← Back to variant description
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: 1-93264702-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=93264702&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 93264702,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001378204.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "NM_001378204.1",
"protein_id": "NP_001365133.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3817,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": "ENST00000690025.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378204.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "ENST00000690025.1",
"protein_id": "ENSP00000510597.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3817,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": "NM_001378204.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690025.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "ENST00000401026.7",
"protein_id": "ENSP00000383808.3",
"transcript_support_level": 1,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4208,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401026.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.442T>C",
"hgvs_p": null,
"transcript": "ENST00000447456.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000447456.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "ENST00000935053.1",
"protein_id": "ENSP00000605112.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3899,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935053.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "ENST00000935055.1",
"protein_id": "ENSP00000605114.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 5449,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935055.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3683T>C",
"hgvs_p": "p.Met1228Thr",
"transcript": "NM_001306076.1",
"protein_id": "NP_001293005.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3683,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306076.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3683T>C",
"hgvs_p": "p.Met1228Thr",
"transcript": "ENST00000343253.11",
"protein_id": "ENSP00000343377.7",
"transcript_support_level": 5,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3683,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 4185,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343253.11"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3683T>C",
"hgvs_p": "p.Met1228Thr",
"transcript": "ENST00000370276.6",
"protein_id": "ENSP00000359299.2",
"transcript_support_level": 5,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3683,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3844,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370276.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3638T>C",
"hgvs_p": "p.Met1213Thr",
"transcript": "ENST00000935054.1",
"protein_id": "ENSP00000605113.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1439,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4320,
"cdna_start": 3784,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935054.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "NM_206886.4",
"protein_id": "NP_996769.3",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3855,
"cdna_end": null,
"cdna_length": 4322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206886.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "ENST00000935051.1",
"protein_id": "ENSP00000605110.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4049,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935051.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "ENST00000935052.1",
"protein_id": "ENSP00000605111.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935052.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3683T>C",
"hgvs_p": "p.Met1228Thr",
"transcript": "ENST00000956829.1",
"protein_id": "ENSP00000626888.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3683,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 4208,
"cdna_end": null,
"cdna_length": 4543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956829.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3554T>C",
"hgvs_p": "p.Met1185Thr",
"transcript": "ENST00000956828.1",
"protein_id": "ENSP00000626887.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3554,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 4080,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956828.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "XM_017001154.3",
"protein_id": "XP_016856643.2",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 3855,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001154.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "XM_017001156.3",
"protein_id": "XP_016856645.2",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 3817,
"cdna_end": null,
"cdna_length": 6036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001156.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "XM_017001162.3",
"protein_id": "XP_016856651.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 3777,
"cdna_end": null,
"cdna_length": 5996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001162.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "XM_017001164.3",
"protein_id": "XP_016856653.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 3764,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001164.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3683T>C",
"hgvs_p": "p.Met1228Thr",
"transcript": "XM_017001155.3",
"protein_id": "XP_016856644.2",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3683,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 6071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001155.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3683T>C",
"hgvs_p": "p.Met1228Thr",
"transcript": "XM_047419444.1",
"protein_id": "XP_047275400.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3683,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 3814,
"cdna_end": null,
"cdna_length": 6033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419444.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3638T>C",
"hgvs_p": "p.Met1213Thr",
"transcript": "XM_017001157.3",
"protein_id": "XP_016856646.2",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1481,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 3807,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001157.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3638T>C",
"hgvs_p": "p.Met1213Thr",
"transcript": "XM_047419459.1",
"protein_id": "XP_047275415.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1481,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 3769,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419459.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3635T>C",
"hgvs_p": "p.Met1212Thr",
"transcript": "XM_047419449.1",
"protein_id": "XP_047275405.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1480,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 3804,
"cdna_end": null,
"cdna_length": 6023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419449.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3635T>C",
"hgvs_p": "p.Met1212Thr",
"transcript": "XM_047419468.1",
"protein_id": "XP_047275424.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1480,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 3766,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419468.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "XM_011541361.4",
