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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: 1-161328480-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161328480&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161328480,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001407115.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.162C>A",
"hgvs_p": "p.Pro54Pro",
"transcript": "NM_003001.5",
"protein_id": "NP_002992.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 169,
"cds_start": 162,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367975.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003001.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.162C>A",
"hgvs_p": "p.Pro54Pro",
"transcript": "ENST00000367975.7",
"protein_id": "ENSP00000356953.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 169,
"cds_start": 162,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003001.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367975.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.162C>A",
"hgvs_p": "p.Pro54Pro",
"transcript": "ENST00000342751.8",
"protein_id": "ENSP00000356952.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 150,
"cds_start": 162,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342751.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.77+4810C>A",
"hgvs_p": null,
"transcript": "ENST00000432287.6",
"protein_id": "ENSP00000390558.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432287.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.21-12114C>A",
"hgvs_p": null,
"transcript": "ENST00000392169.6",
"protein_id": "ENSP00000376009.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392169.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.77+4810C>A",
"hgvs_p": null,
"transcript": "ENST00000513009.5",
"protein_id": "ENSP00000423260.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513009.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.162C>A",
"hgvs_p": "p.Pro54Pro",
"transcript": "NM_001407115.1",
"protein_id": "NP_001394044.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 209,
"cds_start": 162,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407115.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.162C>A",
"hgvs_p": "p.Pro54Pro",
"transcript": "ENST00000893931.1",
"protein_id": "ENSP00000563990.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 204,
"cds_start": 162,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893931.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.192C>A",
"hgvs_p": "p.Pro64Pro",
"transcript": "ENST00000714063.1",
"protein_id": "ENSP00000519354.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 179,
"cds_start": 192,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714063.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.162C>A",
"hgvs_p": "p.Pro54Pro",
"transcript": "ENST00000893930.1",
"protein_id": "ENSP00000563989.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 178,
"cds_start": 162,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893930.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.162C>A",
"hgvs_p": "p.Pro54Pro",
"transcript": "NM_001035511.3",
"protein_id": "NP_001030588.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 150,
"cds_start": 162,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035511.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.105C>A",
"hgvs_p": "p.Pro35Pro",
"transcript": "NM_001407116.1",
"protein_id": "NP_001394045.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 150,
"cds_start": 105,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407116.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.105C>A",
"hgvs_p": "p.Pro35Pro",
"transcript": "NM_001407117.1",
"protein_id": "NP_001394046.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 148,
"cds_start": 105,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407117.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.51C>A",
"hgvs_p": "p.Pro17Pro",
"transcript": "NM_001407119.1",
"protein_id": "NP_001394048.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 132,
"cds_start": 51,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407119.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.51C>A",
"hgvs_p": "p.Pro17Pro",
"transcript": "NM_001407120.1",
"protein_id": "NP_001394049.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 132,
"cds_start": 51,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407120.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.51C>A",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000714064.1",
"protein_id": "ENSP00000519355.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 132,
"cds_start": 51,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714064.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.51C>A",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000714065.1",
"protein_id": "ENSP00000519356.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 132,
"cds_start": 51,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714065.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.51C>A",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000714066.1",
"protein_id": "ENSP00000519357.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 132,
"cds_start": 51,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714066.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.105C>A",
"hgvs_p": "p.Pro35Pro",
"transcript": "NM_001407121.1",
"protein_id": "NP_001394050.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 131,
"cds_start": 105,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407121.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.51C>A",
"hgvs_p": "p.Pro17Pro",
"transcript": "ENST00000515731.2",
"protein_id": "ENSP00000519353.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 113,
"cds_start": 51,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515731.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.139+23C>A",
"hgvs_p": null,
"transcript": "ENST00000893929.1",
"protein_id": "ENSP00000563988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"hgvs_c": "c.77+4810C>A",
"hgvs_p": null,
"transcript": "NM_001035512.3",
"protein_id": "NP_001030589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035512.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
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},
{
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],
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"feature": "NM_001035513.3"
},
{
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],
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"gene_symbol": "SDHC",
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"transcript": "NM_001278172.3",
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"feature": "NM_001278172.3"
},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
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"exon_count": 7,
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"gene_symbol": "SDHC",
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"hgvs_c": "n.*163C>A",
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"transcript": "ENST00000470743.5",
"protein_id": "ENSP00000482902.2",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470743.5"
},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 7,
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"transcript": "ENST00000504963.5",
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},
{
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"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 7,
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"gene_symbol": "SDHC",
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"hgvs_c": "n.187C>A",
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"transcript": "NR_103459.3",
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"biotype": "pseudogene",
"feature": "NR_103459.3"
},
{
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"3_prime_UTR_variant"
],
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"exon_count": 7,
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"gene_symbol": "SDHC",
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"hgvs_c": "n.*163C>A",
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"transcript": "ENST00000470743.5",
"protein_id": "ENSP00000482902.2",
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470743.5"
}
],
"gene_symbol": "SDHC",
"gene_hgnc_id": 10682,
"dbsnp": "rs374450282",
"frequency_reference_population": 0.00003544851,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000357214,
"gnomad_genomes_af": 0.000032839,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.642,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001407115.1",
"gene_symbol": "SDHC",
"hgnc_id": 10682,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.162C>A",
"hgvs_p": "p.Pro54Pro"
}
],
"clinvar_disease": "Gastrointestinal stromal tumor,Hereditary cancer-predisposing syndrome,Hereditary pheochromocytoma-paraganglioma,Pheochromocytoma/paraganglioma syndrome 3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma|Pheochromocytoma/paraganglioma syndrome 3",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}