← 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: 2-241034684-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241034684&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SNED1",
"hgnc_id": 24696,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001080437.3",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SNED1-AS1",
"hgnc_id": 41060,
"hgvs_c": "n.38-1081G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000458377.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8394,
"cdna_start": 979,
"cds_end": null,
"cds_length": 4242,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001080437.3",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310397.13",
"protein_coding": true,
"protein_id": "NP_001073906.1",
"strand": true,
"transcript": "NM_001080437.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8394,
"cdna_start": 979,
"cds_end": null,
"cds_length": 4242,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000310397.13",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001080437.3",
"protein_coding": true,
"protein_id": "ENSP00000308893.8",
"strand": true,
"transcript": "ENST00000310397.13",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5817,
"cdna_start": 920,
"cds_end": null,
"cds_length": 4221,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957411.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627470.1",
"strand": true,
"transcript": "ENST00000957411.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1380,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8302,
"cdna_start": 985,
"cds_end": null,
"cds_length": 4143,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957409.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627468.1",
"strand": true,
"transcript": "ENST00000957409.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1375,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5787,
"cdna_start": 979,
"cds_end": null,
"cds_length": 4128,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858292.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528351.1",
"strand": true,
"transcript": "ENST00000858292.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7986,
"cdna_start": 759,
"cds_end": null,
"cds_length": 4059,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000405547.7",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386007.3",
"strand": true,
"transcript": "ENST00000405547.7",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5613,
"cdna_start": 910,
"cds_end": null,
"cds_length": 4029,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929493.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599552.1",
"strand": true,
"transcript": "ENST00000929493.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4538,
"cdna_start": 759,
"cds_end": null,
"cds_length": 3975,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000401884.5",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384871.1",
"strand": true,
"transcript": "ENST00000401884.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5621,
"cdna_start": 976,
"cds_end": null,
"cds_length": 3972,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957410.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627469.1",
"strand": true,
"transcript": "ENST00000957410.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1246,
"aa_ref": "F",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5334,
"cdna_start": 631,
"cds_end": null,
"cds_length": 3741,
"cds_start": 471,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957412.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.471C>T",
"hgvs_p": "p.Phe157Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627471.1",
"strand": true,
"transcript": "ENST00000957412.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "F",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8254,
"cdna_start": 839,
"cds_end": null,
"cds_length": 4314,
"cds_start": 831,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011510931.3",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Phe277Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509233.1",
"strand": true,
"transcript": "XM_011510931.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "F",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": 839,
"cds_end": null,
"cds_length": 4314,
"cds_start": 831,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047443884.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Phe277Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299840.1",
"strand": true,
"transcript": "XM_047443884.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1404,
"aa_ref": "F",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8155,
"cdna_start": 839,
"cds_end": null,
"cds_length": 4215,
"cds_start": 831,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011510932.3",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Phe277Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509234.1",
"strand": true,
"transcript": "XM_011510932.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1399,
"aa_ref": "F",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8140,
"cdna_start": 839,
"cds_end": null,
"cds_length": 4200,
"cds_start": 831,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047443885.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Phe277Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299841.1",
"strand": true,
"transcript": "XM_047443885.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1380,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8295,
"cdna_start": 979,
"cds_end": null,
"cds_length": 4143,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047443886.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299842.1",
"strand": true,
"transcript": "XM_047443886.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1375,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8280,
"cdna_start": 979,
"cds_end": null,
"cds_length": 4128,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047443887.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299843.1",
"strand": true,
"transcript": "XM_047443887.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1366,
"aa_ref": "F",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8041,
"cdna_start": 839,
"cds_end": null,
"cds_length": 4101,
"cds_start": 831,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047443888.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Phe277Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299844.1",
"strand": true,
"transcript": "XM_047443888.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1351,
"aa_ref": "F",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8461,
"cdna_start": 839,
"cds_end": null,
"cds_length": 4056,
"cds_start": 831,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024452784.2",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Phe277Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308552.1",
"strand": true,
"transcript": "XM_024452784.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "F",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8181,
"cdna_start": 979,
"cds_end": null,
"cds_length": 4029,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047443889.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Phe253Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299845.1",
"strand": true,
"transcript": "XM_047443889.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "F",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": 839,
"cds_end": null,
"cds_length": 3948,
"cds_start": 831,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011510934.4",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Phe277Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509236.1",
"strand": true,
"transcript": "XM_011510934.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "F",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3842,
"cdna_start": 839,
"cds_end": null,
"cds_length": 3696,
"cds_start": 831,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047443890.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Phe277Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299846.1",
"strand": true,
"transcript": "XM_047443890.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "F",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3839,
"cdna_start": 839,
"cds_end": null,
"cds_length": 3696,
"cds_start": 831,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047443891.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Phe277Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299847.1",
"strand": true,
"transcript": "XM_047443891.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 905,
"aa_ref": "F",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 839,
"cds_end": null,
"cds_length": 2718,
"cds_start": 831,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011510937.3",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "c.831C>T",
"hgvs_p": "p.Phe277Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509239.1",
"strand": true,
"transcript": "XM_011510937.3",
"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": 9143,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XR_002959254.2",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "n.839C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002959254.2",
"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": 9283,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XR_002959255.2",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "n.979C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002959255.2",
"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": 9044,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XR_002959256.2",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "n.839C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002959256.2",
"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": 9029,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XR_002959257.2",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "n.839C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002959257.2",
"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": 8915,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XR_002959258.2",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "n.839C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002959258.2",
"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": 9435,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XR_002959260.2",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "n.1131C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002959260.2",
"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": 8991,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XR_002959262.2",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "n.687C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002959262.2",
"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": 9379,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XR_007071512.1",
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"hgvs_c": "n.1075C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007071512.1",
"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": 559,
"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": "ENST00000458377.1",
"gene_hgnc_id": 41060,
"gene_symbol": "SNED1-AS1",
"hgvs_c": "n.38-1081G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000458377.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9480,
"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": "NR_187211.1",
"gene_hgnc_id": 41060,
"gene_symbol": "SNED1-AS1",
"hgvs_c": "n.40-1081G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_187211.1",
"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": 2670,
"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": "NR_187212.1",
"gene_hgnc_id": 41060,
"gene_symbol": "SNED1-AS1",
"hgvs_c": "n.40-1081G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_187212.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs980324490",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000006570475,
"gene_hgnc_id": 24696,
"gene_symbol": "SNED1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657047,
"gnomad_genomes_homalt": 0,
"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": 2.532,
"pos": 241034684,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_001080437.3"
}
]
}