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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: 5-70049690-CG-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=70049690&ref=CG&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SMN2",
"hgnc_id": 11118,
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_017411.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 294,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1482,
"cdna_start": 22,
"cds_end": null,
"cds_length": 885,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017411.4",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380743.9",
"protein_coding": true,
"protein_id": "NP_059107.1",
"strand": true,
"transcript": "NM_017411.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 294,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1482,
"cdna_start": 22,
"cds_end": null,
"cds_length": 885,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380743.9",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017411.4",
"protein_coding": true,
"protein_id": "ENSP00000370119.4",
"strand": true,
"transcript": "ENST00000380743.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 294,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 900,
"cdna_start": 5,
"cds_end": null,
"cds_length": 885,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380741.8",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370117.5",
"strand": true,
"transcript": "ENST00000380741.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1440,
"cdna_start": 37,
"cds_end": null,
"cds_length": 849,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000626847.2",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486152.1",
"strand": true,
"transcript": "ENST00000626847.2",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 294,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 885,
"cdna_start": 5,
"cds_end": null,
"cds_length": 885,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000628696.2",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486268.1",
"strand": true,
"transcript": "ENST00000628696.2",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 22,
"cds_end": null,
"cds_length": 849,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022875.3",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_075013.1",
"strand": true,
"transcript": "NM_022875.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 270,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": 53,
"cds_end": null,
"cds_length": 813,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940689.1",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610748.1",
"strand": true,
"transcript": "ENST00000940689.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 262,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 168,
"cds_end": null,
"cds_length": 789,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022876.2",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_075014.1",
"strand": true,
"transcript": "NM_022876.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 262,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": 27,
"cds_end": null,
"cds_length": 789,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380742.8",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370118.4",
"strand": true,
"transcript": "ENST00000380742.8",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 262,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 804,
"cdna_start": 5,
"cds_end": null,
"cds_length": 789,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614240.4",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479279.1",
"strand": true,
"transcript": "ENST00000614240.4",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 250,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 168,
"cds_end": null,
"cds_length": 753,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022877.2",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_075015.1",
"strand": true,
"transcript": "NM_022877.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 227,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 867,
"cdna_start": 53,
"cds_end": null,
"cds_length": 684,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000511812.5",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424282.1",
"strand": true,
"transcript": "ENST00000511812.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 227,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 56,
"cds_end": null,
"cds_length": 684,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940688.1",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610747.1",
"strand": true,
"transcript": "ENST00000940688.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 176,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": 47,
"cds_end": null,
"cds_length": 531,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940690.1",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610749.1",
"strand": true,
"transcript": "ENST00000940690.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 295,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1064,
"cdna_start": 168,
"cds_end": null,
"cds_length": 888,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417619.1",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273575.1",
"strand": true,
"transcript": "XM_047417619.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 294,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1215,
"cdna_start": 168,
"cds_end": null,
"cds_length": 885,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543599.2",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541901.1",
"strand": true,
"transcript": "XM_011543599.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 290,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1211,
"cdna_start": 168,
"cds_end": null,
"cds_length": 873,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009787.2",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865276.1",
"strand": true,
"transcript": "XM_017009787.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 263,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 968,
"cdna_start": 168,
"cds_end": null,
"cds_length": 792,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417620.1",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273576.1",
"strand": true,
"transcript": "XM_047417620.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 228,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 863,
"cdna_start": 168,
"cds_end": null,
"cds_length": 687,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417621.1",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273577.1",
"strand": true,
"transcript": "XM_047417621.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 227,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 168,
"cds_end": null,
"cds_length": 684,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543600.3",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541902.1",
"strand": true,
"transcript": "XM_011543600.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 215,
"aa_ref": "A",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1373,
"cdna_start": 168,
"cds_end": null,
"cds_length": 648,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543601.2",
"gene_hgnc_id": 11118,
"gene_symbol": "SMN2",
"hgvs_c": "c.5_6delCGinsGC",
"hgvs_p": "p.Ala2Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541903.1",
"strand": true,
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