← 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: 17-50168390-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50168390&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50168390,
"ref": "C",
"alt": "G",
"effect": "stop_gained",
"transcript": "NM_000023.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "NM_000023.4",
"protein_id": "NP_000014.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 387,
"cds_start": 402,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262018.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000023.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000262018.8",
"protein_id": "ENSP00000262018.3",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 387,
"cds_start": 402,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000023.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262018.8"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000344627.10",
"protein_id": "ENSP00000345522.6",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 263,
"cds_start": 402,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344627.10"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.492C>G",
"hgvs_p": "p.Tyr164*",
"transcript": "ENST00000952408.1",
"protein_id": "ENSP00000622467.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 417,
"cds_start": 492,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952408.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000895793.1",
"protein_id": "ENSP00000565852.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 400,
"cds_start": 402,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895793.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000952409.1",
"protein_id": "ENSP00000622468.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 395,
"cds_start": 402,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952409.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000895791.1",
"protein_id": "ENSP00000565850.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 387,
"cds_start": 402,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895791.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000895792.1",
"protein_id": "ENSP00000565851.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 387,
"cds_start": 402,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895792.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000895798.1",
"protein_id": "ENSP00000565857.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 387,
"cds_start": 402,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895798.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000952411.1",
"protein_id": "ENSP00000622470.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 387,
"cds_start": 402,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952411.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000952404.1",
"protein_id": "ENSP00000622463.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 364,
"cds_start": 402,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952404.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000895794.1",
"protein_id": "ENSP00000565853.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 359,
"cds_start": 402,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895794.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000895796.1",
"protein_id": "ENSP00000565855.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 356,
"cds_start": 402,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895796.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.282C>G",
"hgvs_p": "p.Tyr94*",
"transcript": "ENST00000682109.1",
"protein_id": "ENSP00000508041.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 347,
"cds_start": 282,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682109.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "ENST00000504073.2",
"protein_id": "ENSP00000422030.2",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 337,
"cds_start": 402,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504073.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.282C>G",
"hgvs_p": "p.Tyr94*",
"transcript": "ENST00000952405.1",
"protein_id": "ENSP00000622464.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 319,
"cds_start": 282,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952405.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Tyr62*",
"transcript": "ENST00000952406.1",
"protein_id": "ENSP00000622465.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 315,
"cds_start": 186,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952406.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*",
"transcript": "NM_001135697.3",
"protein_id": "NP_001129169.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 263,
"cds_start": 402,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135697.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.282C>G",
"hgvs_p": "p.Tyr94*",
"transcript": "ENST00000895795.1",
"protein_id": "ENSP00000565854.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 223,
"cds_start": 282,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895795.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.267C>G",
"hgvs_p": "p.Tyr89*",
"transcript": "ENST00000895797.1",
"protein_id": "ENSP00000565856.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 218,
"cds_start": 267,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895797.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.243C>G",
"hgvs_p": "p.Tyr81*",
"transcript": "ENST00000952407.1",
"protein_id": "ENSP00000622466.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 210,
"cds_start": 243,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952407.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.186C>G",
"hgvs_p": "p.Tyr62*",
"transcript": "ENST00000952403.1",
"protein_id": "ENSP00000622462.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 191,
"cds_start": 186,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952403.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Tyr58*",
"transcript": "ENST00000952410.1",
"protein_id": "ENSP00000622469.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 187,
"cds_start": 174,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.*61C>G",
"hgvs_p": null,
"transcript": "ENST00000502555.5",
"protein_id": "ENSP00000422817.1",
"transcript_support_level": 2,
"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": "ENST00000502555.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.127C>G",
"hgvs_p": null,
"transcript": "ENST00000511303.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000511303.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.*61C>G",
"hgvs_p": null,
"transcript": "ENST00000512526.2",
"protein_id": "ENSP00000426606.2",
"transcript_support_level": 3,
"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": "ENST00000512526.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.402C>G",
"hgvs_p": null,
"transcript": "ENST00000513821.5",
"protein_id": "ENSP00000426571.1",
"transcript_support_level": 2,
"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": "ENST00000513821.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.193C>G",
"hgvs_p": null,
"transcript": "ENST00000513942.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000513942.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.*108C>G",
"hgvs_p": null,
"transcript": "ENST00000514934.1",
"protein_id": "ENSP00000423168.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000514934.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.112C>G",
"hgvs_p": null,
"transcript": "ENST00000683226.1",
"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": "retained_intron",
"feature": "ENST00000683226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.402C>G",
"hgvs_p": null,
"transcript": "ENST00000683294.1",
"protein_id": "ENSP00000508134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683294.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.438C>G",
"hgvs_p": null,
"transcript": "NR_135553.2",
"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_135553.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.*61C>G",
"hgvs_p": null,
"transcript": "ENST00000502555.5",
"protein_id": "ENSP00000422817.1",
"transcript_support_level": 2,
"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": "ENST00000502555.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.*61C>G",
"hgvs_p": null,
"transcript": "ENST00000512526.2",
"protein_id": "ENSP00000426606.2",
"transcript_support_level": 3,
"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": "ENST00000512526.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.*108C>G",
"hgvs_p": null,
"transcript": "ENST00000514934.1",
"protein_id": "ENSP00000423168.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000514934.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253730",
"gene_hgnc_id": null,
"hgvs_c": "n.544-9767G>C",
"hgvs_p": null,
"transcript": "ENST00000751801.1",
"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": "ENST00000751801.1"
}
],
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"dbsnp": "rs780264754",
"frequency_reference_population": 0.0000031597613,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000279671,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5199999809265137,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.017,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000023.4",
"gene_symbol": "SGCA",
"hgnc_id": 10805,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.402C>G",
"hgvs_p": "p.Tyr134*"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000751801.1",
"gene_symbol": "ENSG00000253730",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.544-9767G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2D,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"phenotype_combined": "not provided|Autosomal recessive limb-girdle muscular dystrophy type 2D",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}