← 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: 4-2829843-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2829843&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 2829843,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145856.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "NM_001122681.2",
"protein_id": "NP_001116153.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000503393.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122681.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000503393.8",
"protein_id": "ENSP00000422168.3",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001122681.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503393.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Gly370Arg",
"transcript": "ENST00000511747.6",
"protein_id": "ENSP00000424846.2",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 618,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511747.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.1198G>A",
"hgvs_p": null,
"transcript": "ENST00000356331.10",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000356331.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Gly370Arg",
"transcript": "NM_001145856.2",
"protein_id": "NP_001139328.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 618,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145856.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Gly370Arg",
"transcript": "ENST00000932791.1",
"protein_id": "ENSP00000602850.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 618,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932791.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Arg",
"transcript": "NM_001145855.2",
"protein_id": "NP_001139327.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 589,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145855.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Arg",
"transcript": "ENST00000435136.8",
"protein_id": "ENSP00000403231.3",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 589,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435136.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893561.1",
"protein_id": "ENSP00000563620.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 573,
"cds_start": 937,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893561.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "NM_003023.4",
"protein_id": "NP_003014.3",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003023.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000502260.6",
"protein_id": "ENSP00000425537.2",
"transcript_support_level": 3,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502260.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000503219.7",
"protein_id": "ENSP00000422796.2",
"transcript_support_level": 4,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503219.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000504294.6",
"protein_id": "ENSP00000423275.2",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504294.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000508385.6",
"protein_id": "ENSP00000424917.2",
"transcript_support_level": 3,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508385.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000512014.6",
"protein_id": "ENSP00000424105.2",
"transcript_support_level": 3,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512014.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000513095.6",
"protein_id": "ENSP00000423823.2",
"transcript_support_level": 4,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513095.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893545.1",
"protein_id": "ENSP00000563604.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893545.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893546.1",
"protein_id": "ENSP00000563605.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893546.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893548.1",
"protein_id": "ENSP00000563607.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893548.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893549.1",
"protein_id": "ENSP00000563608.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893549.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893550.1",
"protein_id": "ENSP00000563609.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893550.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893551.1",
"protein_id": "ENSP00000563610.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893551.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893552.1",
"protein_id": "ENSP00000563611.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893552.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893553.1",
"protein_id": "ENSP00000563612.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893553.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893554.1",
"protein_id": "ENSP00000563613.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893554.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893555.1",
"protein_id": "ENSP00000563614.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893555.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893556.1",
"protein_id": "ENSP00000563615.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893556.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893557.1",
"protein_id": "ENSP00000563616.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893557.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893558.1",
"protein_id": "ENSP00000563617.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893558.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893559.1",
"protein_id": "ENSP00000563618.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893559.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893560.1",
"protein_id": "ENSP00000563619.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893560.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893562.1",
"protein_id": "ENSP00000563621.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893562.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893563.1",
"protein_id": "ENSP00000563622.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893563.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893564.1",
"protein_id": "ENSP00000563623.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893564.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893565.1",
"protein_id": "ENSP00000563624.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893565.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893566.1",
"protein_id": "ENSP00000563625.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893566.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893567.1",
"protein_id": "ENSP00000563626.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893567.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893568.1",
"protein_id": "ENSP00000563627.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893568.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"transcript": "ENST00000893569.1",
"protein_id": "ENSP00000563628.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 561,
"cds_start": 937,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893569.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Gly299Arg",
"transcript": "ENST00000932792.1",
"protein_id": "ENSP00000602851.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 547,
"cds_start": 895,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932792.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Gly16Arg",
"transcript": "ENST00000513069.1",
"protein_id": "ENSP00000426818.1",
"transcript_support_level": 3,
"aa_start": 16,
"aa_end": null,
"aa_length": 189,
"cds_start": 46,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513069.1"
},
{
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.587-1728G>A",
"hgvs_p": null,
"transcript": "ENST00000893547.1",
"protein_id": "ENSP00000563606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893547.1"
},
{
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.587-1728G>A",
"hgvs_p": null,
"transcript": "ENST00000893570.1",
"protein_id": "ENSP00000563629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893570.1"
},
{
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.587-1728G>A",
"hgvs_p": null,
"transcript": "ENST00000932793.1",
"protein_id": "ENSP00000602852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932793.1"
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.587-1728G>A",
"hgvs_p": null,
"transcript": "ENST00000964214.1",
"protein_id": "ENSP00000634273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964214.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "c.587-1728G>A",
"hgvs_p": null,
"transcript": "ENST00000714405.1",
"protein_id": "ENSP00000519673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714405.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.1414G>A",
"hgvs_p": null,
"transcript": "ENST00000510204.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000510204.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*818G>A",
"hgvs_p": null,
"transcript": "ENST00000513020.6",
"protein_id": "ENSP00000424072.1",
"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": "ENST00000513020.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.1377G>A",
"hgvs_p": null,
"transcript": "ENST00000515737.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000515737.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.1043G>A",
"hgvs_p": null,
"transcript": "ENST00000515802.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000515802.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*900G>A",
"hgvs_p": null,
"transcript": "ENST00000714406.1",
"protein_id": "ENSP00000519674.1",
"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": "ENST00000714406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*818G>A",
"hgvs_p": null,
"transcript": "ENST00000513020.6",
"protein_id": "ENSP00000424072.1",
"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": "ENST00000513020.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*900G>A",
"hgvs_p": null,
"transcript": "ENST00000714406.1",
"protein_id": "ENSP00000519674.1",
"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": "ENST00000714406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.539-1728G>A",
"hgvs_p": null,
"transcript": "ENST00000504450.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000504450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*472-1728G>A",
"hgvs_p": null,
"transcript": "ENST00000714407.1",
"protein_id": "ENSP00000519675.1",
"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": "ENST00000714407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*38G>A",
"hgvs_p": null,
"transcript": "ENST00000505941.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000505941.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"hgvs_c": "n.*109G>A",
"hgvs_p": null,
"transcript": "ENST00000515183.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000515183.5"
}
],
"gene_symbol": "SH3BP2",
"gene_hgnc_id": 10825,
"dbsnp": "rs141518457",
"frequency_reference_population": 0.001485618,
"hom_count_reference_population": 5,
"allele_count_reference_population": 2397,
"gnomad_exomes_af": 0.0015212,
"gnomad_genomes_af": 0.00114377,
"gnomad_exomes_ac": 2223,
"gnomad_genomes_ac": 174,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06416332721710205,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.1157,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.438,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001145856.2",
"gene_symbol": "SH3BP2",
"hgnc_id": 10825,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Gly370Arg"
}
],
"clinvar_disease": "Fibrous dysplasia of jaw,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:2 B:2",
"phenotype_combined": "Fibrous dysplasia of jaw|not provided|not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}