein_id": "ENSP00000436706.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526019.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "ENST00000858924.1",
"protein_id": "ENSP00000528983.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858924.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "ENST00000858925.1",
"protein_id": "ENSP00000528984.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858925.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "ENST00000858927.1",
"protein_id": "ENSP00000528986.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858927.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "ENST00000858928.1",
"protein_id": "ENSP00000528987.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858928.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "ENST00000858932.1",
"protein_id": "ENSP00000528991.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858932.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "ENST00000966137.1",
"protein_id": "ENSP00000636196.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966137.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "XM_006715576.4",
"protein_id": "XP_006715639.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715576.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "XM_047419400.1",
"protein_id": "XP_047275356.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419400.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "XM_047419401.1",
"protein_id": "XP_047275357.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419401.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "XM_047419402.1",
"protein_id": "XP_047275358.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419402.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "XM_047419403.1",
"protein_id": "XP_047275359.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419403.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "XM_047419404.1",
"protein_id": "XP_047275360.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419404.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "XM_047419405.1",
"protein_id": "XP_047275361.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419405.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Lys232Arg",
"transcript": "XM_047419407.1",
"protein_id": "XP_047275363.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 815,
"cds_start": 695,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419407.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "XM_005267161.5",
"protein_id": "XP_005267218.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267161.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "XM_006715578.4",
"protein_id": "XP_006715641.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715578.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "XM_011536179.4",
"protein_id": "XP_011534481.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536179.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "XM_011536180.3",
"protein_id": "XP_011534482.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536180.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "XM_011536181.3",
"protein_id": "XP_011534483.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536181.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg",
"transcript": "XM_011536184.3",
"protein_id": "XP_011534486.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 780,
"cds_start": 590,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536184.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "XM_047419408.1",
"protein_id": "XP_047275364.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419408.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "XM_047419409.1",
"protein_id": "XP_047275365.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419409.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "XM_047419410.1",
"protein_id": "XP_047275366.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419410.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Lys172Arg",
"transcript": "XM_047419412.1",
"protein_id": "XP_047275368.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 755,
"cds_start": 515,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419412.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "n.92A>G",
"hgvs_p": null,
"transcript": "ENST00000531313.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531313.1"
}
],
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"dbsnp": "rs768008218",
"frequency_reference_population": 0.0000055780743,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000479033,
"gnomad_genomes_af": 0.000013142,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11918261647224426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.0781,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.097,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032438.4",
"gene_symbol": "L3MBTL3",
"hgnc_id": 23035,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Lys197Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}