"protein_id": "XP_011539663.3",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1455,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3855,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541361.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3683T>C",
"hgvs_p": "p.Met1228Thr",
"transcript": "XM_047419483.1",
"protein_id": "XP_047275439.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3683,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3814,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419483.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3554T>C",
"hgvs_p": "p.Met1185Thr",
"transcript": "XM_017001159.3",
"protein_id": "XP_016856648.2",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3554,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 3723,
"cdna_end": null,
"cdna_length": 5942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001159.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3554T>C",
"hgvs_p": "p.Met1185Thr",
"transcript": "XM_047419488.1",
"protein_id": "XP_047275444.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3554,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 3685,
"cdna_end": null,
"cdna_length": 5904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419488.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3551T>C",
"hgvs_p": "p.Met1184Thr",
"transcript": "XM_047419476.1",
"protein_id": "XP_047275432.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3551,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 3720,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419476.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3551T>C",
"hgvs_p": "p.Met1184Thr",
"transcript": "XM_047419490.1",
"protein_id": "XP_047275446.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3551,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 3682,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419490.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3542T>C",
"hgvs_p": "p.Met1181Thr",
"transcript": "XM_017001160.3",
"protein_id": "XP_016856649.2",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1449,
"cds_start": 3542,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 3711,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001160.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3539T>C",
"hgvs_p": "p.Met1180Thr",
"transcript": "XM_047419482.1",
"protein_id": "XP_047275438.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3539,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 3708,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419482.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3635T>C",
"hgvs_p": "p.Met1212Thr",
"transcript": "XM_047419492.1",
"protein_id": "XP_047275448.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 3804,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419492.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3506T>C",
"hgvs_p": "p.Met1169Thr",
"transcript": "XM_047419493.1",
"protein_id": "XP_047275449.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3506,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3675,
"cdna_end": null,
"cdna_length": 5894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419493.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3419T>C",
"hgvs_p": "p.Met1140Thr",
"transcript": "XM_047419508.1",
"protein_id": "XP_047275464.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3419,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 3519,
"cdna_end": null,
"cdna_length": 5738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419508.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3542T>C",
"hgvs_p": "p.Met1181Thr",
"transcript": "XM_017001161.3",
"protein_id": "XP_016856650.2",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1407,
"cds_start": 3542,
"cds_end": null,
"cds_length": 4224,
"cdna_start": 3711,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001161.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3416T>C",
"hgvs_p": "p.Met1139Thr",
"transcript": "XM_047419512.1",
"protein_id": "XP_047275468.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1407,
"cds_start": 3416,
"cds_end": null,
"cds_length": 4224,
"cdna_start": 3516,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419512.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3383T>C",
"hgvs_p": "p.Met1128Thr",
"transcript": "XM_017001167.3",
"protein_id": "XP_016856656.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1396,
"cds_start": 3383,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 3512,
"cdna_end": null,
"cdna_length": 5731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001167.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3287T>C",
"hgvs_p": "p.Met1096Thr",
"transcript": "XM_047419525.1",
"protein_id": "XP_047275481.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3287,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419525.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3239T>C",
"hgvs_p": "p.Met1080Thr",
"transcript": "XM_047419527.1",
"protein_id": "XP_047275483.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3239,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 5558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419527.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr",
"transcript": "XM_047419510.1",
"protein_id": "XP_047275466.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3817,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419510.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3683T>C",
"hgvs_p": "p.Met1228Thr",
"transcript": "XM_047419507.1",
"protein_id": "XP_047275463.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3683,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3852,
"cdna_end": null,
"cdna_length": 4319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419507.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3683T>C",
"hgvs_p": "p.Met1228Thr",
"transcript": "XM_047419513.1",
"protein_id": "XP_047275469.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3683,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 3814,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419513.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3551T>C",
"hgvs_p": "p.Met1184Thr",
"transcript": "XM_047419514.1",
"protein_id": "XP_047275470.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3551,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 3720,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419514.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3542T>C",
"hgvs_p": "p.Met1181Thr",
"transcript": "XM_047419516.1",
"protein_id": "XP_047275472.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3542,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3711,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419516.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3542T>C",
"hgvs_p": "p.Met1181Thr",
"transcript": "XM_047419526.1",
"protein_id": "XP_047275482.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3542,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3673,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419526.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3494T>C",
"hgvs_p": "p.Met1165Thr",
"transcript": "XM_047419520.1",
"protein_id": "XP_047275476.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3663,
