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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: 5-251056-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=251056&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 251056,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004168.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1616T>G",
"hgvs_p": "p.Ile539Ser",
"transcript": "NM_004168.4",
"protein_id": "NP_004159.2",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 664,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": "ENST00000264932.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004168.4"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1616T>G",
"hgvs_p": "p.Ile539Ser",
"transcript": "ENST00000264932.11",
"protein_id": "ENSP00000264932.6",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 664,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": "NM_004168.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264932.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286001",
"gene_hgnc_id": null,
"hgvs_c": "n.*349T>G",
"hgvs_p": null,
"transcript": "ENST00000651543.1",
"protein_id": "ENSP00000499215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286001",
"gene_hgnc_id": null,
"hgvs_c": "n.*349T>G",
"hgvs_p": null,
"transcript": "ENST00000651543.1",
"protein_id": "ENSP00000499215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651543.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1802T>G",
"hgvs_p": "p.Ile601Ser",
"transcript": "ENST00000874235.1",
"protein_id": "ENSP00000544294.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 726,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874235.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1769T>G",
"hgvs_p": "p.Ile590Ser",
"transcript": "ENST00000952715.1",
"protein_id": "ENSP00000622774.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 715,
"cds_start": 1769,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952715.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1670T>G",
"hgvs_p": "p.Ile557Ser",
"transcript": "ENST00000874242.1",
"protein_id": "ENSP00000544301.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 682,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874242.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1616T>G",
"hgvs_p": "p.Ile539Ser",
"transcript": "ENST00000952713.1",
"protein_id": "ENSP00000622772.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 681,
"cds_start": 1616,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952713.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1643T>G",
"hgvs_p": "p.Ile548Ser",
"transcript": "ENST00000952712.1",
"protein_id": "ENSP00000622771.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 673,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952712.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1640T>G",
"hgvs_p": "p.Ile547Ser",
"transcript": "ENST00000874248.1",
"protein_id": "ENSP00000544307.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 672,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874248.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1622T>G",
"hgvs_p": "p.Ile541Ser",
"transcript": "ENST00000952708.1",
"protein_id": "ENSP00000622767.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 666,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952708.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1613T>G",
"hgvs_p": "p.Ile538Ser",
"transcript": "ENST00000874234.1",
"protein_id": "ENSP00000544293.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 663,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874234.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1613T>G",
"hgvs_p": "p.Ile538Ser",
"transcript": "ENST00000952707.1",
"protein_id": "ENSP00000622766.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 663,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952707.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1592T>G",
"hgvs_p": "p.Ile531Ser",
"transcript": "ENST00000874246.1",
"protein_id": "ENSP00000544305.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 656,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874246.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1583T>G",
"hgvs_p": "p.Ile528Ser",
"transcript": "ENST00000874244.1",
"protein_id": "ENSP00000544303.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 653,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874244.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1583T>G",
"hgvs_p": "p.Ile528Ser",
"transcript": "ENST00000952709.1",
"protein_id": "ENSP00000622768.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 653,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952709.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1571T>G",
"hgvs_p": "p.Ile524Ser",
"transcript": "ENST00000952716.1",
"protein_id": "ENSP00000622775.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 649,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952716.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1565T>G",
"hgvs_p": "p.Ile522Ser",
"transcript": "ENST00000952711.1",
"protein_id": "ENSP00000622770.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 647,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952711.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1616T>G",
"hgvs_p": "p.Ile539Ser",
"transcript": "ENST00000874236.1",
"protein_id": "ENSP00000544295.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 626,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874236.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1472T>G",
"hgvs_p": "p.Ile491Ser",
"transcript": "NM_001294332.2",
"protein_id": "NP_001281261.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 616,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001294332.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1472T>G",
"hgvs_p": "p.Ile491Ser",
"transcript": "ENST00000510361.5",
"protein_id": "ENSP00000427703.1",
"transcript_support_level": 2,
"aa_start": 491,
"aa_end": null,
"aa_length": 616,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510361.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1451T>G",
"hgvs_p": "p.Ile484Ser",
"transcript": "ENST00000874233.1",
"protein_id": "ENSP00000544292.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 609,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1487,
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "n.1652T>G",
"hgvs_p": null,
"transcript": "XR_007058614.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6874,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "n.85+13T>G",
"hgvs_p": null,
"transcript": "ENST00000509082.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 434,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000509082.1"
}
],
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"dbsnp": "rs749219128",
"frequency_reference_population": 0.000012331233,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000123312,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9260374903678894,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.761,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8309,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.316,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004168.4",
"gene_symbol": "SDHA",
"hgnc_id": 10680,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1616T>G",
"hgvs_p": "p.Ile539Ser"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651543.1",
"gene_symbol": "ENSG00000286001",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*349T>G",
"hgvs_p": null
}
],
"clinvar_disease": " nuclear type 1,Dilated cardiomyopathy 1GG,Hereditary cancer-predisposing syndrome,Mitochondrial complex II deficiency,Pheochromocytoma/paraganglioma syndrome 5,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Hereditary cancer-predisposing syndrome|Dilated cardiomyopathy 1GG|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}