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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: 22-41209796-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41209796&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41209796,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031488.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "NM_031488.5",
"protein_id": "NP_113676.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 705,
"cds_start": 125,
"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": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000216237.10",
"protein_id": "ENSP00000216237.5",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 705,
"cds_start": 125,
"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": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "n.179G>A",
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000892682.1",
"protein_id": "ENSP00000562741.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 739,
"cds_start": 125,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000969172.1",
"protein_id": "ENSP00000639231.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 713,
"cds_start": 125,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000922934.1",
"protein_id": "ENSP00000592993.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 709,
"cds_start": 125,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Ser41Asn",
"transcript": "ENST00000969169.1",
"protein_id": "ENSP00000639228.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 704,
"cds_start": 122,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000969170.1",
"protein_id": "ENSP00000639229.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 692,
"cds_start": 125,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000969168.1",
"protein_id": "ENSP00000639227.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 670,
"cds_start": 125,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000892680.1",
"protein_id": "ENSP00000562739.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 666,
"cds_start": 125,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000922933.1",
"protein_id": "ENSP00000592992.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 637,
"cds_start": 125,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000892681.1",
"protein_id": "ENSP00000562740.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 621,
"cds_start": 125,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000969171.1",
"protein_id": "ENSP00000639230.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 582,
"cds_start": 125,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Val34Met",
"transcript": "ENST00000449635.5",
"protein_id": "ENSP00000399405.1",
"transcript_support_level": 3,
"aa_start": 34,
"aa_end": null,
"aa_length": 286,
"cds_start": 100,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "XM_047441536.1",
"protein_id": "XP_047297492.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 631,
"cds_start": 125,
"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": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "XM_017028976.2",
"protein_id": "XP_016884465.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 621,
"cds_start": 125,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "c.82+43G>A",
"hgvs_p": null,
"transcript": "ENST00000922932.1",
"protein_id": "ENSP00000592991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"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.1597C>T",
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "n.101G>A",
"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": 3,
"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.666C>T",
"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": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "n.125G>A",
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"hgvs_c": "n.319G>A",
"hgvs_p": null,
"transcript": "ENST00000453659.1",
"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": "ENST00000453659.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 15,
"intron_rank": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000479978.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
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"hgvs_c": "n.206G>A",
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"transcript": "ENST00000481902.5",
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"biotype": "retained_intron",
"feature": "ENST00000481902.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2",
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"hgvs_c": "n.305G>A",
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"transcript": "ENST00000489136.5",
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"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489136.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2-AS1",
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"hgvs_c": "n.383C>T",
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"transcript": "ENST00000657161.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000657161.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3MBTL2-AS1",
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"hgvs_c": "n.2109C>T",
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"transcript": "ENST00000658453.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000658453.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"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.1826C>T",
"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"
}
],
"gene_symbol": "L3MBTL2",
"gene_hgnc_id": 18594,
"dbsnp": "rs1313777579",
"frequency_reference_population": 0.000023257628,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000232576,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41834574937820435,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.167,
"revel_prediction": "Benign",
"alphamissense_score": 0.1307,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.99,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031488.5",
"gene_symbol": "L3MBTL2",
"hgnc_id": 18594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000441316.2",
"gene_symbol": "L3MBTL2-AS1",
"hgnc_id": 40847,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1597C>T",
"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
}