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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: 5-1320631-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=1320631&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 1320631,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030782.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1517A>G",
"hgvs_p": "p.Tyr506Cys",
"transcript": "NM_030782.5",
"protein_id": "NP_110409.2",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 538,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320895.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030782.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1517A>G",
"hgvs_p": "p.Tyr506Cys",
"transcript": "ENST00000320895.10",
"protein_id": "ENSP00000313854.5",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 538,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030782.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320895.10"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.Tyr337Cys",
"transcript": "ENST00000507807.3",
"protein_id": "ENSP00000423321.1",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 369,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507807.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1721A>G",
"hgvs_p": "p.Tyr574Cys",
"transcript": "ENST00000966757.1",
"protein_id": "ENSP00000636816.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 606,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966757.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1514A>G",
"hgvs_p": "p.Tyr505Cys",
"transcript": "ENST00000879373.1",
"protein_id": "ENSP00000549432.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 537,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879373.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1517A>G",
"hgvs_p": "p.Tyr506Cys",
"transcript": "ENST00000924966.1",
"protein_id": "ENSP00000595025.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 537,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924966.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.Tyr504Cys",
"transcript": "ENST00000966760.1",
"protein_id": "ENSP00000636819.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 536,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966760.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Tyr502Cys",
"transcript": "ENST00000924967.1",
"protein_id": "ENSP00000595026.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 534,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924967.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Tyr491Cys",
"transcript": "ENST00000966756.1",
"protein_id": "ENSP00000636815.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 523,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966756.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1469A>G",
"hgvs_p": "p.Tyr490Cys",
"transcript": "ENST00000924969.1",
"protein_id": "ENSP00000595028.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 522,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924969.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1466A>G",
"hgvs_p": "p.Tyr489Cys",
"transcript": "ENST00000924968.1",
"protein_id": "ENSP00000595027.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 521,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924968.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1451A>G",
"hgvs_p": "p.Tyr484Cys",
"transcript": "ENST00000966759.1",
"protein_id": "ENSP00000636818.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 516,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966759.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1328A>G",
"hgvs_p": "p.Tyr443Cys",
"transcript": "ENST00000966758.1",
"protein_id": "ENSP00000636817.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 475,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966758.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1325A>G",
"hgvs_p": "p.Tyr442Cys",
"transcript": "ENST00000924970.1",
"protein_id": "ENSP00000595029.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 474,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924970.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.Tyr337Cys",
"transcript": "ENST00000630539.1",
"protein_id": "ENSP00000485923.1",
"transcript_support_level": 5,
"aa_start": 337,
"aa_end": null,
"aa_length": 369,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630539.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.1514A>G",
"hgvs_p": "p.Tyr505Cys",
"transcript": "XM_011514144.3",
"protein_id": "XP_011512446.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 537,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514144.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "c.983A>G",
"hgvs_p": "p.Tyr328Cys",
"transcript": "XM_024446222.2",
"protein_id": "XP_024301990.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 360,
"cds_start": 983,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446222.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.2939A>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": null,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.448A>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": null,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.678A>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": null,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.613A>G",
"hgvs_p": null,
"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": null,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.281A>G",
"hgvs_p": null,
"transcript": "ENST00000511268.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000511268.6"
},
{
"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": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.325A>G",
"hgvs_p": null,
"transcript": "ENST00000512451.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000512451.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.212A>G",
"hgvs_p": null,
"transcript": "ENST00000515719.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000515719.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"hgvs_c": "n.*53A>G",
"hgvs_p": null,
"transcript": "ENST00000505914.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505914.5"
}
],
"gene_symbol": "CLPTM1L",
"gene_hgnc_id": 24308,
"dbsnp": "rs952234952",
"frequency_reference_population": 0.000010073928,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.0000100739,
"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": 0.9480496644973755,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.721,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8912,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.365,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_030782.5",
"gene_symbol": "CLPTM1L",
"hgnc_id": 24308,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1517A>G",
"hgvs_p": "p.Tyr506Cys"
}
],
"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
}