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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: 5-1324786-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=1324786&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 1324786,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030782.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Lys392Glu",
"transcript": "NM_030782.5",
"protein_id": "NP_110409.2",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 538,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": "ENST00000320895.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030782.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Lys392Glu",
"transcript": "ENST00000320895.10",
"protein_id": "ENSP00000313854.5",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 538,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": "NM_030782.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320895.10"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Lys223Glu",
"transcript": "ENST00000507807.3",
"protein_id": "ENSP00000423321.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 369,
"cds_start": 667,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507807.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1378A>G",
"hgvs_p": "p.Lys460Glu",
"transcript": "ENST00000966757.1",
"protein_id": "ENSP00000636816.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 606,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966757.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1171A>G",
"hgvs_p": "p.Lys391Glu",
"transcript": "ENST00000879373.1",
"protein_id": "ENSP00000549432.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 537,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879373.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Lys392Glu",
"transcript": "ENST00000924966.1",
"protein_id": "ENSP00000595025.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 537,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924966.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Lys392Glu",
"transcript": "ENST00000966760.1",
"protein_id": "ENSP00000636819.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 536,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966760.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1162A>G",
"hgvs_p": "p.Lys388Glu",
"transcript": "ENST00000924967.1",
"protein_id": "ENSP00000595026.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 534,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924967.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Lys392Glu",
"transcript": "ENST00000966756.1",
"protein_id": "ENSP00000636815.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 523,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966756.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1171A>G",
"hgvs_p": "p.Lys391Glu",
"transcript": "ENST00000924969.1",
"protein_id": "ENSP00000595028.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 522,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924969.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1108A>G",
"hgvs_p": "p.Lys370Glu",
"transcript": "ENST00000966759.1",
"protein_id": "ENSP00000636818.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 516,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966759.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.985A>G",
"hgvs_p": "p.Lys329Glu",
"transcript": "ENST00000966758.1",
"protein_id": "ENSP00000636817.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 475,
"cds_start": 985,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966758.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.982A>G",
"hgvs_p": "p.Lys328Glu",
"transcript": "ENST00000924970.1",
"protein_id": "ENSP00000595029.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 474,
"cds_start": 982,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924970.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Lys223Glu",
"transcript": "ENST00000630539.1",
"protein_id": "ENSP00000485923.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 369,
"cds_start": 667,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630539.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1171A>G",
"hgvs_p": "p.Lys391Glu",
"transcript": "XM_011514144.3",
"protein_id": "XP_011512446.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 537,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514144.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.640A>G",
"hgvs_p": "p.Lys214Glu",
"transcript": "XM_024446222.2",
"protein_id": "XP_024301990.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 360,
"cds_start": 640,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446222.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1147-917A>G",
"hgvs_p": null,
"transcript": "ENST00000924968.1",
"protein_id": "ENSP00000595027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": null,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924968.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.2596A>G",
"hgvs_p": null,
"transcript": "ENST00000503042.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000503042.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.443A>G",
"hgvs_p": null,
"transcript": "ENST00000503151.5",
"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": 627,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000503151.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.105A>G",
"hgvs_p": null,
"transcript": "ENST00000503534.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 742,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000503534.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.72A>G",
"hgvs_p": null,
"transcript": "ENST00000505605.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 386,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505605.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.335A>G",
"hgvs_p": null,
"transcript": "ENST00000506641.5",
"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": 792,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000506641.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
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"hgvs_c": "n.270A>G",
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"transcript": "ENST00000507195.5",
"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": 628,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000507195.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.525A>G",
"hgvs_p": null,
"transcript": "ENST00000508765.5",
"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": 631,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000508765.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.507A>G",
"hgvs_p": null,
"transcript": "ENST00000513250.1",
"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": 567,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000513250.1"
}
],
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"dbsnp": "rs1561231523",
"frequency_reference_population": 0.0000034203797,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342038,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.191277414560318,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.1611,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.208,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_030782.5",
"gene_symbol": "CLPTM1L",
"hgnc_id": 24308,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Lys392Glu"
}
],
"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
}