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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: 9-128352659-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128352659&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128352659,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005094.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "NM_005094.4",
"protein_id": "NP_005085.2",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 643,
"cds_start": 899,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300456.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005094.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000300456.5",
"protein_id": "ENSP00000300456.3",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 643,
"cds_start": 899,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005094.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300456.5"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.232-2519A>G",
"hgvs_p": null,
"transcript": "ENST00000372870.5",
"protein_id": "ENSP00000361961.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372870.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Gln307Arg",
"transcript": "ENST00000875280.1",
"protein_id": "ENSP00000545339.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 650,
"cds_start": 920,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875280.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000875274.1",
"protein_id": "ENSP00000545333.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 643,
"cds_start": 899,
"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": "ENST00000875274.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000875275.1",
"protein_id": "ENSP00000545334.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 643,
"cds_start": 899,
"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": "ENST00000875275.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000963239.1",
"protein_id": "ENSP00000633298.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 643,
"cds_start": 899,
"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": "ENST00000963239.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000936238.1",
"protein_id": "ENSP00000606297.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 623,
"cds_start": 899,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936238.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000875273.1",
"protein_id": "ENSP00000545332.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 616,
"cds_start": 899,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875273.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000875277.1",
"protein_id": "ENSP00000545336.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 613,
"cds_start": 899,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875277.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000936239.1",
"protein_id": "ENSP00000606298.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 598,
"cds_start": 899,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936239.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000936237.1",
"protein_id": "ENSP00000606296.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 596,
"cds_start": 899,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936237.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.Gln246Arg",
"transcript": "ENST00000875276.1",
"protein_id": "ENSP00000545335.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 589,
"cds_start": 737,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875276.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000875278.1",
"protein_id": "ENSP00000545337.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 573,
"cds_start": 899,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875278.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.Gln246Arg",
"transcript": "ENST00000963238.1",
"protein_id": "ENSP00000633297.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 569,
"cds_start": 737,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963238.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "ENST00000963240.1",
"protein_id": "ENSP00000633299.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 564,
"cds_start": 899,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963240.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.Gln246Arg",
"transcript": "ENST00000875279.1",
"protein_id": "ENSP00000545338.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 559,
"cds_start": 737,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875279.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.578A>G",
"hgvs_p": "p.Gln193Arg",
"transcript": "ENST00000875281.1",
"protein_id": "ENSP00000545340.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 536,
"cds_start": 578,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875281.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.Gln246Arg",
"transcript": "ENST00000963242.1",
"protein_id": "ENSP00000633301.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 510,
"cds_start": 737,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963242.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.578A>G",
"hgvs_p": "p.Gln193Arg",
"transcript": "ENST00000963241.1",
"protein_id": "ENSP00000633300.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 509,
"cds_start": 578,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963241.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.Gln311Arg",
"transcript": "XM_047422664.1",
"protein_id": "XP_047278620.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 654,
"cds_start": 932,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422664.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "XM_017014222.2",
"protein_id": "XP_016869711.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 643,
"cds_start": 899,
"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": "XM_017014222.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "XM_024447391.2",
"protein_id": "XP_024303159.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 643,
"cds_start": 899,
"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": "XM_024447391.2"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"hgvs_c": "c.877+2084A>G",
"hgvs_p": null,
"transcript": "ENST00000936236.1",
"protein_id": "ENSP00000606295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936236.1"
}
],
"gene_symbol": "SLC27A4",
"gene_hgnc_id": 10998,
"dbsnp": "rs137853134",
"frequency_reference_population": 0.00015179264,
"hom_count_reference_population": 0,
"allele_count_reference_population": 245,
"gnomad_exomes_af": 0.000160756,
"gnomad_genomes_af": 0.000065703,
"gnomad_exomes_ac": 235,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8961553573608398,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.636,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9617,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PS3",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_005094.4",
"gene_symbol": "SLC27A4",
"hgnc_id": 10998,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg"
}
],
"clinvar_disease": "Ichthyosis prematurity syndrome,Lamellar ichthyosis,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"phenotype_combined": "Ichthyosis prematurity syndrome|not provided|Lamellar ichthyosis",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}