← 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: 3-49890026-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49890026&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49890026,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002447.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3845C>A",
"hgvs_p": "p.Thr1282Lys",
"transcript": "NM_002447.4",
"protein_id": "NP_002438.2",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3845,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 4109,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": "ENST00000296474.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3845C>A",
"hgvs_p": "p.Thr1282Lys",
"transcript": "ENST00000296474.8",
"protein_id": "ENSP00000296474.3",
"transcript_support_level": 1,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3845,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 4109,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": "NM_002447.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3527C>A",
"hgvs_p": "p.Thr1176Lys",
"transcript": "ENST00000621387.4",
"protein_id": "ENSP00000482642.1",
"transcript_support_level": 1,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3527,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3791,
"cdna_end": null,
"cdna_length": 4449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3698C>A",
"hgvs_p": "p.Thr1233Lys",
"transcript": "NM_001244937.3",
"protein_id": "NP_001231866.1",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3698,
"cds_end": null,
"cds_length": 4056,
"cdna_start": 3962,
"cdna_end": null,
"cdna_length": 4625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3698C>A",
"hgvs_p": "p.Thr1233Lys",
"transcript": "ENST00000344206.8",
"protein_id": "ENSP00000341325.4",
"transcript_support_level": 5,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3698,
"cds_end": null,
"cds_length": 4056,
"cdna_start": 3698,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3638C>A",
"hgvs_p": "p.Thr1213Lys",
"transcript": "NM_001437543.1",
"protein_id": "NP_001424472.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3902,
"cdna_end": null,
"cdna_length": 4565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3638C>A",
"hgvs_p": "p.Thr1213Lys",
"transcript": "ENST00000434765.6",
"protein_id": "ENSP00000393294.2",
"transcript_support_level": 5,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1331,
"cds_start": 3638,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3902,
"cdna_end": null,
"cdna_length": 4565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3590C>A",
"hgvs_p": "p.Thr1197Lys",
"transcript": "ENST00000440292.2",
"protein_id": "ENSP00000414792.2",
"transcript_support_level": 3,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3854,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3527C>A",
"hgvs_p": "p.Thr1176Lys",
"transcript": "NM_001318913.2",
"protein_id": "NP_001305842.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3527,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3791,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3848C>A",
"hgvs_p": "p.Thr1283Lys",
"transcript": "XM_005265170.5",
"protein_id": "XP_005265227.2",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3848,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4112,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3728C>A",
"hgvs_p": "p.Thr1243Lys",
"transcript": "XM_011533739.3",
"protein_id": "XP_011532041.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1361,
"cds_start": 3728,
"cds_end": null,
"cds_length": 4086,
"cdna_start": 3992,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3725C>A",
"hgvs_p": "p.Thr1242Lys",
"transcript": "XM_047448162.1",
"protein_id": "XP_047304118.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3725,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3989,
"cdna_end": null,
"cdna_length": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3701C>A",
"hgvs_p": "p.Thr1234Lys",
"transcript": "XM_011533740.3",
"protein_id": "XP_011532042.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3701,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3965,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3641C>A",
"hgvs_p": "p.Thr1214Lys",
"transcript": "XM_011533741.3",
"protein_id": "XP_011532043.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3641,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3905,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3530C>A",
"hgvs_p": "p.Thr1177Lys",
"transcript": "XM_011533744.3",
"protein_id": "XP_011532046.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3530,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 3794,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3494C>A",
"hgvs_p": "p.Thr1165Lys",
"transcript": "XM_047448167.1",
"protein_id": "XP_047304123.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3758,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3491C>A",
"hgvs_p": "p.Thr1164Lys",
"transcript": "XM_047448168.1",
"protein_id": "XP_047304124.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3491,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3383C>A",
"hgvs_p": "p.Thr1128Lys",
"transcript": "XM_047448173.1",
"protein_id": "XP_047304129.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3383,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3647,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3380C>A",
"hgvs_p": "p.Thr1127Lys",
"transcript": "XM_047448174.1",
"protein_id": "XP_047304130.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1245,
"cds_start": 3380,
"cds_end": null,
"cds_length": 3738,
"cdna_start": 3644,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3200C>A",
"hgvs_p": "p.Thr1067Lys",
"transcript": "XM_047448176.1",
"protein_id": "XP_047304132.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1185,
"cds_start": 3200,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 3464,
"cdna_end": null,
"cdna_length": 4127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.*667C>A",
"hgvs_p": null,
"transcript": "ENST00000411578.6",
"protein_id": "ENSP00000407926.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.*1639C>A",
"hgvs_p": null,
"transcript": "ENST00000714251.1",
"protein_id": "ENSP00000519532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.*538C>A",
"hgvs_p": null,
"transcript": "ENST00000714252.1",
"protein_id": "ENSP00000519533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.4045C>A",
"hgvs_p": null,
"transcript": "NR_134919.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.4112C>A",
"hgvs_p": null,
"transcript": "XR_001740155.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.*667C>A",
"hgvs_p": null,
"transcript": "ENST00000411578.6",
"protein_id": "ENSP00000407926.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.*1639C>A",
"hgvs_p": null,
"transcript": "ENST00000714251.1",
"protein_id": "ENSP00000519532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.*538C>A",
"hgvs_p": null,
"transcript": "ENST00000714252.1",
"protein_id": "ENSP00000519533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3813+459C>A",
"hgvs_p": null,
"transcript": "XM_011533742.3",
"protein_id": "XP_011532044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1324,
"cds_start": -4,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3810+459C>A",
"hgvs_p": null,
"transcript": "XM_047448164.1",
"protein_id": "XP_047304120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1323,
"cds_start": -4,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3647+1171C>A",
"hgvs_p": null,
"transcript": "XM_011533743.3",
"protein_id": "XP_011532045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1300,
"cds_start": -4,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3644+1171C>A",
"hgvs_p": null,
"transcript": "XM_047448165.1",
"protein_id": "XP_047304121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": -4,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3690+459C>A",
"hgvs_p": null,
"transcript": "XM_047448166.1",
"protein_id": "XP_047304122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1283,
"cds_start": -4,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3666+459C>A",
"hgvs_p": null,
"transcript": "XM_047448169.1",
"protein_id": "XP_047304125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1275,
"cds_start": -4,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3663+459C>A",
"hgvs_p": null,
"transcript": "XM_047448170.1",
"protein_id": "XP_047304126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1274,
"cds_start": -4,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3603+459C>A",
"hgvs_p": null,
"transcript": "XM_047448171.1",
"protein_id": "XP_047304127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1254,
"cds_start": -4,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3500+1171C>A",
"hgvs_p": null,
"transcript": "XM_047448172.1",
"protein_id": "XP_047304128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3495+459C>A",
"hgvs_p": null,
"transcript": "XM_047448175.1",
"protein_id": "XP_047304131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1218,
"cds_start": -4,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3348+459C>A",
"hgvs_p": null,
"transcript": "XM_047448177.1",
"protein_id": "XP_047304133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1169,
"cds_start": -4,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"dbsnp": "rs369707898",
"frequency_reference_population": 0.00010294152,
"hom_count_reference_population": 0,
"allele_count_reference_population": 166,
"gnomad_exomes_af": 0.000102712,
"gnomad_genomes_af": 0.000105143,
"gnomad_exomes_ac": 150,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8805668354034424,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.822,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9346,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.993,
"phylop100way_prediction": "Pathogenic",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002447.4",
"gene_symbol": "MST1R",
"hgnc_id": 7381,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3845C>A",
"hgvs_p": "p.Thr1282Lys"
}
],
"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
}