← 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: 11-66693257-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66693257&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66693257,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001411025.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "NM_006946.4",
"protein_id": "NP_008877.2",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533211.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006946.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000533211.6",
"protein_id": "ENSP00000432568.1",
"transcript_support_level": 5,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006946.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533211.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000309996.7",
"protein_id": "ENSP00000311489.2",
"transcript_support_level": 1,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309996.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4804C>T",
"hgvs_p": "p.Arg1602Cys",
"transcript": "NM_001411025.1",
"protein_id": "NP_001397954.1",
"transcript_support_level": null,
"aa_start": 1602,
"aa_end": null,
"aa_length": 2397,
"cds_start": 4804,
"cds_end": null,
"cds_length": 7194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411025.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4804C>T",
"hgvs_p": "p.Arg1602Cys",
"transcript": "ENST00000617502.5",
"protein_id": "ENSP00000482000.2",
"transcript_support_level": 5,
"aa_start": 1602,
"aa_end": null,
"aa_length": 2397,
"cds_start": 4804,
"cds_end": null,
"cds_length": 7194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617502.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "NM_001437541.1",
"protein_id": "NP_001424470.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437541.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000611817.5",
"protein_id": "ENSP00000480692.2",
"transcript_support_level": 2,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611817.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000713738.1",
"protein_id": "ENSP00000519042.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713738.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000888769.1",
"protein_id": "ENSP00000558828.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888769.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000930530.1",
"protein_id": "ENSP00000600589.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930530.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000930531.1",
"protein_id": "ENSP00000600590.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930531.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000961397.1",
"protein_id": "ENSP00000631456.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961397.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000529997.5",
"protein_id": "ENSP00000433593.1",
"transcript_support_level": 5,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2365,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529997.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000713741.1",
"protein_id": "ENSP00000519045.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2361,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713741.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "ENST00000713739.1",
"protein_id": "ENSP00000519043.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2265,
"cds_start": 4783,
"cds_end": null,
"cds_length": 6798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713739.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4336C>T",
"hgvs_p": "p.Arg1446Cys",
"transcript": "ENST00000713742.1",
"protein_id": "ENSP00000519046.1",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 2241,
"cds_start": 4336,
"cds_end": null,
"cds_length": 6726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713742.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.3157C>T",
"hgvs_p": "p.Arg1053Cys",
"transcript": "ENST00000713740.1",
"protein_id": "ENSP00000519044.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1848,
"cds_start": 3157,
"cds_end": null,
"cds_length": 5547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713740.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_006718671.5",
"protein_id": "XP_006718734.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718671.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_017018174.2",
"protein_id": "XP_016873663.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018174.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_017018175.3",
"protein_id": "XP_016873664.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018175.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_017018176.2",
"protein_id": "XP_016873665.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018176.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_017018177.3",
"protein_id": "XP_016873666.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018177.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_017018178.2",
"protein_id": "XP_016873667.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018178.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_047427488.1",
"protein_id": "XP_047283444.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427488.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_047427489.1",
"protein_id": "XP_047283445.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427489.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_047427490.1",
"protein_id": "XP_047283446.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427490.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_047427491.1",
"protein_id": "XP_047283447.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427491.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_047427492.1",
"protein_id": "XP_047283448.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427492.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_047427493.1",
"protein_id": "XP_047283449.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427493.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_047427494.1",
"protein_id": "XP_047283450.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427494.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4783C>T",
"hgvs_p": "p.Arg1595Cys",
"transcript": "XM_047427495.1",
"protein_id": "XP_047283451.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4783,
"cds_end": null,
"cds_length": 7173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427495.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4804C>T",
"hgvs_p": "p.Arg1602Cys",
"transcript": "XM_047427496.1",
"protein_id": "XP_047283452.1",
"transcript_support_level": null,
"aa_start": 1602,
"aa_end": null,
"aa_length": 2372,
"cds_start": 4804,
"cds_end": null,
"cds_length": 7119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "n.4783C>T",
"hgvs_p": null,
"transcript": "ENST00000647510.2",
"protein_id": "ENSP00000508362.1",
"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": "ENST00000647510.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "n.4783C>T",
"hgvs_p": null,
"transcript": "ENST00000713737.1",
"protein_id": "ENSP00000519041.1",
"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": "ENST00000713737.1"
}
],
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"dbsnp": "rs549977438",
"frequency_reference_population": 0.000008054034,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000410462,
"gnomad_genomes_af": 0.0000459529,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20934966206550598,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.1555,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.628,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001411025.1",
"gene_symbol": "SPTBN2",
"hgnc_id": 11276,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4804C>T",
"hgvs_p": "p.Arg1602Cys"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}