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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: 22-41217159-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41217159&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41217159,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_031488.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.557A>G",
"hgvs_p": "p.Lys186Arg",
"transcript": "NM_031488.5",
"protein_id": "NP_113676.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 705,
"cds_start": 557,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216237.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031488.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.557A>G",
"hgvs_p": "p.Lys186Arg",
"transcript": "ENST00000216237.10",
"protein_id": "ENSP00000216237.5",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 705,
"cds_start": 557,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031488.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216237.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "n.611A>G",
"hgvs_p": null,
"transcript": "ENST00000466589.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000466589.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.557A>G",
"hgvs_p": "p.Lys186Arg",
"transcript": "ENST00000892682.1",
"protein_id": "ENSP00000562741.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 739,
"cds_start": 557,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892682.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.557A>G",
"hgvs_p": "p.Lys186Arg",
"transcript": "ENST00000969172.1",
"protein_id": "ENSP00000639231.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 713,
"cds_start": 557,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969172.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"transcript": "ENST00000922934.1",
"protein_id": "ENSP00000592993.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 709,
"cds_start": 569,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922934.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Lys185Arg",
"transcript": "ENST00000969169.1",
"protein_id": "ENSP00000639228.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 704,
"cds_start": 554,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969169.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.557A>G",
"hgvs_p": "p.Lys186Arg",
"transcript": "ENST00000969170.1",
"protein_id": "ENSP00000639229.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 692,
"cds_start": 557,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969170.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.557A>G",
"hgvs_p": "p.Lys186Arg",
"transcript": "ENST00000969168.1",
"protein_id": "ENSP00000639227.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 670,
"cds_start": 557,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969168.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.557A>G",
"hgvs_p": "p.Lys186Arg",
"transcript": "ENST00000892680.1",
"protein_id": "ENSP00000562739.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 666,
"cds_start": 557,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892680.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.377A>G",
"hgvs_p": "p.Lys126Arg",
"transcript": "ENST00000922932.1",
"protein_id": "ENSP00000592991.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 645,
"cds_start": 377,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922932.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.398A>G",
"hgvs_p": "p.Lys133Arg",
"transcript": "ENST00000449635.5",
"protein_id": "ENSP00000399405.1",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 286,
"cds_start": 398,
"cds_end": null,
"cds_length": 863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449635.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.557A>G",
"hgvs_p": "p.Lys186Arg",
"transcript": "XM_047441536.1",
"protein_id": "XP_047297492.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 631,
"cds_start": 557,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441536.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.423A>G",
"hgvs_p": "p.Glu141Glu",
"transcript": "ENST00000892681.1",
"protein_id": "ENSP00000562740.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 621,
"cds_start": 423,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892681.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.423A>G",
"hgvs_p": "p.Glu141Glu",
"transcript": "ENST00000969171.1",
"protein_id": "ENSP00000639230.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 582,
"cds_start": 423,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969171.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.423A>G",
"hgvs_p": "p.Glu141Glu",
"transcript": "XM_017028976.2",
"protein_id": "XP_016884465.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 621,
"cds_start": 423,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028976.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.397-2260A>G",
"hgvs_p": null,
"transcript": "ENST00000922933.1",
"protein_id": "ENSP00000592992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922933.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2-AS1",
"gene_hgnc_id": 40847,
"hgvs_c": "n.406T>C",
"hgvs_p": null,
"transcript": "ENST00000441316.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000441316.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "n.533A>G",
"hgvs_p": null,
"transcript": "ENST00000450939.1",
"protein_id": "ENSP00000403767.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000450939.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2-AS1",
"gene_hgnc_id": 40847,
"hgvs_c": "n.383T>C",
"hgvs_p": null,
"transcript": "ENST00000451176.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000451176.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "n.557A>G",
"hgvs_p": null,
"transcript": "ENST00000452106.5",
"protein_id": "ENSP00000414423.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000452106.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "n.599A>G",
"hgvs_p": null,
"transcript": "ENST00000479978.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000479978.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "n.680A>G",
"hgvs_p": null,
"transcript": "ENST00000481902.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000481902.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "n.737A>G",
"hgvs_p": null,
"transcript": "ENST00000489136.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000489136.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2-AS1",
"gene_hgnc_id": 40847,
"hgvs_c": "n.752T>C",
"hgvs_p": null,
"transcript": "ENST00000658453.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000658453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2-AS1",
"gene_hgnc_id": 40847,
"hgvs_c": "n.469T>C",
"hgvs_p": null,
"transcript": "NR_148200.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_148200.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2-AS1",
"gene_hgnc_id": 40847,
"hgvs_c": "n.228-7208T>C",
"hgvs_p": null,
"transcript": "ENST00000657161.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000657161.1"
}
],
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"dbsnp": "rs764867743",
"frequency_reference_population": 0.000008675026,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000752571,
"gnomad_genomes_af": 0.0000197145,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04999667406082153,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.231,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_031488.5",
"gene_symbol": "L3MBTL2",
"hgnc_id": 18594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.557A>G",
"hgvs_p": "p.Lys186Arg"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000441316.2",
"gene_symbol": "L3MBTL2-AS1",
"hgnc_id": 40847,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.406T>C",
"hgvs_p": null
}
],
"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
}