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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: 3-129519177-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129519177&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 129519177,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000348417.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Leu1154Leu",
"transcript": "NM_052989.3",
"protein_id": "NP_443715.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3569,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "ENST00000348417.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Leu1154Leu",
"transcript": "ENST00000348417.7",
"protein_id": "ENSP00000324005.4",
"transcript_support_level": 1,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3569,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "NM_052989.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3615G>A",
"hgvs_p": "p.Leu1205Leu",
"transcript": "ENST00000296266.7",
"protein_id": "ENSP00000296266.3",
"transcript_support_level": 1,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3615,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3807,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3441G>A",
"hgvs_p": "p.Leu1147Leu",
"transcript": "ENST00000507564.5",
"protein_id": "ENSP00000425536.1",
"transcript_support_level": 1,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Leu1095Leu",
"transcript": "ENST00000347300.6",
"protein_id": "ENSP00000323973.3",
"transcript_support_level": 1,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3285,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3491,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3132G>A",
"hgvs_p": "p.Leu1044Leu",
"transcript": "ENST00000349441.6",
"protein_id": "ENSP00000324165.3",
"transcript_support_level": 1,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3132,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3219,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3615G>A",
"hgvs_p": "p.Leu1205Leu",
"transcript": "NM_052985.4",
"protein_id": "NP_443711.2",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3615,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 3722,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Leu1154Leu",
"transcript": "ENST00000689643.1",
"protein_id": "ENSP00000509801.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3465G>A",
"hgvs_p": "p.Leu1155Leu",
"transcript": "NM_001410808.1",
"protein_id": "NP_001397737.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3465,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 3572,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3465G>A",
"hgvs_p": "p.Leu1155Leu",
"transcript": "ENST00000692242.1",
"protein_id": "ENSP00000509878.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3465,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3441G>A",
"hgvs_p": "p.Leu1147Leu",
"transcript": "NM_001280541.2",
"protein_id": "NP_001267470.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 3548,
"cdna_end": null,
"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3438G>A",
"hgvs_p": "p.Leu1146Leu",
"transcript": "ENST00000689313.1",
"protein_id": "ENSP00000509012.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3438,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3664,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Leu1137Leu",
"transcript": "ENST00000687377.1",
"protein_id": "ENSP00000509225.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3411,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 3615,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3408G>A",
"hgvs_p": "p.Leu1136Leu",
"transcript": "NM_001410809.1",
"protein_id": "NP_001397738.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3408,
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"cds_length": 3672,
"cdna_start": 3515,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3408G>A",
"hgvs_p": "p.Leu1136Leu",
"transcript": "ENST00000693129.1",
"protein_id": "ENSP00000509806.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3408,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3605,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3399G>A",
"hgvs_p": "p.Leu1133Leu",
"transcript": "ENST00000693489.1",
"protein_id": "ENSP00000509656.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3399,
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"cdna_start": 3603,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3285G>A",
"hgvs_p": "p.Leu1095Leu",
"transcript": "ENST00000691733.1",
"protein_id": "ENSP00000509735.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3285,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3309G>A",
"hgvs_p": "p.Leu1103Leu",
"transcript": "NM_001438637.1",
"protein_id": "NP_001425566.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3309,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 3416,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3231G>A",
"hgvs_p": "p.Leu1077Leu",
"transcript": "ENST00000690862.1",
"protein_id": "ENSP00000509210.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3231,
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"cdna_start": 3428,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Leu1102Leu",
"transcript": "NM_001438638.1",
"protein_id": "NP_001425567.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3306,
"cds_end": null,
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"cdna_start": 3413,
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"cdna_length": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Leu1102Leu",
"transcript": "ENST00000688020.1",
"protein_id": "ENSP00000508904.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3306,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3407,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.3288G>A",
"hgvs_p": "p.Leu1096Leu",
"transcript": "NM_001410810.1",
"protein_id": "NP_001397739.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1183,
"cds_start": 3288,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 3395,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
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"protein_id": "ENSP00000508738.1",
"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": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "n.*473G>A",
"hgvs_p": null,
"transcript": "ENST00000693162.1",
"protein_id": "ENSP00000509103.1",
"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": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"dbsnp": "rs150692598",
"frequency_reference_population": 0.00021747698,
"hom_count_reference_population": 0,
"allele_count_reference_population": 351,
"gnomad_exomes_af": 0.000121102,
"gnomad_genomes_af": 0.00114187,
"gnomad_exomes_ac": 177,
"gnomad_genomes_ac": 174,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.484,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000348417.7",
"gene_symbol": "IFT122",
"hgnc_id": 13556,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Leu1154Leu"
}
],
"clinvar_disease": "Cranioectodermal dysplasia 1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Cranioectodermal dysplasia 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}