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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: 13-27553271-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=27553271&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 27553271,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153371.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "NM_153371.4",
"protein_id": "NP_699202.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316334.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153371.4"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "ENST00000316334.5",
"protein_id": "ENSP00000325929.3",
"transcript_support_level": 1,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153371.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316334.5"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "ENST00000649248.1",
"protein_id": "ENSP00000497224.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649248.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "ENST00000869675.1",
"protein_id": "ENSP00000539734.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869675.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "ENST00000869676.1",
"protein_id": "ENSP00000539735.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869676.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "ENST00000869677.1",
"protein_id": "ENSP00000539736.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869677.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "ENST00000869681.1",
"protein_id": "ENSP00000539740.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869681.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "ENST00000869683.1",
"protein_id": "ENSP00000539742.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869683.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "ENST00000952571.1",
"protein_id": "ENSP00000622630.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952571.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1574T>G",
"hgvs_p": "p.Phe525Cys",
"transcript": "ENST00000869678.1",
"protein_id": "ENSP00000539737.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 643,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869678.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1574T>G",
"hgvs_p": "p.Phe525Cys",
"transcript": "ENST00000869680.1",
"protein_id": "ENSP00000539739.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 643,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869680.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1571T>G",
"hgvs_p": "p.Phe524Cys",
"transcript": "ENST00000940589.1",
"protein_id": "ENSP00000610648.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 642,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940589.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1346T>G",
"hgvs_p": "p.Phe449Cys",
"transcript": "ENST00000869679.1",
"protein_id": "ENSP00000539738.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 567,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869679.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1346T>G",
"hgvs_p": "p.Phe449Cys",
"transcript": "ENST00000869682.1",
"protein_id": "ENSP00000539741.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 567,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869682.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1346T>G",
"hgvs_p": "p.Phe449Cys",
"transcript": "ENST00000952572.1",
"protein_id": "ENSP00000622631.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 567,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952572.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1202T>G",
"hgvs_p": "p.Phe401Cys",
"transcript": "ENST00000952573.1",
"protein_id": "ENSP00000622632.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 519,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952573.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "XM_017020434.2",
"protein_id": "XP_016875923.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020434.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "XM_047430145.1",
"protein_id": "XP_047286101.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430145.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "XM_047430147.1",
"protein_id": "XP_047286103.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430147.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "XM_047430148.1",
"protein_id": "XP_047286104.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430148.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "XM_047430149.1",
"protein_id": "XP_047286105.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430149.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys",
"transcript": "XM_047430150.1",
"protein_id": "XP_047286106.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430150.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1346T>G",
"hgvs_p": "p.Phe449Cys",
"transcript": "XM_011534995.3",
"protein_id": "XP_011533297.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 567,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534995.3"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"hgvs_c": "c.1346T>G",
"hgvs_p": "p.Phe449Cys",
"transcript": "XM_047430151.1",
"protein_id": "XP_047286107.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 567,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430151.1"
}
],
"gene_symbol": "LNX2",
"gene_hgnc_id": 20421,
"dbsnp": "rs748437831",
"frequency_reference_population": 0.0000024779863,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": 0.0000131296,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10228627920150757,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.0803,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.948,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153371.4",
"gene_symbol": "LNX2",
"hgnc_id": 20421,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Phe572Cys"
}
],
"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
}