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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: 11-31509960-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31509960&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31509960,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019040.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "NM_019040.5",
"protein_id": "NP_061913.3",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 424,
"cds_start": 176,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 8093,
"mane_select": "ENST00000640961.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000640961.2",
"protein_id": "ENSP00000492152.1",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 424,
"cds_start": 176,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 8093,
"mane_select": "NM_019040.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000395934.2",
"protein_id": "ENSP00000379267.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 535,
"cds_start": 176,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "NM_001288726.2",
"protein_id": "NP_001275655.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 535,
"cds_start": 176,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 8521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "NM_001288725.2",
"protein_id": "NP_001275654.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 476,
"cds_start": 176,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 8235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000379163.10",
"protein_id": "ENSP00000368461.5",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 476,
"cds_start": 176,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000640231.1",
"protein_id": "ENSP00000492475.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 475,
"cds_start": 176,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000640954.1",
"protein_id": "ENSP00000492376.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 450,
"cds_start": 176,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000350638.10",
"protein_id": "ENSP00000298937.9",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 425,
"cds_start": 176,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000640533.1",
"protein_id": "ENSP00000492770.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 425,
"cds_start": 176,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000638482.1",
"protein_id": "ENSP00000491641.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 424,
"cds_start": 176,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000640342.1",
"protein_id": "ENSP00000492628.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 396,
"cds_start": 176,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000638347.1",
"protein_id": "ENSP00000492567.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 395,
"cds_start": 176,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000639570.1",
"protein_id": "ENSP00000491971.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
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"cds_start": 176,
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"cdna_start": 194,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000639878.1",
"protein_id": "ENSP00000491157.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 386,
"cds_start": 176,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.107G>C",
"hgvs_p": "p.Gly36Ala",
"transcript": "ENST00000638184.1",
"protein_id": "ENSP00000491155.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 358,
"cds_start": 107,
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"cdna_start": 109,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala",
"transcript": "ENST00000638764.1",
"protein_id": "ENSP00000491284.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 101,
"cds_start": 176,
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"cds_length": 306,
"cdna_start": 194,
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"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.176G>C",
"hgvs_p": null,
"transcript": "ENST00000474374.5",
"protein_id": "ENSP00000432642.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.68G>C",
"hgvs_p": null,
"transcript": "ENST00000638376.1",
"protein_id": "ENSP00000491326.1",
"transcript_support_level": 5,
"aa_start": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.182G>C",
"hgvs_p": null,
"transcript": "ENST00000638508.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.176G>C",
"hgvs_p": null,
"transcript": "ENST00000638917.1",
"protein_id": "ENSP00000491989.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.59G>C",
"hgvs_p": null,
"transcript": "ENST00000638984.1",
"protein_id": "ENSP00000492604.1",
"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": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.176G>C",
"hgvs_p": null,
"transcript": "ENST00000640081.1",
"protein_id": "ENSP00000491839.1",
"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": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.35G>C",
"hgvs_p": null,
"transcript": "ENST00000640790.1",
"protein_id": "ENSP00000490975.1",
"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": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ELP4",
"gene_hgnc_id": 1171,
"hgvs_c": "n.74G>C",
"hgvs_p": null,
"transcript": "ENST00000640921.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ELP4",
"gene_hgnc_id": 1171,
"dbsnp": "rs764109673",
"frequency_reference_population": 0.0000043400946,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000205381,
"gnomad_genomes_af": 0.0000262864,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.699927568435669,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.225,
"revel_prediction": "Benign",
"alphamissense_score": 0.3879,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.472,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_019040.5",
"gene_symbol": "ELP4",
"hgnc_id": 1171,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Gly59Ala"
}
],
"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
}