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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: 14-24065034-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24065034&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24065034,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138360.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "NM_138360.4",
"protein_id": "NP_612369.3",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3157,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": "ENST00000342740.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138360.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "ENST00000342740.6",
"protein_id": "ENSP00000340467.5",
"transcript_support_level": 5,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3157,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": "NM_138360.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342740.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "n.1511C>T",
"hgvs_p": null,
"transcript": "ENST00000560349.1",
"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": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000560349.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3175C>T",
"hgvs_p": "p.Arg1059Trp",
"transcript": "ENST00000873684.1",
"protein_id": "ENSP00000543743.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3175,
"cds_end": null,
"cds_length": 4131,
"cdna_start": 3306,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873684.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "ENST00000873685.1",
"protein_id": "ENSP00000543744.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3157,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873685.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "ENST00000969240.1",
"protein_id": "ENSP00000639299.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 3292,
"cdna_end": null,
"cdna_length": 4458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969240.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3160C>T",
"hgvs_p": "p.Arg1054Trp",
"transcript": "XM_047431880.1",
"protein_id": "XP_047287836.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3160,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431880.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "XM_047431881.1",
"protein_id": "XP_047287837.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3157,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431881.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3160C>T",
"hgvs_p": "p.Arg1054Trp",
"transcript": "XM_047431882.1",
"protein_id": "XP_047287838.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3160,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431882.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3160C>T",
"hgvs_p": "p.Arg1054Trp",
"transcript": "XM_047431883.1",
"protein_id": "XP_047287839.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3160,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431883.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "XM_047431884.1",
"protein_id": "XP_047287840.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3157,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431884.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3160C>T",
"hgvs_p": "p.Arg1054Trp",
"transcript": "XM_047431885.1",
"protein_id": "XP_047287841.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3160,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431885.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "XM_047431886.1",
"protein_id": "XP_047287842.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3157,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431886.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3160C>T",
"hgvs_p": "p.Arg1054Trp",
"transcript": "XM_047431887.1",
"protein_id": "XP_047287843.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3160,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 4466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431887.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "XM_047431888.1",
"protein_id": "XP_047287844.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431888.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3160C>T",
"hgvs_p": "p.Arg1054Trp",
"transcript": "XM_047431889.1",
"protein_id": "XP_047287845.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3160,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431889.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "XM_047431890.1",
"protein_id": "XP_047287846.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3990,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431890.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3160C>T",
"hgvs_p": "p.Arg1054Trp",
"transcript": "XM_047431891.1",
"protein_id": "XP_047287847.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3160,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431891.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "XM_047431892.1",
"protein_id": "XP_047287848.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431892.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp",
"transcript": "XM_047431893.1",
"protein_id": "XP_047287849.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431893.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.2869C>T",
"hgvs_p": "p.Arg957Trp",
"transcript": "XM_047431894.1",
"protein_id": "XP_047287850.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1277,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 2976,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431894.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.2800C>T",
"hgvs_p": "p.Arg934Trp",
"transcript": "XM_047431895.1",
"protein_id": "XP_047287851.1",
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"aa_start": 934,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2800,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 2873,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431895.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
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"hgvs_c": "n.2687C>T",
"hgvs_p": null,
"transcript": "ENST00000559694.5",
"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": 4319,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000559694.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.70+7410G>A",
"hgvs_p": null,
"transcript": "ENST00000830183.1",
"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": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"hgvs_c": "c.*192C>T",
"hgvs_p": null,
"transcript": "XM_047431896.1",
"protein_id": "XP_047287852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": null,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431896.1"
}
],
"gene_symbol": "CARMIL3",
"gene_hgnc_id": 20272,
"dbsnp": "rs748810187",
"frequency_reference_population": 0.000009600891,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000960089,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34665897488594055,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.5275,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.326,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138360.4",
"gene_symbol": "CARMIL3",
"hgnc_id": 20272,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Trp"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000830183.1",
"gene_symbol": "DHRS4-AS1",
"hgnc_id": 23175,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.70+7410G>A",
"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
}