← 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: 17-50167695-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50167695&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50167695,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000023.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "NM_000023.4",
"protein_id": "NP_000014.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 387,
"cds_start": 271,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1429,
"mane_select": "ENST00000262018.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000023.4"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000262018.8",
"protein_id": "ENSP00000262018.3",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 387,
"cds_start": 271,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1429,
"mane_select": "NM_000023.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262018.8"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000344627.10",
"protein_id": "ENSP00000345522.6",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 263,
"cds_start": 271,
"cds_end": null,
"cds_length": 792,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344627.10"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.361G>T",
"hgvs_p": "p.Gly121Cys",
"transcript": "ENST00000952408.1",
"protein_id": "ENSP00000622467.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 417,
"cds_start": 361,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952408.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000895793.1",
"protein_id": "ENSP00000565852.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 400,
"cds_start": 271,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895793.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000952409.1",
"protein_id": "ENSP00000622468.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 395,
"cds_start": 271,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952409.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000895791.1",
"protein_id": "ENSP00000565850.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 387,
"cds_start": 271,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895791.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000895792.1",
"protein_id": "ENSP00000565851.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 387,
"cds_start": 271,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895792.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000895798.1",
"protein_id": "ENSP00000565857.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 387,
"cds_start": 271,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895798.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000952411.1",
"protein_id": "ENSP00000622470.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 387,
"cds_start": 271,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952411.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000952404.1",
"protein_id": "ENSP00000622463.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 364,
"cds_start": 271,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952404.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000895794.1",
"protein_id": "ENSP00000565853.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 359,
"cds_start": 271,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895794.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000895796.1",
"protein_id": "ENSP00000565855.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 356,
"cds_start": 271,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895796.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.151G>T",
"hgvs_p": "p.Gly51Cys",
"transcript": "ENST00000682109.1",
"protein_id": "ENSP00000508041.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 347,
"cds_start": 151,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682109.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "ENST00000504073.2",
"protein_id": "ENSP00000422030.2",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 337,
"cds_start": 271,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 1229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504073.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.151G>T",
"hgvs_p": "p.Gly51Cys",
"transcript": "ENST00000952405.1",
"protein_id": "ENSP00000622464.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 319,
"cds_start": 151,
"cds_end": null,
"cds_length": 960,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952405.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.271G>T",
"hgvs_p": "p.Gly91Cys",
"transcript": "NM_001135697.3",
"protein_id": "NP_001129169.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 263,
"cds_start": 271,
"cds_end": null,
"cds_length": 792,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135697.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.151G>T",
"hgvs_p": "p.Gly51Cys",
"transcript": "ENST00000895795.1",
"protein_id": "ENSP00000565854.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 223,
"cds_start": 151,
"cds_end": null,
"cds_length": 672,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895795.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.97-252G>T",
"hgvs_p": null,
"transcript": "ENST00000952406.1",
"protein_id": "ENSP00000622465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": null,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.157+208G>T",
"hgvs_p": null,
"transcript": "ENST00000895797.1",
"protein_id": "ENSP00000565856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.153+212G>T",
"hgvs_p": null,
"transcript": "ENST00000952407.1",
"protein_id": "ENSP00000622466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.97-252G>T",
"hgvs_p": null,
"transcript": "ENST00000952403.1",
"protein_id": "ENSP00000622462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952403.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "c.157+208G>T",
"hgvs_p": null,
"transcript": "ENST00000952410.1",
"protein_id": "ENSP00000622469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 801,
"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": 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.271G>T",
"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": 733,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.271G>T",
"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": 1090,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.271G>T",
"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": 1331,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.307G>T",
"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": 1220,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.157+208G>T",
"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": 1349,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.38-252G>T",
"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": 672,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.104-252G>T",
"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": 734,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.*18+208G>T",
"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": 542,
"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.544-9072C>A",
"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": 835,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000751801.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"hgvs_c": "n.-20G>T",
"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": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000683226.1"
}
],
"gene_symbol": "SGCA",
"gene_hgnc_id": 10805,
"dbsnp": "rs890921874",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9920016527175903,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.97,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9365,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.557,
"phylop100way_prediction": "Pathogenic",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_000023.4",
"gene_symbol": "SGCA",
"hgnc_id": 10805,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Gly91Cys"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000751801.1",
"gene_symbol": "ENSG00000253730",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.544-9072C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2D",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2D",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}