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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: 17-57675040-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=57675040&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 57675040,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_138962.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Ser",
"transcript": "NM_138962.4",
"protein_id": "NP_620412.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 328,
"cds_start": 859,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": "ENST00000284073.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138962.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Ser",
"transcript": "ENST00000284073.7",
"protein_id": "ENSP00000284073.2",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 328,
"cds_start": 859,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": "NM_138962.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284073.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Gly315Ser",
"transcript": "ENST00000902711.1",
"protein_id": "ENSP00000572770.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 356,
"cds_start": 943,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902711.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Ser",
"transcript": "ENST00000902712.1",
"protein_id": "ENSP00000572771.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 342,
"cds_start": 901,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902712.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"transcript": "ENST00000675656.1",
"protein_id": "ENSP00000501595.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 341,
"cds_start": 898,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675656.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Gly295Ser",
"transcript": "ENST00000902709.1",
"protein_id": "ENSP00000572768.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 336,
"cds_start": 883,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902709.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Ser",
"transcript": "ENST00000674522.2",
"protein_id": "ENSP00000501836.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 328,
"cds_start": 859,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 6306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674522.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Ser",
"transcript": "ENST00000674964.1",
"protein_id": "ENSP00000502137.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 328,
"cds_start": 859,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 6301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674964.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Ser",
"transcript": "ENST00000902710.1",
"protein_id": "ENSP00000572769.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 328,
"cds_start": 859,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 5821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902710.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Ser",
"transcript": "ENST00000940605.1",
"protein_id": "ENSP00000610664.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 328,
"cds_start": 859,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940605.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Gly283Ser",
"transcript": "NM_001322250.2",
"protein_id": "NP_001309179.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 324,
"cds_start": 847,
"cds_end": null,
"cds_length": 975,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 6282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322250.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Gly283Ser",
"transcript": "ENST00000416426.6",
"protein_id": "ENSP00000414671.2",
"transcript_support_level": 2,
"aa_start": 283,
"aa_end": null,
"aa_length": 324,
"cds_start": 847,
"cds_end": null,
"cds_length": 975,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416426.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Gly266Ser",
"transcript": "ENST00000902708.1",
"protein_id": "ENSP00000572767.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 307,
"cds_start": 796,
"cds_end": null,
"cds_length": 924,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902708.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Gly226Ser",
"transcript": "ENST00000442934.6",
"protein_id": "ENSP00000392607.2",
"transcript_support_level": 2,
"aa_start": 226,
"aa_end": null,
"aa_length": 267,
"cds_start": 676,
"cds_end": null,
"cds_length": 804,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442934.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Gly305Ser",
"transcript": "XM_005257015.4",
"protein_id": "XP_005257072.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 346,
"cds_start": 913,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 6360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257015.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Ser",
"transcript": "XM_047435311.1",
"protein_id": "XP_047291267.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 328,
"cds_start": 859,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 6306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435311.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Gly274Ser",
"transcript": "XM_047435312.1",
"protein_id": "XP_047291268.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 315,
"cds_start": 820,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 6267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435312.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Gly189Ser",
"transcript": "XM_047435315.1",
"protein_id": "XP_047291271.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 230,
"cds_start": 565,
"cds_end": null,
"cds_length": 693,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435315.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Gly171Ser",
"transcript": "XM_047435316.1",
"protein_id": "XP_047291272.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 212,
"cds_start": 511,
"cds_end": null,
"cds_length": 639,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 5809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435316.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.791-4509G>A",
"hgvs_p": null,
"transcript": "ENST00000851004.1",
"protein_id": "ENSP00000521079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851004.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.62-4509G>A",
"hgvs_p": null,
"transcript": "ENST00000675379.1",
"protein_id": "ENSP00000502532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "c.790+22879G>A",
"hgvs_p": null,
"transcript": "XM_047435313.1",
"protein_id": "XP_047291269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": null,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435313.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MSI2",
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"hgvs_c": "c.790+22879G>A",
"hgvs_p": null,
"transcript": "XM_047435314.1",
"protein_id": "XP_047291270.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": null,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "n.170G>A",
"hgvs_p": null,
"transcript": "ENST00000579466.1",
"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": 186,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000579466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "n.558G>A",
"hgvs_p": null,
"transcript": "ENST00000579505.5",
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000579505.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "n.180G>A",
"hgvs_p": null,
"transcript": "ENST00000675127.1",
"protein_id": "ENSP00000502546.1",
"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": 341,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675127.1"
}
],
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"dbsnp": "rs1221930442",
"frequency_reference_population": 0.00000615713,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615713,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6298949718475342,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.472,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0938,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.56,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_138962.4",
"gene_symbol": "MSI2",
"hgnc_id": 18585,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Gly287Ser"
}
],
"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
}