← 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: 2-230207994-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230207994&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SP110",
"hgnc_id": 5401,
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001378442.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SP140",
"hgnc_id": 17133,
"hgvs_c": "c.-323+4715C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000456542.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0611,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03292137384414673,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 713,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6192,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 2142,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_080424.4",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258381.11",
"protein_coding": true,
"protein_id": "NP_536349.3",
"strand": false,
"transcript": "NM_080424.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 713,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6192,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 2142,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000258381.11",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_080424.4",
"protein_coding": true,
"protein_id": "ENSP00000258381.6",
"strand": false,
"transcript": "ENST00000258381.11",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 689,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6120,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 2070,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000358662.9",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351488.4",
"strand": false,
"transcript": "ENST00000358662.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1650,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000258382.10",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258382.5",
"strand": false,
"transcript": "ENST00000258382.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 547,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1644,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000392048.7",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375902.3",
"strand": false,
"transcript": "ENST00000392048.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 745,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6341,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 2238,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001378442.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365371.1",
"strand": false,
"transcript": "NM_001378442.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 739,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6270,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 2220,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001378443.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365372.1",
"strand": false,
"transcript": "NM_001378443.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 719,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6263,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 2160,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001378444.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365373.1",
"strand": false,
"transcript": "NM_001378444.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 695,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6191,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 2088,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001378445.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365374.1",
"strand": false,
"transcript": "NM_001378445.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 689,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6120,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 2070,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_004509.5",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004500.4",
"strand": false,
"transcript": "NM_004509.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 689,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 2070,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000897327.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567386.1",
"strand": false,
"transcript": "ENST00000897327.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 666,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 995,
"cds_end": null,
"cds_length": 2001,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948170.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618229.1",
"strand": false,
"transcript": "ENST00000948170.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 648,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6050,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1947,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001378446.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365375.1",
"strand": false,
"transcript": "NM_001378446.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 642,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1929,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897325.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567384.1",
"strand": false,
"transcript": "ENST00000897325.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 639,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2226,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1920,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897328.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567387.1",
"strand": false,
"transcript": "ENST00000897328.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 633,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1902,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000931303.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601362.1",
"strand": false,
"transcript": "ENST00000931303.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 616,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1851,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948168.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618227.1",
"strand": false,
"transcript": "ENST00000948168.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 592,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1779,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000897326.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567385.1",
"strand": false,
"transcript": "ENST00000897326.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 555,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1668,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001185015.2",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171944.1",
"strand": false,
"transcript": "NM_001185015.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 555,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 1668,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000540870.5",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439558.1",
"strand": false,
"transcript": "ENST00000540870.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1650,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_004510.4",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004501.4",
"strand": false,
"transcript": "NM_004510.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 532,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1599,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000489597.2",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513565.1",
"strand": false,
"transcript": "ENST00000489597.2",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 519,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1560,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948169.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618228.1",
"strand": false,
"transcript": "ENST00000948169.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 499,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1500,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001378447.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365376.1",
"strand": false,
"transcript": "NM_001378447.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 482,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1449,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698103.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513567.1",
"strand": false,
"transcript": "ENST00000698103.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 346,
"aa_ref": "G",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1798,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1041,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000462232.2",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.286G>C",
"hgvs_p": "p.Gly96Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513566.1",
"strand": false,
"transcript": "ENST00000462232.2",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 745,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6520,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 2238,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017003968.3",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859457.1",
"strand": false,
"transcript": "XM_017003968.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 695,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6191,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 2088,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011511090.4",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509392.1",
"strand": false,
"transcript": "XM_011511090.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 672,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6122,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 2019,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011511091.4",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509393.1",
"strand": false,
"transcript": "XM_011511091.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 642,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5979,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1929,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047444120.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300076.1",
"strand": false,
"transcript": "XM_047444120.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 598,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5900,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1797,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_024452850.2",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308618.1",
"strand": false,
"transcript": "XM_024452850.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 592,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5829,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1779,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047444121.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Gly299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300077.1",
"strand": false,
"transcript": "XM_047444121.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 536,
"aa_ref": "G",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6122,
"cdna_start": 859,
"cds_end": null,
"cds_length": 1611,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011511092.4",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.286G>C",
"hgvs_p": "p.Gly96Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509394.1",
"strand": false,
"transcript": "XM_011511092.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 505,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1518,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017003969.2",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "c.913G>C",
"hgvs_p": "p.Gly305Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859458.1",
"strand": false,
"transcript": "XM_017003969.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 28,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 580,
"cdna_start": null,
"cds_end": null,
"cds_length": 88,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456542.5",
"gene_hgnc_id": 17133,
"gene_symbol": "SP140",
"hgvs_c": "c.-323+4715C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000475284.1",
"strand": true,
"transcript": "ENST00000456542.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 847,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": null,
"cds_end": null,
"cds_length": 2544,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011510517.4",
"gene_hgnc_id": 17133,
"gene_symbol": "SP140",
"hgvs_c": "c.-234+4301C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508819.1",
"strand": true,
"transcript": "XM_011510517.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 847,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16241,
"cdna_start": null,
"cds_end": null,
"cds_length": 2544,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443073.1",
"gene_hgnc_id": 17133,
"gene_symbol": "SP140",
"hgvs_c": "c.-233-5660C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299029.1",
"strand": true,
"transcript": "XM_047443073.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 891,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000486146.2",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "n.457G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000486146.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 873,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000490880.5",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "n.222G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000490880.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698099.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "n.895G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513563.1",
"strand": false,
"transcript": "ENST00000698099.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698100.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "n.895G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513564.1",
"strand": false,
"transcript": "ENST00000698100.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3421,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698102.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "n.1036G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000698102.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698104.1",
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"hgvs_c": "n.1036G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000698104.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 387,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441657.1",
"gene_hgnc_id": 17133,
"gene_symbol": "SP140",
"hgvs_c": "n.70+4301C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000441657.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1365776",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 5401,
"gene_symbol": "SP110",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.235,
"pos": 230207994,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.022,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001378442.1"
}
]
}