← 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: 16-30987877-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30987877&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30987877,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_025193.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "NM_025193.4",
"protein_id": "NP_079469.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297679.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025193.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "ENST00000297679.10",
"protein_id": "ENSP00000297679.5",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025193.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297679.10"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Tyr309Tyr",
"transcript": "ENST00000867909.1",
"protein_id": "ENSP00000537968.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 410,
"cds_start": 927,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867909.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Tyr309Tyr",
"transcript": "ENST00000867910.1",
"protein_id": "ENSP00000537969.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 410,
"cds_start": 927,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867910.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Tyr309Tyr",
"transcript": "ENST00000930187.1",
"protein_id": "ENSP00000600246.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 410,
"cds_start": 927,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930187.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Tyr309Tyr",
"transcript": "ENST00000949919.1",
"protein_id": "ENSP00000619978.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 410,
"cds_start": 927,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949919.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "ENST00000867900.1",
"protein_id": "ENSP00000537959.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867900.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "ENST00000867901.1",
"protein_id": "ENSP00000537960.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867901.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "ENST00000867903.1",
"protein_id": "ENSP00000537962.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867903.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "ENST00000867905.1",
"protein_id": "ENSP00000537964.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867905.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "ENST00000867906.1",
"protein_id": "ENSP00000537965.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867906.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "ENST00000867908.1",
"protein_id": "ENSP00000537967.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867908.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "ENST00000949918.1",
"protein_id": "ENSP00000619977.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949918.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "ENST00000949921.1",
"protein_id": "ENSP00000619980.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949921.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.711C>T",
"hgvs_p": "p.Tyr237Tyr",
"transcript": "ENST00000867907.1",
"protein_id": "ENSP00000537966.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 338,
"cds_start": 711,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867907.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.711C>T",
"hgvs_p": "p.Tyr237Tyr",
"transcript": "ENST00000867912.1",
"protein_id": "ENSP00000537971.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 338,
"cds_start": 711,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867912.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.711C>T",
"hgvs_p": "p.Tyr237Tyr",
"transcript": "ENST00000949920.1",
"protein_id": "ENSP00000619979.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 338,
"cds_start": 711,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949920.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.648C>T",
"hgvs_p": "p.Tyr216Tyr",
"transcript": "ENST00000867902.1",
"protein_id": "ENSP00000537961.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 317,
"cds_start": 648,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867902.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.648C>T",
"hgvs_p": "p.Tyr216Tyr",
"transcript": "ENST00000867904.1",
"protein_id": "ENSP00000537963.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 317,
"cds_start": 648,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867904.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.648C>T",
"hgvs_p": "p.Tyr216Tyr",
"transcript": "ENST00000867911.1",
"protein_id": "ENSP00000537970.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 317,
"cds_start": 648,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867911.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.648C>T",
"hgvs_p": "p.Tyr216Tyr",
"transcript": "ENST00000867913.1",
"protein_id": "ENSP00000537972.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 317,
"cds_start": 648,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867913.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.648C>T",
"hgvs_p": "p.Tyr216Tyr",
"transcript": "ENST00000867914.1",
"protein_id": "ENSP00000537973.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 317,
"cds_start": 648,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867914.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.648C>T",
"hgvs_p": "p.Tyr216Tyr",
"transcript": "ENST00000867915.1",
"protein_id": "ENSP00000537974.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 317,
"cds_start": 648,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867915.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "XM_005255601.4",
"protein_id": "XP_005255658.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255601.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "XM_011545960.3",
"protein_id": "XP_011544262.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545960.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "XM_011545961.2",
"protein_id": "XP_011544263.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545961.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr",
"transcript": "XM_047434716.1",
"protein_id": "XP_047290672.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 804,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434716.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.*50C>T",
"hgvs_p": null,
"transcript": "NM_001142777.2",
"protein_id": "NP_001136249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142777.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.*50C>T",
"hgvs_p": null,
"transcript": "NM_001142778.2",
"protein_id": "NP_001136250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142778.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.*50C>T",
"hgvs_p": null,
"transcript": "ENST00000262520.10",
"protein_id": "ENSP00000262520.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262520.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.*50C>T",
"hgvs_p": null,
"transcript": "XM_011545962.3",
"protein_id": "XP_011544264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545962.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.*50C>T",
"hgvs_p": null,
"transcript": "XM_017023732.2",
"protein_id": "XP_016879221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023732.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000279196",
"gene_hgnc_id": null,
"hgvs_c": "n.394G>A",
"hgvs_p": null,
"transcript": "ENST00000624286.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "TEC",
"feature": "ENST00000624286.1"
}
],
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"dbsnp": "rs17849880",
"frequency_reference_population": 0.09396908,
"hom_count_reference_population": 8129,
"allele_count_reference_population": 151652,
"gnomad_exomes_af": 0.0966586,
"gnomad_genomes_af": 0.0681639,
"gnomad_exomes_ac": 141269,
"gnomad_genomes_ac": 10383,
"gnomad_exomes_homalt": 7649,
"gnomad_genomes_homalt": 480,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.024,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_025193.4",
"gene_symbol": "HSD3B7",
"hgnc_id": 18324,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Tyr268Tyr"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000624286.1",
"gene_symbol": "ENSG00000279196",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.394G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}