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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: 17-57675112-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=57675112&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 57675112,
"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.931G>A",
"hgvs_p": "p.Gly311Ser",
"transcript": "NM_138962.4",
"protein_id": "NP_620412.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 328,
"cds_start": 931,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.931G>A",
"hgvs_p": "p.Gly311Ser",
"transcript": "ENST00000284073.7",
"protein_id": "ENSP00000284073.2",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 328,
"cds_start": 931,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.1015G>A",
"hgvs_p": "p.Gly339Ser",
"transcript": "ENST00000902711.1",
"protein_id": "ENSP00000572770.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 356,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.973G>A",
"hgvs_p": "p.Gly325Ser",
"transcript": "ENST00000902712.1",
"protein_id": "ENSP00000572771.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 342,
"cds_start": 973,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.970G>A",
"hgvs_p": "p.Gly324Ser",
"transcript": "ENST00000675656.1",
"protein_id": "ENSP00000501595.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 341,
"cds_start": 970,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.955G>A",
"hgvs_p": "p.Gly319Ser",
"transcript": "ENST00000902709.1",
"protein_id": "ENSP00000572768.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 336,
"cds_start": 955,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.931G>A",
"hgvs_p": "p.Gly311Ser",
"transcript": "ENST00000674522.2",
"protein_id": "ENSP00000501836.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 328,
"cds_start": 931,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.931G>A",
"hgvs_p": "p.Gly311Ser",
"transcript": "ENST00000674964.1",
"protein_id": "ENSP00000502137.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 328,
"cds_start": 931,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.931G>A",
"hgvs_p": "p.Gly311Ser",
"transcript": "ENST00000902710.1",
"protein_id": "ENSP00000572769.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 328,
"cds_start": 931,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.931G>A",
"hgvs_p": "p.Gly311Ser",
"transcript": "ENST00000940605.1",
"protein_id": "ENSP00000610664.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 328,
"cds_start": 931,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.919G>A",
"hgvs_p": "p.Gly307Ser",
"transcript": "NM_001322250.2",
"protein_id": "NP_001309179.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 324,
"cds_start": 919,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.919G>A",
"hgvs_p": "p.Gly307Ser",
"transcript": "ENST00000416426.6",
"protein_id": "ENSP00000414671.2",
"transcript_support_level": 2,
"aa_start": 307,
"aa_end": null,
"aa_length": 324,
"cds_start": 919,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.868G>A",
"hgvs_p": "p.Gly290Ser",
"transcript": "ENST00000902708.1",
"protein_id": "ENSP00000572767.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 307,
"cds_start": 868,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.748G>A",
"hgvs_p": "p.Gly250Ser",
"transcript": "ENST00000442934.6",
"protein_id": "ENSP00000392607.2",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 267,
"cds_start": 748,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.985G>A",
"hgvs_p": "p.Gly329Ser",
"transcript": "XM_005257015.4",
"protein_id": "XP_005257072.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 346,
"cds_start": 985,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.931G>A",
"hgvs_p": "p.Gly311Ser",
"transcript": "XM_047435311.1",
"protein_id": "XP_047291267.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 328,
"cds_start": 931,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.892G>A",
"hgvs_p": "p.Gly298Ser",
"transcript": "XM_047435312.1",
"protein_id": "XP_047291268.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 315,
"cds_start": 892,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "XM_047435315.1",
"protein_id": "XP_047291271.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 230,
"cds_start": 637,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.583G>A",
"hgvs_p": "p.Gly195Ser",
"transcript": "XM_047435316.1",
"protein_id": "XP_047291272.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 212,
"cds_start": 583,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.791-4437G>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": null,
"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.62-4437G>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": null,
"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+22951G>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": null,
"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",
"gene_hgnc_id": 18585,
"hgvs_c": "c.790+22951G>A",
"hgvs_p": null,
"transcript": "XM_047435314.1",
"protein_id": "XP_047291270.1",
"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": null,
"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": 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.*33G>A",
"hgvs_p": null,
"transcript": "ENST00000675127.1",
"protein_id": "ENSP00000502546.1",
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"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": "nonsense_mediated_decay",
"feature": "ENST00000675127.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_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.*33G>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675127.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "n.*56G>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": null,
"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": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"hgvs_c": "n.*53G>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000579505.5"
}
],
"gene_symbol": "MSI2",
"gene_hgnc_id": 18585,
"dbsnp": "rs145329279",
"frequency_reference_population": 0.0000706606,
"hom_count_reference_population": 0,
"allele_count_reference_population": 114,
"gnomad_exomes_af": 0.0000451729,
"gnomad_genomes_af": 0.00031518,
"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 48,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03455337882041931,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.0636,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.706,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_138962.4",
"gene_symbol": "MSI2",
"hgnc_id": 18585,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Ser"
}
],
"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
}