"cdna_end": null,
"cdna_length": 11327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419520.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.2723T>C",
"hgvs_p": "p.Met908Thr",
"transcript": "XM_047419528.1",
"protein_id": "XP_047275484.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1176,
"cds_start": 2723,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 2857,
"cdna_end": null,
"cdna_length": 5076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419528.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.1670T>C",
"hgvs_p": "p.Met557Thr",
"transcript": "XM_017001171.3",
"protein_id": "XP_016856660.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 825,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001171.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.397A>G",
"hgvs_p": null,
"transcript": "ENST00000414430.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 427,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000414430.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.393A>G",
"hgvs_p": null,
"transcript": "ENST00000415150.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 448,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000415150.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.245A>G",
"hgvs_p": null,
"transcript": "ENST00000424517.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 270,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000424517.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.358A>G",
"hgvs_p": null,
"transcript": "ENST00000427669.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 383,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000427669.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.392A>G",
"hgvs_p": null,
"transcript": "ENST00000429859.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 418,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000429859.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.325A>G",
"hgvs_p": null,
"transcript": "ENST00000442860.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 358,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000442860.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.432A>G",
"hgvs_p": null,
"transcript": "ENST00000446528.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 489,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000446528.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.380A>G",
"hgvs_p": null,
"transcript": "ENST00000447577.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 431,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000447577.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.1155A>G",
"hgvs_p": null,
"transcript": "ENST00000451302.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000451302.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.247A>G",
"hgvs_p": null,
"transcript": "ENST00000455474.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 299,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000455474.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.351A>G",
"hgvs_p": null,
"transcript": "ENST00000457025.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 413,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000457025.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.257A>G",
"hgvs_p": null,
"transcript": "ENST00000602488.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 321,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000602488.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.716A>G",
"hgvs_p": null,
"transcript": "ENST00000668257.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000668257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.*586T>C",
"hgvs_p": null,
"transcript": "ENST00000688770.1",
"protein_id": "ENSP00000510046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688770.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.*3270T>C",
"hgvs_p": null,
"transcript": "ENST00000690592.1",
"protein_id": "ENSP00000508593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690592.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.*2724T>C",
"hgvs_p": null,
"transcript": "ENST00000692873.1",
"protein_id": "ENSP00000509021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000692873.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.954A>G",
"hgvs_p": null,
"transcript": "ENST00000832692.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.381A>G",
"hgvs_p": null,
"transcript": "ENST00000832693.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 423,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832693.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.460A>G",
"hgvs_p": null,
"transcript": "ENST00000832694.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 501,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832694.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.670A>G",
"hgvs_p": null,
"transcript": "ENST00000832695.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 704,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832695.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.200A>G",
"hgvs_p": null,
"transcript": "ENST00000832696.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 252,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832696.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.*586T>C",
"hgvs_p": null,
"transcript": "ENST00000688770.1",
"protein_id": "ENSP00000510046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688770.1"
},
{
"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": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.*3270T>C",
"hgvs_p": null,
"transcript": "ENST00000690592.1",
"protein_id": "ENSP00000508593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690592.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.*2724T>C",
"hgvs_p": null,
"transcript": "ENST00000692873.1",
"protein_id": "ENSP00000509021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000692873.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.595-2341A>G",
"hgvs_p": null,
"transcript": "ENST00000413606.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 770,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000413606.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18-AS1",
"gene_hgnc_id": 52262,
"hgvs_c": "n.*3A>G",
"hgvs_p": null,
"transcript": "ENST00000661111.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000661111.1"
}
],
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"dbsnp": "rs367601314",
"frequency_reference_population": 0.000003126614,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000276439,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43881404399871826,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4560000002384186,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.3957,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.043,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.751844565092942,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001378204.1",
"gene_symbol": "CCDC18",
"hgnc_id": 30370,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3686T>C",
"hgvs_p": "p.Met1229Thr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000414430.5",
"gene_symbol": "CCDC18-AS1",
"hgnc_id": 52262,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.397A>G",
"hgvs_p": null
}
],
"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
}