← Back to variant description
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: 1-241872080-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=241872080&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 241872080,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000366548.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "NM_130398.4",
"protein_id": "NP_569082.2",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 846,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": "ENST00000366548.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "ENST00000366548.8",
"protein_id": "ENSP00000355506.3",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 846,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": "NM_130398.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "ENST00000348581.9",
"protein_id": "ENSP00000311873.5",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 846,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "ENST00000518483.5",
"protein_id": "ENSP00000430251.1",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 803,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "NM_006027.4",
"protein_id": "NP_006018.4",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 846,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Thr438Met",
"transcript": "NM_001319224.2",
"protein_id": "NP_001306153.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 845,
"cds_start": 1313,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "NM_003686.4",
"protein_id": "NP_003677.4",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 803,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "XM_006711840.3",
"protein_id": "XP_006711903.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 846,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "XM_011544321.3",
"protein_id": "XP_011542623.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 846,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "XM_011544322.2",
"protein_id": "XP_011542624.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 846,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "XM_047434104.1",
"protein_id": "XP_047290060.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 846,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met",
"transcript": "XM_047434106.1",
"protein_id": "XP_047290062.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 846,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Thr438Met",
"transcript": "XM_011544323.3",
"protein_id": "XP_011542625.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 845,
"cds_start": 1313,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Thr438Met",
"transcript": "XM_047434107.1",
"protein_id": "XP_047290063.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 845,
"cds_start": 1313,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Thr438Met",
"transcript": "XM_047434108.1",
"protein_id": "XP_047290064.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 845,
"cds_start": 1313,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Thr438Met",
"transcript": "XM_047434112.1",
"protein_id": "XP_047290068.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 845,
"cds_start": 1313,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Thr399Met",
"transcript": "XM_011544324.3",
"protein_id": "XP_011542626.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 806,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Thr399Met",
"transcript": "XM_017002793.3",
"protein_id": "XP_016858282.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 806,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Thr399Met",
"transcript": "XM_047434121.1",
"protein_id": "XP_047290077.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 806,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Thr399Met",
"transcript": "XM_047434129.1",
"protein_id": "XP_047290085.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 806,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Thr398Met",
"transcript": "XM_047434130.1",
"protein_id": "XP_047290086.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 805,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Thr398Met",
"transcript": "XM_047434139.1",
"protein_id": "XP_047290095.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 805,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Thr398Met",
"transcript": "XM_047434150.1",
"protein_id": "XP_047290106.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 805,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Thr398Met",
"transcript": "XM_047434155.1",
"protein_id": "XP_047290111.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 805,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "XM_011544325.2",
"protein_id": "XP_011542627.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 525,
"cds_start": 353,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Thr117Met",
"transcript": "XM_047434160.1",
"protein_id": "XP_047290116.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 524,
"cds_start": 350,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"dbsnp": "rs4149963",
"frequency_reference_population": 0.08523335,
"hom_count_reference_population": 7709,
"allele_count_reference_population": 137456,
"gnomad_exomes_af": 0.0860017,
"gnomad_genomes_af": 0.0778461,
"gnomad_exomes_ac": 125629,
"gnomad_genomes_ac": 11827,
"gnomad_exomes_homalt": 6989,
"gnomad_genomes_homalt": 720,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005331128835678101,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0923,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.611,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000366548.8",
"gene_symbol": "EXO1",
"hgnc_id": 3511,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Met"
}
],
"clinvar_disease": "EXO1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "EXO1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}