← 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: 3-15455899-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15455899&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15455899,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005677.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "ENST00000603808.5",
"protein_id": "ENSP00000474271.1",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 456,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603808.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "NM_005677.4",
"protein_id": "NP_005668.2",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 455,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": "ENST00000383788.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005677.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "ENST00000383788.10",
"protein_id": "ENSP00000373298.3",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 455,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": "NM_005677.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383788.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293553",
"gene_hgnc_id": null,
"hgvs_c": "n.42C>G",
"hgvs_p": null,
"transcript": "ENST00000629729.3",
"protein_id": "ENSP00000518887.1",
"transcript_support_level": 5,
"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": 809,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000629729.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000874202.1",
"protein_id": "ENSP00000544261.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 460,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874202.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly",
"transcript": "ENST00000959102.1",
"protein_id": "ENSP00000629161.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 455,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959102.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Arg392Gly",
"transcript": "ENST00000959107.1",
"protein_id": "ENSP00000629166.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 448,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959107.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1168C>G",
"hgvs_p": "p.Arg390Gly",
"transcript": "ENST00000874203.1",
"protein_id": "ENSP00000544262.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 446,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874203.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1165C>G",
"hgvs_p": "p.Arg389Gly",
"transcript": "NM_080538.2",
"protein_id": "NP_536799.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 445,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080538.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1165C>G",
"hgvs_p": "p.Arg389Gly",
"transcript": "ENST00000383781.8",
"protein_id": "ENSP00000373291.3",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 445,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383781.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1147C>G",
"hgvs_p": "p.Arg383Gly",
"transcript": "ENST00000874205.1",
"protein_id": "ENSP00000544264.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 439,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874205.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1096C>G",
"hgvs_p": "p.Arg366Gly",
"transcript": "ENST00000874204.1",
"protein_id": "ENSP00000544263.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 422,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874204.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1093C>G",
"hgvs_p": "p.Arg365Gly",
"transcript": "NM_080539.4",
"protein_id": "NP_536800.2",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 421,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080539.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1093C>G",
"hgvs_p": "p.Arg365Gly",
"transcript": "ENST00000383786.9",
"protein_id": "ENSP00000373296.3",
"transcript_support_level": 5,
"aa_start": 365,
"aa_end": null,
"aa_length": 421,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383786.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.1033C>G",
"hgvs_p": "p.Arg345Gly",
"transcript": "ENST00000959106.1",
"protein_id": "ENSP00000629165.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 401,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959106.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.994C>G",
"hgvs_p": "p.Arg332Gly",
"transcript": "ENST00000959105.1",
"protein_id": "ENSP00000629164.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 388,
"cds_start": 994,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959105.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.964+30C>G",
"hgvs_p": null,
"transcript": "ENST00000959103.1",
"protein_id": "ENSP00000629162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": null,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959103.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "c.815-1968C>G",
"hgvs_p": null,
"transcript": "ENST00000959104.1",
"protein_id": "ENSP00000629163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "n.1051C>G",
"hgvs_p": null,
"transcript": "ENST00000604401.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000604401.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "n.*957C>G",
"hgvs_p": null,
"transcript": "ENST00000679838.1",
"protein_id": "ENSP00000505708.1",
"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": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "n.1107C>G",
"hgvs_p": null,
"transcript": "ENST00000680240.1",
"protein_id": null,
"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": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680240.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "n.961C>G",
"hgvs_p": null,
"transcript": "ENST00000680545.1",
"protein_id": null,
"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": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "n.*209C>G",
"hgvs_p": null,
"transcript": "ENST00000681097.1",
"protein_id": "ENSP00000505397.1",
"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": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681097.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "n.4686C>G",
"hgvs_p": null,
"transcript": "ENST00000681222.1",
"protein_id": null,
"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": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "n.*957C>G",
"hgvs_p": null,
"transcript": "ENST00000679838.1",
"protein_id": "ENSP00000505708.1",
"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": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"hgvs_c": "n.*209C>G",
"hgvs_p": null,
"transcript": "ENST00000681097.1",
"protein_id": "ENSP00000505397.1",
"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": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681097.1"
}
],
"gene_symbol": "COLQ",
"gene_hgnc_id": 2226,
"dbsnp": "rs779594053",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13389703631401062,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14399999380111694,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.313,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0692,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.137,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000320413065286254,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PM5,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 2,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005677.4",
"gene_symbol": "COLQ",
"hgnc_id": 2226,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Arg399Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000629729.3",
"gene_symbol": "ENSG00000293553",
"hgnc_id": null,
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.42C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital myasthenic syndrome 5",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Congenital myasthenic syndrome 5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}