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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: 1-93270780-A-ACCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=93270780&ref=A&alt=ACCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 93270780,
"ref": "A",
"alt": "ACCT",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_001378204.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4319_4320insCCT",
"hgvs_p": "p.Lys1440delinsAsnLeu",
"transcript": "NM_001378204.1",
"protein_id": "NP_001365133.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4451,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": "ENST00000690025.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378204.1"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4319_4320insCCT",
"hgvs_p": "p.Lys1440delinsAsnLeu",
"transcript": "ENST00000690025.1",
"protein_id": "ENSP00000510597.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4451,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": "NM_001378204.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3885+5879_3885+5880insCCT",
"hgvs_p": null,
"transcript": "ENST00000401026.7",
"protein_id": "ENSP00000383808.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": null,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401026.7"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4319_4320insCCT",
"hgvs_p": "p.Lys1440delinsAsnLeu",
"transcript": "ENST00000935053.1",
"protein_id": "ENSP00000605112.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4533,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935053.1"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4319_4320insCCT",
"hgvs_p": "p.Lys1440delinsAsnLeu",
"transcript": "ENST00000935055.1",
"protein_id": "ENSP00000605114.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 6083,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935055.1"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4316_4317insCCT",
"hgvs_p": "p.Lys1439delinsAsnLeu",
"transcript": "NM_001306076.1",
"protein_id": "NP_001293005.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4317,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 4486,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306076.1"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4316_4317insCCT",
"hgvs_p": "p.Lys1439delinsAsnLeu",
"transcript": "ENST00000343253.11",
"protein_id": "ENSP00000343377.7",
"transcript_support_level": 5,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4317,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 4819,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343253.11"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4316_4317insCCT",
"hgvs_p": "p.Lys1439delinsAsnLeu",
"transcript": "ENST00000370276.6",
"protein_id": "ENSP00000359299.2",
"transcript_support_level": 5,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4317,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 4478,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370276.6"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4271_4272insCCT",
"hgvs_p": "p.Lys1424delinsAsnLeu",
"transcript": "ENST00000935054.1",
"protein_id": "ENSP00000605113.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1439,
"cds_start": 4272,
"cds_end": null,
"cds_length": 4320,
"cdna_start": 4418,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935054.1"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4319_4320insCCT",
"hgvs_p": "p.Lys1440delinsAsnLeu",
"transcript": "XM_017001154.3",
"protein_id": "XP_016856643.2",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4489,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001154.3"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4319_4320insCCT",
"hgvs_p": "p.Lys1440delinsAsnLeu",
"transcript": "XM_017001156.3",
"protein_id": "XP_016856645.2",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4451,
"cdna_end": null,
"cdna_length": 6036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001156.3"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4319_4320insCCT",
"hgvs_p": "p.Lys1440delinsAsnLeu",
"transcript": "XM_017001162.3",
"protein_id": "XP_016856651.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4411,
"cdna_end": null,
"cdna_length": 5996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001162.3"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4319_4320insCCT",
"hgvs_p": "p.Lys1440delinsAsnLeu",
"transcript": "XM_017001164.3",
"protein_id": "XP_016856653.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4320,
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"cdna_start": 4398,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001164.3"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4316_4317insCCT",
"hgvs_p": "p.Lys1439delinsAsnLeu",
"transcript": "XM_017001155.3",
"protein_id": "XP_016856644.2",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4317,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 4486,
"cdna_end": null,
"cdna_length": 6071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001155.3"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4316_4317insCCT",
"hgvs_p": "p.Lys1439delinsAsnLeu",
"transcript": "XM_047419444.1",
"protein_id": "XP_047275400.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4317,
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"cds_length": 4491,
"cdna_start": 4448,
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"cdna_length": 6033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419444.1"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4271_4272insCCT",
"hgvs_p": "p.Lys1424delinsAsnLeu",
"transcript": "XM_017001157.3",
"protein_id": "XP_016856646.2",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4272,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 4441,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001157.3"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4271_4272insCCT",
"hgvs_p": "p.Lys1424delinsAsnLeu",
"transcript": "XM_047419459.1",
"protein_id": "XP_047275415.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4272,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 4403,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419459.1"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4268_4269insCCT",
"hgvs_p": "p.Lys1423delinsAsnLeu",
"transcript": "XM_047419449.1",
"protein_id": "XP_047275405.1",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
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"cds_start": 4269,
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"cdna_start": 4438,
"cdna_end": null,
"cdna_length": 6023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419449.1"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4268_4269insCCT",
"hgvs_p": "p.Lys1423delinsAsnLeu",
"transcript": "XM_047419468.1",
"protein_id": "XP_047275424.1",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1480,
"cds_start": 4269,
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"cdna_start": 4400,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419468.1"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4319_4320insCCT",
"hgvs_p": "p.Lys1440delinsAsnLeu",
"transcript": "XM_011541361.4",
"protein_id": "XP_011539663.3",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4320,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4489,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541361.4"
},
{
"aa_ref": "K",
"aa_alt": "NL",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.4316_4317insCCT",
"hgvs_p": "p.Lys1439delinsAsnLeu",
"transcript": "XM_047419483.1",
"protein_id": "XP_047275439.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4317,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 4448,
"cdna_end": null,
"cdna_length": 4749,
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{
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{
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},
{
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],
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"gene_symbol": "CCDC18",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000692873.1"
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],
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"dbsnp": "rs560046022",
"frequency_reference_population": 0.0004303661,
"hom_count_reference_population": 1,
"allele_count_reference_population": 665,
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"gnomad_genomes_af": 0.000715467,
"gnomad_exomes_ac": 556,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.926,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "PM4_Supporting,BP6",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001378204.1",
"gene_symbol": "CCDC18",
"hgnc_id": 30370,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4319_4320insCCT",
"hgvs_p": "p.Lys1440delinsAsnLeu"
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{
"score": -1,
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"pathogenic_score": 0,
"criteria": [
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000413606.5",
"gene_symbol": "CCDC18-AS1",
"hgnc_id": 52262,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.595-8420_595-8419insAGG",
"hgvs_p": null
}
],
"clinvar_disease": "CCDC18-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CCDC18-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}