← 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: 5-143282715-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=143282715&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 143282715,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001024094.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "NM_000176.3",
"protein_id": "NP_000167.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394464.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000176.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000394464.7",
"protein_id": "ENSP00000377977.2",
"transcript_support_level": 1,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000176.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394464.7"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "ENST00000231509.7",
"protein_id": "ENSP00000231509.3",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 778,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231509.7"
},
{
"aa_ref": "D",
"aa_alt": "D",
"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": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "ENST00000504572.5",
"protein_id": "ENSP00000422518.1",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 778,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504572.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000503201.1",
"protein_id": "ENSP00000427672.1",
"transcript_support_level": 1,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503201.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1956C>T",
"hgvs_p": "p.Asp652Asp",
"transcript": "ENST00000424646.6",
"protein_id": "ENSP00000405282.2",
"transcript_support_level": 1,
"aa_start": 652,
"aa_end": null,
"aa_length": 751,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424646.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000415690.6",
"protein_id": "ENSP00000387672.2",
"transcript_support_level": 1,
"aa_start": 678,
"aa_end": null,
"aa_length": 742,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415690.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "NM_001024094.2",
"protein_id": "NP_001019265.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 778,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024094.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"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": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "NM_001364183.2",
"protein_id": "NP_001351112.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 778,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364183.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "NM_001364184.2",
"protein_id": "NP_001351113.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 778,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364184.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "NM_001364185.1",
"protein_id": "NP_001351114.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 778,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364185.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "ENST00000394466.6",
"protein_id": "ENSP00000377979.2",
"transcript_support_level": 5,
"aa_start": 679,
"aa_end": null,
"aa_length": 778,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394466.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "ENST00000870492.1",
"protein_id": "ENSP00000540551.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 778,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870492.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "ENST00000870495.1",
"protein_id": "ENSP00000540554.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 778,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870495.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "NM_001018074.1",
"protein_id": "NP_001018084.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018074.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "NM_001018075.1",
"protein_id": "NP_001018085.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018075.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "NM_001018076.2",
"protein_id": "NP_001018086.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018076.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "NM_001018077.1",
"protein_id": "NP_001018087.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018077.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "NM_001364180.2",
"protein_id": "NP_001351109.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364180.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "NM_001364181.2",
"protein_id": "NP_001351110.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364181.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "NM_001364182.1",
"protein_id": "NP_001351111.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364182.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000343796.6",
"protein_id": "ENSP00000343205.2",
"transcript_support_level": 5,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343796.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000870493.1",
"protein_id": "ENSP00000540552.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870493.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000870494.1",
"protein_id": "ENSP00000540553.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870494.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000870496.1",
"protein_id": "ENSP00000540555.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870496.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"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": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000870497.1",
"protein_id": "ENSP00000540556.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870497.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000870499.1",
"protein_id": "ENSP00000540558.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870499.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000935689.1",
"protein_id": "ENSP00000605748.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935689.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"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": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000935690.1",
"protein_id": "ENSP00000605749.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935690.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "ENST00000971221.1",
"protein_id": "ENSP00000641280.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 777,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971221.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1956C>T",
"hgvs_p": "p.Asp652Asp",
"transcript": "NM_001204258.2",
"protein_id": "NP_001191187.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 751,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204258.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1941C>T",
"hgvs_p": "p.Asp647Asp",
"transcript": "ENST00000652686.1",
"protein_id": "ENSP00000498663.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 746,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652686.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asp678Asp",
"transcript": "NM_001020825.2",
"protein_id": "NP_001018661.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 742,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001020825.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1920C>T",
"hgvs_p": "p.Asp640Asp",
"transcript": "ENST00000971222.1",
"protein_id": "ENSP00000641281.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 739,
"cds_start": 1920,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971222.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1917C>T",
"hgvs_p": "p.Asp639Asp",
"transcript": "ENST00000870498.1",
"protein_id": "ENSP00000540557.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 738,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870498.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1917C>T",
"hgvs_p": "p.Asp639Asp",
"transcript": "ENST00000971223.1",
"protein_id": "ENSP00000641282.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 738,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971223.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Asp593Asp",
"transcript": "NM_001204259.2",
"protein_id": "NP_001191188.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 692,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204259.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1767C>T",
"hgvs_p": "p.Asp589Asp",
"transcript": "NM_001204260.2",
"protein_id": "NP_001191189.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 688,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204260.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1743C>T",
"hgvs_p": "p.Asp581Asp",
"transcript": "NM_001204261.2",
"protein_id": "NP_001191190.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 680,
"cds_start": 1743,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204261.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1089C>T",
"hgvs_p": "p.Asp363Asp",
"transcript": "NM_001204262.2",
"protein_id": "NP_001191191.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 462,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204262.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1044C>T",
"hgvs_p": "p.Asp348Asp",
"transcript": "NM_001204263.2",
"protein_id": "NP_001191192.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 447,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204263.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "c.1029C>T",
"hgvs_p": "p.Asp343Asp",
"transcript": "NM_001204264.2",
"protein_id": "NP_001191193.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 442,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204264.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"hgvs_c": "n.957C>T",
"hgvs_p": null,
"transcript": "NR_157096.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157096.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300303",
"gene_hgnc_id": null,
"hgvs_c": "n.118-1984G>A",
"hgvs_p": null,
"transcript": "ENST00000770709.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000770709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300303",
"gene_hgnc_id": null,
"hgvs_c": "n.118-1984G>A",
"hgvs_p": null,
"transcript": "ENST00000770710.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000770710.1"
}
],
"gene_symbol": "NR3C1",
"gene_hgnc_id": 7978,
"dbsnp": "rs258751",
"frequency_reference_population": 0.00944565,
"hom_count_reference_population": 591,
"allele_count_reference_population": 15234,
"gnomad_exomes_af": 0.00672205,
"gnomad_genomes_af": 0.0357454,
"gnomad_exomes_ac": 9824,
"gnomad_genomes_ac": 5410,
"gnomad_exomes_homalt": 319,
"gnomad_genomes_homalt": 272,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"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": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.083,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001024094.2",
"gene_symbol": "NR3C1",
"hgnc_id": 7978,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2037C>T",
"hgvs_p": "p.Asp679Asp"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000770709.1",
"gene_symbol": "ENSG00000300303",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.118-1984G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Glucocorticoid resistance,NR3C1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Glucocorticoid resistance|not provided|NR3C1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}