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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: 1-161340619-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161340619&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161340619,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000367975.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Ile69Val",
"transcript": "NM_003001.5",
"protein_id": "NP_002992.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 169,
"cds_start": 205,
"cds_end": null,
"cds_length": 510,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": "ENST00000367975.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Ile69Val",
"transcript": "ENST00000367975.7",
"protein_id": "ENSP00000356953.3",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 169,
"cds_start": 205,
"cds_end": null,
"cds_length": 510,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": "NM_003001.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Ile69Val",
"transcript": "ENST00000342751.8",
"protein_id": "ENSP00000356952.3",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 150,
"cds_start": 205,
"cds_end": null,
"cds_length": 453,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ile35Val",
"transcript": "ENST00000432287.6",
"protein_id": "ENSP00000390558.2",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 135,
"cds_start": 103,
"cds_end": null,
"cds_length": 408,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ile16Val",
"transcript": "ENST00000392169.6",
"protein_id": "ENSP00000376009.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 116,
"cds_start": 46,
"cds_end": null,
"cds_length": 351,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ile35Val",
"transcript": "ENST00000513009.5",
"protein_id": "ENSP00000423260.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 116,
"cds_start": 103,
"cds_end": null,
"cds_length": 351,
"cdna_start": 121,
"cdna_end": null,
"cdna_length": 369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.325A>G",
"hgvs_p": "p.Ile109Val",
"transcript": "NM_001407115.1",
"protein_id": "NP_001394044.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 209,
"cds_start": 325,
"cds_end": null,
"cds_length": 630,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.235A>G",
"hgvs_p": "p.Ile79Val",
"transcript": "ENST00000714063.1",
"protein_id": "ENSP00000519354.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 179,
"cds_start": 235,
"cds_end": null,
"cds_length": 540,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 1324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Ile69Val",
"transcript": "NM_001035511.3",
"protein_id": "NP_001030588.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 150,
"cds_start": 205,
"cds_end": null,
"cds_length": 453,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Ile50Val",
"transcript": "NM_001407116.1",
"protein_id": "NP_001394045.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 150,
"cds_start": 148,
"cds_end": null,
"cds_length": 453,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Ile50Val",
"transcript": "NM_001407117.1",
"protein_id": "NP_001394046.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 148,
"cds_start": 148,
"cds_end": null,
"cds_length": 447,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ile35Val",
"transcript": "NM_001035512.3",
"protein_id": "NP_001030589.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 135,
"cds_start": 103,
"cds_end": null,
"cds_length": 408,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ile35Val",
"transcript": "NM_001407118.1",
"protein_id": "NP_001394047.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 133,
"cds_start": 103,
"cds_end": null,
"cds_length": 402,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.94A>G",
"hgvs_p": "p.Ile32Val",
"transcript": "NM_001407119.1",
"protein_id": "NP_001394048.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 132,
"cds_start": 94,
"cds_end": null,
"cds_length": 399,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.94A>G",
"hgvs_p": "p.Ile32Val",
"transcript": "NM_001407120.1",
"protein_id": "NP_001394049.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 132,
"cds_start": 94,
"cds_end": null,
"cds_length": 399,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.94A>G",
"hgvs_p": "p.Ile32Val",
"transcript": "ENST00000714064.1",
"protein_id": "ENSP00000519355.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 132,
"cds_start": 94,
"cds_end": null,
"cds_length": 399,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.94A>G",
"hgvs_p": "p.Ile32Val",
"transcript": "ENST00000714065.1",
"protein_id": "ENSP00000519356.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 132,
"cds_start": 94,
"cds_end": null,
"cds_length": 399,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.94A>G",
"hgvs_p": "p.Ile32Val",
"transcript": "ENST00000714066.1",
"protein_id": "ENSP00000519357.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 132,
"cds_start": 94,
"cds_end": null,
"cds_length": 399,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Ile50Val",
"transcript": "NM_001407121.1",
"protein_id": "NP_001394050.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 131,
"cds_start": 148,
"cds_end": null,
"cds_length": 396,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ile16Val",
"transcript": "NM_001035513.3",
"protein_id": "NP_001030590.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 116,
"cds_start": 46,
"cds_end": null,
"cds_length": 351,
"cdna_start": 71,
"cdna_end": null,
"cdna_length": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Ile35Val",
"transcript": "NM_001278172.3",
"protein_id": "NP_001265101.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 116,
"cds_start": 103,
"cds_end": null,
"cds_length": 351,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.94A>G",
"hgvs_p": "p.Ile32Val",
"transcript": "ENST00000515731.2",
"protein_id": "ENSP00000519353.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 113,
"cds_start": 94,
"cds_end": null,
"cds_length": 342,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "n.*206A>G",
"hgvs_p": null,
"transcript": "ENST00000470743.5",
"protein_id": "ENSP00000482902.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
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"hgvs_c": "n.*28A>G",
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"transcript": "ENST00000504963.5",
"protein_id": "ENSP00000423929.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 7,
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"gene_symbol": "SDHC",
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"hgvs_c": "n.257A>G",
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"transcript": "NR_103459.3",
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "n.*206A>G",
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"transcript": "ENST00000470743.5",
"protein_id": "ENSP00000482902.2",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 7,
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"intron_rank_end": null,
"gene_symbol": "SDHC",
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"hgvs_c": "n.*28A>G",
"hgvs_p": null,
"transcript": "ENST00000504963.5",
"protein_id": "ENSP00000423929.1",
"transcript_support_level": 4,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"dbsnp": "rs753561812",
"frequency_reference_population": 0.0000047889903,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478899,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2973739504814148,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.335,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1345,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.767,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367975.7",
"gene_symbol": "SDHC",
"hgnc_id": 10682,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Ile69Val"
}
],
"clinvar_disease": "Gastrointestinal stromal tumor,Hereditary cancer-predisposing syndrome,Hereditary pheochromocytoma-paraganglioma,Pheochromocytoma/paraganglioma syndrome 3",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}