← 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: 8-70131931-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=70131931&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 70131931,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006540.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "NM_006540.4",
"protein_id": "NP_006531.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000452400.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006540.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "ENST00000452400.7",
"protein_id": "ENSP00000399968.2",
"transcript_support_level": 1,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006540.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452400.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "NM_001321703.2",
"protein_id": "NP_001308632.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321703.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "NM_001321707.2",
"protein_id": "NP_001308636.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321707.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "ENST00000892895.1",
"protein_id": "ENSP00000562954.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892895.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "ENST00000892896.1",
"protein_id": "ENSP00000562955.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892896.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "ENST00000892898.1",
"protein_id": "ENSP00000562957.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892898.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "ENST00000892899.1",
"protein_id": "ENSP00000562958.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892899.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "ENST00000911542.1",
"protein_id": "ENSP00000581601.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911542.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "ENST00000892897.1",
"protein_id": "ENSP00000562956.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1439,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892897.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "NM_001321711.2",
"protein_id": "NP_001308640.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321711.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "NM_001321712.2",
"protein_id": "NP_001308641.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321712.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.2768G>C",
"hgvs_p": "p.Gly923Ala",
"transcript": "NM_001321713.2",
"protein_id": "NP_001308642.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1310,
"cds_start": 2768,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321713.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.605G>C",
"hgvs_p": "p.Gly202Ala",
"transcript": "ENST00000518363.2",
"protein_id": "ENSP00000429132.2",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 589,
"cds_start": 605,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518363.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_017012961.3",
"protein_id": "XP_016868450.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012961.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_017012962.3",
"protein_id": "XP_016868451.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012962.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_017012963.3",
"protein_id": "XP_016868452.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012963.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_017012964.3",
"protein_id": "XP_016868453.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012964.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_017012966.3",
"protein_id": "XP_016868455.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012966.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_017012968.3",
"protein_id": "XP_016868457.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012968.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_017012969.3",
"protein_id": "XP_016868458.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012969.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_017012970.3",
"protein_id": "XP_016868459.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012970.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_017012971.3",
"protein_id": "XP_016868460.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012971.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421230.1",
"protein_id": "XP_047277186.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421230.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421232.1",
"protein_id": "XP_047277188.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421232.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421233.1",
"protein_id": "XP_047277189.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421233.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421234.1",
"protein_id": "XP_047277190.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421234.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421235.1",
"protein_id": "XP_047277191.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421235.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421236.1",
"protein_id": "XP_047277192.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421236.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421237.1",
"protein_id": "XP_047277193.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421237.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421239.1",
"protein_id": "XP_047277195.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421239.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421240.1",
"protein_id": "XP_047277196.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421240.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421241.1",
"protein_id": "XP_047277197.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421241.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421242.1",
"protein_id": "XP_047277198.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421242.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421243.1",
"protein_id": "XP_047277199.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421243.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421244.1",
"protein_id": "XP_047277200.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421244.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421245.1",
"protein_id": "XP_047277201.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421245.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421246.1",
"protein_id": "XP_047277202.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421246.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421247.1",
"protein_id": "XP_047277203.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421247.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421248.1",
"protein_id": "XP_047277204.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421248.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421249.1",
"protein_id": "XP_047277205.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421249.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421250.1",
"protein_id": "XP_047277206.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421250.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421251.1",
"protein_id": "XP_047277207.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421251.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421252.1",
"protein_id": "XP_047277208.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421252.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala",
"transcript": "XM_047421253.1",
"protein_id": "XP_047277209.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421253.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421254.1",
"protein_id": "XP_047277210.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421254.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421255.1",
"protein_id": "XP_047277211.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421255.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421256.1",
"protein_id": "XP_047277212.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421256.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421257.1",
"protein_id": "XP_047277213.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421257.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421258.1",
"protein_id": "XP_047277214.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421258.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421259.1",
"protein_id": "XP_047277215.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421259.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421260.1",
"protein_id": "XP_047277216.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421260.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421261.1",
"protein_id": "XP_047277217.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421261.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421262.1",
"protein_id": "XP_047277218.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421262.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421263.1",
"protein_id": "XP_047277219.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421263.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.3023G>C",
"hgvs_p": "p.Gly1008Ala",
"transcript": "XM_047421264.1",
"protein_id": "XP_047277220.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421264.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "c.2768G>C",
"hgvs_p": "p.Gly923Ala",
"transcript": "XM_017012972.3",
"protein_id": "XP_016868461.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1379,
"cds_start": 2768,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012972.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "n.*187G>C",
"hgvs_p": null,
"transcript": "ENST00000518287.6",
"protein_id": "ENSP00000430148.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518287.6"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"hgvs_c": "n.*187G>C",
"hgvs_p": null,
"transcript": "ENST00000518287.6",
"protein_id": "ENSP00000430148.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518287.6"
}
],
"gene_symbol": "NCOA2",
"gene_hgnc_id": 7669,
"dbsnp": "rs1184626487",
"frequency_reference_population": 6.856999e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.857e-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": 0.74037766456604,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.282,
"revel_prediction": "Benign",
"alphamissense_score": 0.159,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.537,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006540.4",
"gene_symbol": "NCOA2",
"hgnc_id": 7669,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3230G>C",
"hgvs_p": "p.Gly1077Ala"
}
],
"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
}