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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: X-109661643-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=109661643&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 109661643,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000672401.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser",
"transcript": "NM_001318510.2",
"protein_id": "NP_001305439.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 670,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": "ENST00000672401.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser",
"transcript": "ENST00000672401.1",
"protein_id": "ENSP00000500273.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 670,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": "NM_001318510.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser",
"transcript": "ENST00000348502.10",
"protein_id": "ENSP00000262835.7",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 670,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1708C>A",
"hgvs_p": "p.Arg570Ser",
"transcript": "NM_001318509.2",
"protein_id": "NP_001305438.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 711,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 5182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1708C>A",
"hgvs_p": "p.Arg570Ser",
"transcript": "NM_001437245.1",
"protein_id": "NP_001424174.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 711,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1708C>A",
"hgvs_p": "p.Arg570Ser",
"transcript": "NM_001437247.1",
"protein_id": "NP_001424176.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 711,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1708C>A",
"hgvs_p": "p.Arg570Ser",
"transcript": "NM_001437248.1",
"protein_id": "NP_001424177.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 711,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1708C>A",
"hgvs_p": "p.Arg570Ser",
"transcript": "NM_022977.3",
"protein_id": "NP_075266.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 711,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 5200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1708C>A",
"hgvs_p": "p.Arg570Ser",
"transcript": "ENST00000340800.7",
"protein_id": "ENSP00000339787.2",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 711,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1708C>A",
"hgvs_p": "p.Arg570Ser",
"transcript": "ENST00000469796.7",
"protein_id": "ENSP00000419171.2",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 711,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 5182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1708C>A",
"hgvs_p": "p.Arg570Ser",
"transcript": "ENST00000502391.6",
"protein_id": "ENSP00000425408.2",
"transcript_support_level": 3,
"aa_start": 570,
"aa_end": null,
"aa_length": 711,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1708C>A",
"hgvs_p": "p.Arg570Ser",
"transcript": "ENST00000671846.1",
"protein_id": "ENSP00000500897.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 711,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser",
"transcript": "NM_001437250.1",
"protein_id": "NP_001424179.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 670,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser",
"transcript": "NM_001437251.1",
"protein_id": "NP_001424180.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 670,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser",
"transcript": "NM_001437252.1",
"protein_id": "NP_001424181.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 670,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser",
"transcript": "NM_001437253.1",
"protein_id": "NP_001424182.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 670,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 4934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser",
"transcript": "NM_004458.3",
"protein_id": "NP_004449.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 670,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 4888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser",
"transcript": "ENST00000672282.1",
"protein_id": "ENSP00000500678.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 670,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser",
"transcript": "ENST00000673016.1",
"protein_id": "ENSP00000499969.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 670,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "c.1552C>A",
"hgvs_p": "p.Arg518Ser",
"transcript": "ENST00000682031.1",
"protein_id": "ENSP00000506881.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 659,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "n.3296C>A",
"hgvs_p": null,
"transcript": "ENST00000683559.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "n.4118C>A",
"hgvs_p": null,
"transcript": "ENST00000684030.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "n.455+1627C>A",
"hgvs_p": null,
"transcript": "ENST00000514500.1",
"protein_id": "ENSP00000423539.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ACSL4",
"gene_hgnc_id": 3571,
"hgvs_c": "n.135-17457C>A",
"hgvs_p": null,
"transcript": "ENST00000684414.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACSL4",
"gene_hgnc_id": 3571,
"dbsnp": "rs122458138",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9903591275215149,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3400000035762787,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.721,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.02,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.34,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000672401.1",
"gene_symbol": "ACSL4",
"hgnc_id": 3571,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1585C>A",
"hgvs_p": "p.Arg529Ser"
}
],
"clinvar_disease": " X-linked 63,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, X-linked 63",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}