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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: 7-88219979-GC-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=88219979&ref=GC&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SRI",
"hgnc_id": 11292,
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003130.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "SRI-AS1",
"hgnc_id": 40564,
"hgvs_c": "n.574+755_574+756delGCinsAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NR_120517.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"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": "V",
"aa_end": null,
"aa_length": 198,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": 60,
"cds_end": null,
"cds_length": 597,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003130.4",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265729.7",
"protein_coding": true,
"protein_id": "NP_003121.1",
"strand": false,
"transcript": "NM_003130.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 198,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": 60,
"cds_end": null,
"cds_length": 597,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265729.7",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003130.4",
"protein_coding": true,
"protein_id": "ENSP00000265729.3",
"strand": false,
"transcript": "ENST00000265729.7",
"transcript_support_level": 1
},
{
"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": 1024,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000486860.5",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "n.81_82delGCinsTT",
"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": "ENST00000486860.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 208,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 60,
"cds_end": null,
"cds_length": 627,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879560.1",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549619.1",
"strand": false,
"transcript": "ENST00000879560.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": 60,
"cds_end": null,
"cds_length": 588,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256891.2",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243820.1",
"strand": false,
"transcript": "NM_001256891.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 185,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": 63,
"cds_end": null,
"cds_length": 558,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936811.1",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606870.1",
"strand": false,
"transcript": "ENST00000936811.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 170,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 712,
"cdna_start": 58,
"cds_end": null,
"cds_length": 513,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879561.1",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549620.1",
"strand": false,
"transcript": "ENST00000879561.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 158,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1307,
"cdna_start": 58,
"cds_end": null,
"cds_length": 477,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000419179.5",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397609.1",
"strand": false,
"transcript": "ENST00000419179.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 145,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": 80,
"cds_end": null,
"cds_length": 438,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936810.1",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606869.1",
"strand": false,
"transcript": "ENST00000936810.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 134,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 101,
"cds_end": null,
"cds_length": 405,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879559.1",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549618.1",
"strand": false,
"transcript": "ENST00000879559.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 128,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 591,
"cdna_start": 63,
"cds_end": null,
"cds_length": 387,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936812.1",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.47_48delGCinsTT",
"hgvs_p": "p.Gly16Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606871.1",
"strand": false,
"transcript": "ENST00000936812.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 183,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": null,
"cds_end": null,
"cds_length": 552,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198901.2",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.7-1038_7-1037delGCinsTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_944490.1",
"strand": false,
"transcript": "NM_198901.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 183,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": null,
"cds_end": null,
"cds_length": 552,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394641.7",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.7-1038_7-1037delGCinsTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378137.3",
"strand": false,
"transcript": "ENST00000394641.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 180,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 899,
"cdna_start": null,
"cds_end": null,
"cds_length": 543,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256892.2",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.7-1038_7-1037delGCinsTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243821.1",
"strand": false,
"transcript": "NM_001256892.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 180,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": null,
"cds_end": null,
"cds_length": 543,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431660.5",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.7-1038_7-1037delGCinsTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391148.1",
"strand": false,
"transcript": "ENST00000431660.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 570,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000490437.5",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "c.7-2789_7-2788delGCinsTT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418512.1",
"strand": false,
"transcript": "ENST00000490437.5",
"transcript_support_level": 2
},
{
"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": 769,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000457606.5",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "n.47_48delGCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000415271.1",
"strand": false,
"transcript": "ENST00000457606.5",
"transcript_support_level": 5
},
{
"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": 588,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000488015.5",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "n.59_60delGCinsTT",
"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": "ENST00000488015.5",
"transcript_support_level": 2
},
{
"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": 557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000489079.1",
"gene_hgnc_id": 11292,
"gene_symbol": "SRI",
"hgvs_c": "n.46-1038_46-1037delGCinsTT",
"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": "ENST00000489079.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591739.2",
"gene_hgnc_id": 40564,
"gene_symbol": "SRI-AS1",
"hgvs_c": "n.662+755_662+756delGCinsAA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000591739.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 484,
"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": "ENST00000594469.5",
"gene_hgnc_id": 40564,
"gene_symbol": "SRI-AS1",
"hgvs_c": "n.128+493_128+494delGCinsAA",
"hgvs_p": null,
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