← 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: 2-231127-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231127&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 231127,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015677.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Ala200Thr",
"transcript": "NM_015677.4",
"protein_id": "NP_056492.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 342,
"cds_start": 598,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356150.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015677.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Ala200Thr",
"transcript": "ENST00000356150.10",
"protein_id": "ENSP00000348471.5",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 342,
"cds_start": 598,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015677.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356150.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Ala200Thr",
"transcript": "ENST00000403712.6",
"protein_id": "ENSP00000384276.1",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 323,
"cds_start": 598,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403712.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "ENST00000626873.2",
"protein_id": "ENSP00000485824.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 246,
"cds_start": 310,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626873.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.2270G>A",
"hgvs_p": null,
"transcript": "ENST00000468321.5",
"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": "pseudogene",
"feature": "ENST00000468321.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.1431G>A",
"hgvs_p": null,
"transcript": "ENST00000473104.5",
"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": "pseudogene",
"feature": "ENST00000473104.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Ala200Thr",
"transcript": "ENST00000890691.1",
"protein_id": "ENSP00000560750.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 378,
"cds_start": 598,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890691.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Ala200Thr",
"transcript": "ENST00000971972.1",
"protein_id": "ENSP00000642031.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 359,
"cds_start": 598,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971972.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Ala200Thr",
"transcript": "ENST00000405430.5",
"protein_id": "ENSP00000384269.1",
"transcript_support_level": 5,
"aa_start": 200,
"aa_end": null,
"aa_length": 342,
"cds_start": 598,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405430.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000971971.1",
"protein_id": "ENSP00000642030.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 335,
"cds_start": 469,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971971.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Ala200Thr",
"transcript": "NM_001159597.3",
"protein_id": "NP_001153069.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 323,
"cds_start": 598,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159597.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000936193.1",
"protein_id": "ENSP00000606252.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 316,
"cds_start": 469,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936193.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000890690.1",
"protein_id": "ENSP00000560749.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 299,
"cds_start": 469,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890690.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Ala162Thr",
"transcript": "ENST00000936192.1",
"protein_id": "ENSP00000606251.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 285,
"cds_start": 484,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936192.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "ENST00000451005.5",
"protein_id": "ENSP00000416312.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 255,
"cds_start": 394,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451005.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "NM_001282687.2",
"protein_id": "NP_001269616.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 246,
"cds_start": 310,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282687.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Ala156Thr",
"transcript": "ENST00000431160.5",
"protein_id": "ENSP00000399519.1",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 230,
"cds_start": 466,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431160.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "NM_001282682.2",
"protein_id": "NP_001269611.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 227,
"cds_start": 310,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282682.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "ENST00000403657.5",
"protein_id": "ENSP00000385668.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 227,
"cds_start": 310,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403657.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Ala104Thr",
"transcript": "ENST00000403658.5",
"protein_id": "ENSP00000383928.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 227,
"cds_start": 310,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403658.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Ala46Thr",
"transcript": "ENST00000481932.1",
"protein_id": "ENSP00000474411.1",
"transcript_support_level": 3,
"aa_start": 46,
"aa_end": null,
"aa_length": 97,
"cds_start": 136,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.292-1083G>A",
"hgvs_p": null,
"transcript": "ENST00000971970.1",
"protein_id": "ENSP00000642029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971970.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.906G>A",
"hgvs_p": null,
"transcript": "ENST00000463865.5",
"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": "pseudogene",
"feature": "ENST00000463865.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.1370G>A",
"hgvs_p": null,
"transcript": "ENST00000471948.5",
"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": "ENST00000471948.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.33G>A",
"hgvs_p": null,
"transcript": "ENST00000472012.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000472012.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.310G>A",
"hgvs_p": null,
"transcript": "ENST00000479739.6",
"protein_id": "ENSP00000441266.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000479739.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.2270G>A",
"hgvs_p": null,
"transcript": "NR_104223.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104223.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.906G>A",
"hgvs_p": null,
"transcript": "NR_104225.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.1431G>A",
"hgvs_p": null,
"transcript": "NR_104226.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.1777G>A",
"hgvs_p": null,
"transcript": "NR_104227.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104227.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.*10G>A",
"hgvs_p": null,
"transcript": "ENST00000488044.5",
"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": "ENST00000488044.5"
}
],
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"dbsnp": "rs968837112",
"frequency_reference_population": 0.000006195879,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615689,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5669277310371399,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.21,
"revel_prediction": "Benign",
"alphamissense_score": 0.1081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.564,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015677.4",
"gene_symbol": "SH3YL1",
"hgnc_id": 29546,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Ala200Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}