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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: 16-725236-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=725236&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 725236,
"ref": "C",
"alt": "T",
"effect": "splice_donor_variant,intron_variant",
"transcript": "ENST00000345165.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.492+1G>A",
"hgvs_p": null,
"transcript": "NM_001378030.1",
"protein_id": "NP_001364959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "ENST00000345165.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.492+1G>A",
"hgvs_p": null,
"transcript": "ENST00000345165.10",
"protein_id": "ENSP00000316851.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "NM_001378030.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.492+1G>A",
"hgvs_p": null,
"transcript": "ENST00000293889.10",
"protein_id": "ENSP00000293889.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"transcript": "NM_001378033.1",
"protein_id": "NP_001364962.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 281,
"cds_start": 40,
"cds_end": null,
"cds_length": 846,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "XM_011522356.2",
"protein_id": "XP_011520658.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 643,
"cds_start": 928,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "XM_011522358.3",
"protein_id": "XP_011520660.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 635,
"cds_start": 928,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Met",
"transcript": "XM_011522359.2",
"protein_id": "XP_011520661.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 632,
"cds_start": 895,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "XM_011522361.2",
"protein_id": "XP_011520663.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 619,
"cds_start": 928,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "XM_017022929.2",
"protein_id": "XP_016878418.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 611,
"cds_start": 928,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "XM_011522362.2",
"protein_id": "XP_011520664.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 600,
"cds_start": 928,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "XM_011522363.2",
"protein_id": "XP_011520665.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 587,
"cds_start": 928,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Val310Met",
"transcript": "XM_011522364.2",
"protein_id": "XP_011520666.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 579,
"cds_start": 928,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Met",
"transcript": "XM_011522365.2",
"protein_id": "XP_011520667.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 572,
"cds_start": 715,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Met",
"transcript": "XM_011522366.2",
"protein_id": "XP_011520668.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 569,
"cds_start": 706,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Val183Met",
"transcript": "XM_011522367.2",
"protein_id": "XP_011520669.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 516,
"cds_start": 547,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Val165Met",
"transcript": "XM_011522369.2",
"protein_id": "XP_011520671.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 498,
"cds_start": 493,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Val137Met",
"transcript": "XM_047433603.1",
"protein_id": "XP_047289559.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 470,
"cds_start": 409,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Val137Met",
"transcript": "XM_047433604.1",
"protein_id": "XP_047289560.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 470,
"cds_start": 409,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "XM_011522370.2",
"protein_id": "XP_011520672.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 442,
"cds_start": 325,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Met",
"transcript": "XM_047433605.1",
"protein_id": "XP_047289561.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 347,
"cds_start": 40,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Val154Met",
"transcript": "XM_047433607.1",
"protein_id": "XP_047289563.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 262,
"cds_start": 460,
"cds_end": null,
"cds_length": 789,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "n.570G>A",
"hgvs_p": null,
"transcript": "ENST00000439619.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "n.460G>A",
"hgvs_p": null,
"transcript": "ENST00000460023.5",
"protein_id": null,
"transcript_support_level": 2,
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"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": -4,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.492+1G>A",
"hgvs_p": null,
"transcript": "XM_006720843.5",
"protein_id": "XP_006720906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.39+1G>A",
"hgvs_p": null,
"transcript": "XM_047433606.1",
"protein_id": "XP_047289562.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"dbsnp": "rs138669350",
"frequency_reference_population": 0.002052345,
"hom_count_reference_population": 8,
"allele_count_reference_population": 3301,
"gnomad_exomes_af": 0.00208296,
"gnomad_genomes_af": 0.00175968,
"gnomad_exomes_ac": 3033,
"gnomad_genomes_ac": 268,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.6880000233650208,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.602,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.7,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999903712904739,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "PVS1_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000345165.10",
"gene_symbol": "CCDC78",
"hgnc_id": 14153,
"effects": [
"splice_donor_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.492+1G>A",
"hgvs_p": null
}
],
"clinvar_disease": "CCDC78-related disorder,Congenital myopathy with internal nuclei and atypical cores,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "Congenital myopathy with internal nuclei and atypical cores|not provided|CCDC78-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}