← 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: 7-51025175-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=51025175&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 51025175,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001410881.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3702C>A",
"hgvs_p": "p.Thr1234Thr",
"transcript": "NM_015198.5",
"protein_id": "NP_056013.2",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3702,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265136.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015198.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3702C>A",
"hgvs_p": "p.Thr1234Thr",
"transcript": "ENST00000265136.12",
"protein_id": "ENSP00000265136.7",
"transcript_support_level": 1,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3702,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015198.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265136.12"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3948C>A",
"hgvs_p": "p.Thr1316Thr",
"transcript": "ENST00000431948.6",
"protein_id": "ENSP00000413498.2",
"transcript_support_level": 1,
"aa_start": 1316,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3948,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431948.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3732C>A",
"hgvs_p": "p.Thr1244Thr",
"transcript": "ENST00000395542.6",
"protein_id": "ENSP00000378912.3",
"transcript_support_level": 1,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3732,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395542.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3237C>A",
"hgvs_p": "p.Thr1079Thr",
"transcript": "ENST00000445054.5",
"protein_id": "ENSP00000401204.1",
"transcript_support_level": 1,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445054.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "n.7342C>A",
"hgvs_p": null,
"transcript": "ENST00000462395.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000462395.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3948C>A",
"hgvs_p": "p.Thr1316Thr",
"transcript": "NM_001410881.1",
"protein_id": "NP_001397810.1",
"transcript_support_level": null,
"aa_start": 1316,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3948,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410881.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3930C>A",
"hgvs_p": "p.Thr1310Thr",
"transcript": "ENST00000902604.1",
"protein_id": "ENSP00000572663.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3930,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902604.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3855C>A",
"hgvs_p": "p.Thr1285Thr",
"transcript": "ENST00000902602.1",
"protein_id": "ENSP00000572661.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1312,
"cds_start": 3855,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902602.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3807C>A",
"hgvs_p": "p.Thr1269Thr",
"transcript": "ENST00000902598.1",
"protein_id": "ENSP00000572657.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3807,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902598.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3789C>A",
"hgvs_p": "p.Thr1263Thr",
"transcript": "ENST00000902599.1",
"protein_id": "ENSP00000572658.1",
"transcript_support_level": null,
"aa_start": 1263,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3789,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902599.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3777C>A",
"hgvs_p": "p.Thr1259Thr",
"transcript": "ENST00000902601.1",
"protein_id": "ENSP00000572660.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3777,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902601.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3747C>A",
"hgvs_p": "p.Thr1249Thr",
"transcript": "ENST00000961292.1",
"protein_id": "ENSP00000631351.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1276,
"cds_start": 3747,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961292.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3732C>A",
"hgvs_p": "p.Thr1244Thr",
"transcript": "NM_001287436.3",
"protein_id": "NP_001274365.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3732,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287436.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3714C>A",
"hgvs_p": "p.Thr1238Thr",
"transcript": "ENST00000902597.1",
"protein_id": "ENSP00000572656.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3714,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902597.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3606C>A",
"hgvs_p": "p.Thr1202Thr",
"transcript": "ENST00000961289.1",
"protein_id": "ENSP00000631348.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3606,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961289.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3561C>A",
"hgvs_p": "p.Thr1187Thr",
"transcript": "NM_001346442.2",
"protein_id": "NP_001333371.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3561,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346442.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3561C>A",
"hgvs_p": "p.Thr1187Thr",
"transcript": "ENST00000902594.1",
"protein_id": "ENSP00000572653.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3561,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902594.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3528C>A",
"hgvs_p": "p.Thr1176Thr",
"transcript": "ENST00000902596.1",
"protein_id": "ENSP00000572655.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3528,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902596.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3387C>A",
"hgvs_p": "p.Thr1129Thr",
"transcript": "ENST00000902603.1",
"protein_id": "ENSP00000572662.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3387,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902603.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3993C>A",
"hgvs_p": "p.Thr1331Thr",
"transcript": "XM_011515234.1",
"protein_id": "XP_011513536.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3993,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515234.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3918C>A",
