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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: 11-112088901-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=112088901&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SDHD",
"hgnc_id": 10683,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Ser68Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_003002.4",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000255292",
"hgnc_id": null,
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000532699.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 44520,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "11",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " nuclear type 3,Carney-Stratakis syndrome,Cowden syndrome 3,Hereditary cancer-predisposing syndrome,Hereditary pheochromocytoma-paraganglioma,Mitochondrial complex 2 deficiency,Paragangliomas with sensorineural hearing loss,Pheochromocytoma,Pheochromocytoma/paraganglioma syndrome 1,Pheochromocytoma/paraganglioma syndrome 3,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:18",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6100000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 159,
"aa_ref": "S",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 239,
"cds_end": null,
"cds_length": 480,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003002.4",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Ser68Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375549.8",
"protein_coding": true,
"protein_id": "NP_002993.1",
"strand": true,
"transcript": "NM_003002.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 159,
"aa_ref": "S",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 239,
"cds_end": null,
"cds_length": 480,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000375549.8",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Ser68Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003002.4",
"protein_coding": true,
"protein_id": "ENSP00000364699.3",
"strand": true,
"transcript": "ENST00000375549.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 85,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 905,
"cdna_start": null,
"cds_end": null,
"cds_length": 258,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528048.5",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.169+928C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436217.1",
"strand": true,
"transcript": "ENST00000528048.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000532699.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255292",
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456434.1",
"strand": true,
"transcript": "ENST00000532699.1",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 152,
"aa_ref": "S",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 264,
"cds_end": null,
"cds_length": 459,
"cds_start": 183,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938877.1",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Ser61Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608936.1",
"strand": true,
"transcript": "ENST00000938877.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 143,
"aa_ref": "S",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 239,
"cds_end": null,
"cds_length": 432,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001276506.2",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Ser68Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263435.1",
"strand": true,
"transcript": "NM_001276506.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 143,
"aa_ref": "S",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 861,
"cdna_start": 213,
"cds_end": null,
"cds_length": 432,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526592.5",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Ser68Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432005.1",
"strand": true,
"transcript": "ENST00000526592.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 131,
"aa_ref": "S",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 754,
"cdna_start": 240,
"cds_end": null,
"cds_length": 396,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000528182.5",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Ser68Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435475.1",
"strand": true,
"transcript": "ENST00000528182.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 120,
"aa_ref": "S",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1222,
"cdna_start": 122,
"cds_end": null,
"cds_length": 363,
"cds_start": 87,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001276504.2",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.87C>T",
"hgvs_p": "p.Ser29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263433.1",
"strand": true,
"transcript": "NM_001276504.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 120,
"aa_ref": "S",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 790,
"cdna_start": 96,
"cds_end": null,
"cds_length": 363,
"cds_start": 87,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000525291.5",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.87C>T",
"hgvs_p": "p.Ser29Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436669.1",
"strand": true,
"transcript": "ENST00000525291.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 104,
"aa_ref": "S",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1074,
"cdna_start": 239,
"cds_end": null,
"cds_length": 315,
"cds_start": 204,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000528021.6",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Ser68Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432465.1",
"strand": true,
"transcript": "ENST00000528021.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 85,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1194,
"cdna_start": null,
"cds_end": null,
"cds_length": 258,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001276503.2",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "c.169+928C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263432.1",
"strand": true,
"transcript": "NM_001276503.2",
"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": 968,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000525987.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255292",
"hgvs_c": "n.209C>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": "ENST00000525987.5",
"transcript_support_level": 4
},
{
"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": 762,
"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": "ENST00000530923.6",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432946.2",
"strand": true,
"transcript": "ENST00000530923.6",
"transcript_support_level": 5
},
{
"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": 566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000531744.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255292",
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456957.1",
"strand": true,
"transcript": "ENST00000531744.5",
"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": 664,
"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": "ENST00000534010.2",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433202.2",
"strand": true,
"transcript": "ENST00000534010.2",
"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": 727,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000640554.1",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "n.*276C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491141.1",
"strand": true,
"transcript": "ENST00000640554.1",
"transcript_support_level": 5
},
{
"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": 1456,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000714087.1",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "n.*250C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519378.1",
"strand": true,
"transcript": "ENST00000714087.1",
"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": 1280,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000714090.1",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "n.*1C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519381.1",
"strand": true,
"transcript": "ENST00000714090.1",
"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": 1421,
"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": "ENST00000714091.1",
"gene_hgnc_id": 10683,
"gene_symbol": "SDHD",
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519382.1",
"strand": true,
"transcript": "ENST00000714091.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
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{
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}
],
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"dbsnp": "rs9919552",
"effect": "synonymous_variant",
"frequency_reference_population": 0.02760961,
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"gene_symbol": "SDHD",
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"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|Hereditary cancer-predisposing syndrome|Pheochromocytoma|not provided|Mitochondrial complex 2 deficiency, nuclear type 3|Pheochromocytoma/paraganglioma syndrome 3|Pheochromocytoma/paraganglioma syndrome 1|Hereditary pheochromocytoma-paraganglioma|Cowden syndrome 3;Pheochromocytoma;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss|Pheochromocytoma/paraganglioma syndrome 1;Mitochondrial complex 2 deficiency, nuclear type 3;Carney-Stratakis syndrome",
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"spliceai_max_prediction": "Benign",
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"transcript": "NM_003002.4"
}
]
}