← 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: 2-127639398-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127639398&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127639398,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001161403.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Pro303Pro",
"transcript": "NM_001161403.3",
"protein_id": "NP_001154875.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 341,
"cds_start": 909,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": "ENST00000355119.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Pro303Pro",
"transcript": "ENST00000355119.9",
"protein_id": "ENSP00000347240.4",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 341,
"cds_start": 909,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": "NM_001161403.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.981C>T",
"hgvs_p": "p.Pro327Pro",
"transcript": "ENST00000324938.9",
"protein_id": "ENSP00000326888.5",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 365,
"cds_start": 981,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Pro298Pro",
"transcript": "ENST00000409455.5",
"protein_id": "ENSP00000386383.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 336,
"cds_start": 894,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Pro298Pro",
"transcript": "ENST00000410011.5",
"protein_id": "ENSP00000387002.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 336,
"cds_start": 894,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Pro151Pro",
"transcript": "ENST00000409754.5",
"protein_id": "ENSP00000386345.1",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 189,
"cds_start": 453,
"cds_end": null,
"cds_length": 570,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.981C>T",
"hgvs_p": "p.Pro327Pro",
"transcript": "NM_017980.5",
"protein_id": "NP_060450.2",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 365,
"cds_start": 981,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.975C>T",
"hgvs_p": "p.Pro325Pro",
"transcript": "NM_001136037.4",
"protein_id": "NP_001129509.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 363,
"cds_start": 975,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.975C>T",
"hgvs_p": "p.Pro325Pro",
"transcript": "ENST00000545738.6",
"protein_id": "ENSP00000443794.2",
"transcript_support_level": 5,
"aa_start": 325,
"aa_end": null,
"aa_length": 363,
"cds_start": 975,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Pro298Pro",
"transcript": "NM_001161404.2",
"protein_id": "NP_001154876.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 336,
"cds_start": 894,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Pro298Pro",
"transcript": "ENST00000409808.6",
"protein_id": "ENSP00000386637.2",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 336,
"cds_start": 894,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Pro151Pro",
"transcript": "NM_001256542.2",
"protein_id": "NP_001243471.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 189,
"cds_start": 453,
"cds_end": null,
"cds_length": 570,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Pro151Pro",
"transcript": "ENST00000409254.1",
"protein_id": "ENSP00000386907.1",
"transcript_support_level": 3,
"aa_start": 151,
"aa_end": null,
"aa_length": 189,
"cds_start": 453,
"cds_end": null,
"cds_length": 570,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Pro151Pro",
"transcript": "ENST00000409286.5",
"protein_id": "ENSP00000386252.1",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 189,
"cds_start": 453,
"cds_end": null,
"cds_length": 570,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Pro151Pro",
"transcript": "ENST00000410038.5",
"protein_id": "ENSP00000386570.1",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 189,
"cds_start": 453,
"cds_end": null,
"cds_length": 570,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Pro130Pro",
"transcript": "ENST00000426981.5",
"protein_id": "ENSP00000397253.1",
"transcript_support_level": 3,
"aa_start": 130,
"aa_end": null,
"aa_length": 168,
"cds_start": 390,
"cds_end": null,
"cds_length": 507,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Pro322Pro",
"transcript": "XM_047444963.1",
"protein_id": "XP_047300919.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 360,
"cds_start": 966,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Pro298Pro",
"transcript": "XM_024452983.2",
"protein_id": "XP_024308751.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 336,
"cds_start": 894,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Pro286Pro",
"transcript": "XM_011511453.2",
"protein_id": "XP_011509755.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 324,
"cds_start": 858,
"cds_end": null,
"cds_length": 975,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.786C>T",
"hgvs_p": "p.Pro262Pro",
"transcript": "XM_047444970.1",
"protein_id": "XP_047300926.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 300,
"cds_start": 786,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.702C>T",
"hgvs_p": "p.Pro234Pro",
"transcript": "XM_005263710.3",
"protein_id": "XP_005263767.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 272,
"cds_start": 702,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.648C>T",
"hgvs_p": "p.Pro216Pro",
"transcript": "XM_047444972.1",
"protein_id": "XP_047300928.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 254,
"cds_start": 648,
"cds_end": null,
"cds_length": 765,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.600C>T",
"hgvs_p": "p.Pro200Pro",
"transcript": "XM_017004469.2",
"protein_id": "XP_016859958.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 238,
"cds_start": 600,
"cds_end": null,
"cds_length": 717,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.561C>T",
"hgvs_p": "p.Pro187Pro",
"transcript": "XM_006712627.5",
"protein_id": "XP_006712690.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 225,
"cds_start": 561,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Pro151Pro",
"transcript": "XM_024452985.2",
"protein_id": "XP_024308753.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 189,
"cds_start": 453,
"cds_end": null,
"cds_length": 570,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Pro151Pro",
"transcript": "XM_024452986.2",
"protein_id": "XP_024308754.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 189,
"cds_start": 453,
"cds_end": null,
"cds_length": 570,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Pro151Pro",
"transcript": "XM_047444975.1",
"protein_id": "XP_047300931.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 189,
"cds_start": 453,
"cds_end": null,
"cds_length": 570,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Pro151Pro",
"transcript": "XM_047444976.1",
"protein_id": "XP_047300932.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 189,
"cds_start": 453,
"cds_end": null,
"cds_length": 570,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 2751,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "n.*119C>T",
"hgvs_p": null,
"transcript": "ENST00000413578.5",
"protein_id": "ENSP00000388611.1",
"transcript_support_level": 3,
"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": 930,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "n.1622C>T",
"hgvs_p": null,
"transcript": "ENST00000466410.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2592,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "n.3834C>T",
"hgvs_p": null,
"transcript": "ENST00000469300.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 4807,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "n.1297C>T",
"hgvs_p": null,
"transcript": "ENST00000476932.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2269,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "n.1129C>T",
"hgvs_p": null,
"transcript": "ENST00000484252.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2099,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "n.165C>T",
"hgvs_p": null,
"transcript": "ENST00000494613.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1137,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"hgvs_c": "n.*119C>T",
"hgvs_p": null,
"transcript": "ENST00000413578.5",
"protein_id": "ENSP00000388611.1",
"transcript_support_level": 3,
"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": 930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LIMS2",
"gene_hgnc_id": 16084,
"dbsnp": "rs374378217",
"frequency_reference_population": 0.00014376915,
"hom_count_reference_population": 2,
"allele_count_reference_population": 232,
"gnomad_exomes_af": 0.00015052,
"gnomad_genomes_af": 0.0000788955,
"gnomad_exomes_ac": 220,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29899999499320984,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.299,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.329,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001161403.3",
"gene_symbol": "LIMS2",
"hgnc_id": 16084,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.909C>T",
"hgvs_p": "p.Pro303Pro"
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2W",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2W",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}