"hgvs_p": "p.Thr1306Thr",
"transcript": "XM_005271750.1",
"protein_id": "XP_005271807.1",
"transcript_support_level": null,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3918,
"cds_end": null,
"cds_length": 4002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271750.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3873C>A",
"hgvs_p": "p.Thr1291Thr",
"transcript": "XM_005271751.1",
"protein_id": "XP_005271808.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3873,
"cds_end": null,
"cds_length": 3957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271751.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3852C>A",
"hgvs_p": "p.Thr1284Thr",
"transcript": "XM_011515236.1",
"protein_id": "XP_011513538.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1311,
"cds_start": 3852,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515236.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3822C>A",
"hgvs_p": "p.Thr1274Thr",
"transcript": "XM_011515237.1",
"protein_id": "XP_011513539.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3822,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515237.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3807C>A",
"hgvs_p": "p.Thr1269Thr",
"transcript": "XM_047420076.1",
"protein_id": "XP_047276032.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3807,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420076.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3777C>A",
"hgvs_p": "p.Thr1259Thr",
"transcript": "XM_047420077.1",
"protein_id": "XP_047276033.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3777,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420077.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3777C>A",
"hgvs_p": "p.Thr1259Thr",
"transcript": "XM_047420078.1",
"protein_id": "XP_047276034.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3777,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420078.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3747C>A",
"hgvs_p": "p.Thr1249Thr",
"transcript": "XM_017011898.1",
"protein_id": "XP_016867387.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1276,
"cds_start": 3747,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011898.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3681C>A",
"hgvs_p": "p.Thr1227Thr",
"transcript": "XM_011515239.1",
"protein_id": "XP_011513541.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3681,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515239.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3636C>A",
"hgvs_p": "p.Thr1212Thr",
"transcript": "XM_011515240.1",
"protein_id": "XP_011513542.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3636,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515240.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3060C>A",
"hgvs_p": "p.Thr1020Thr",
"transcript": "XM_011515241.1",
"protein_id": "XP_011513543.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3060,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515241.1"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3750+1371C>A",
"hgvs_p": null,
"transcript": "ENST00000902600.1",
"protein_id": "ENSP00000572659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1255,
"cds_start": null,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902600.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3675+1371C>A",
"hgvs_p": null,
"transcript": "NM_001346441.2",
"protein_id": "NP_001333370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1230,
"cds_start": null,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346441.2"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3549+1371C>A",
"hgvs_p": null,
"transcript": "ENST00000961290.1",
"protein_id": "ENSP00000631349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": null,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961290.1"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3504+1371C>A",
"hgvs_p": null,
"transcript": "NM_001346443.2",
"protein_id": "NP_001333372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": null,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346443.2"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3504+1371C>A",
"hgvs_p": null,
"transcript": "ENST00000902595.1",
"protein_id": "ENSP00000572654.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1173,
"cds_start": null,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902595.1"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3429+2537C>A",
"hgvs_p": null,
"transcript": "ENST00000961291.1",
"protein_id": "ENSP00000631350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": null,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961291.1"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3795+1371C>A",
"hgvs_p": null,
"transcript": "XM_011515238.1",
"protein_id": "XP_011513540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1270,
"cds_start": null,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515238.1"
},
{
"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": 13,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3750+1371C>A",
"hgvs_p": null,
"transcript": "XM_047420079.1",
"protein_id": "XP_047276035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1255,
"cds_start": null,
"cds_end": null,
"cds_length": 3768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420079.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.3579+1371C>A",
"hgvs_p": null,
"transcript": "XM_047420080.1",
"protein_id": "XP_047276036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1198,
"cds_start": null,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420080.1"
}
],
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"dbsnp": "rs76685455",
"frequency_reference_population": 6.850704e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8507e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.756,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001410881.1",
"gene_symbol": "COBL",
"hgnc_id": 22199,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3948C>A",
"hgvs_p": "p.Thr1316Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}