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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: 11-112086914-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=112086914&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 112086914,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003002.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu",
"transcript": "NM_003002.4",
"protein_id": "NP_002993.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 159,
"cds_start": 7,
"cds_end": null,
"cds_length": 480,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": "ENST00000375549.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu",
"transcript": "ENST00000375549.8",
"protein_id": "ENSP00000364699.3",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 159,
"cds_start": 7,
"cds_end": null,
"cds_length": 480,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": "NM_003002.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu",
"transcript": "ENST00000528048.5",
"protein_id": "ENSP00000436217.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 85,
"cds_start": 7,
"cds_end": null,
"cds_length": 258,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255292",
"gene_hgnc_id": null,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000532699.1",
"protein_id": "ENSP00000456434.1",
"transcript_support_level": 3,
"aa_start": null,
"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
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu",
"transcript": "NM_001276506.2",
"protein_id": "NP_001263435.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 143,
"cds_start": 7,
"cds_end": null,
"cds_length": 432,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu",
"transcript": "ENST00000526592.5",
"protein_id": "ENSP00000432005.1",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 143,
"cds_start": 7,
"cds_end": null,
"cds_length": 432,
"cdna_start": 16,
"cdna_end": null,
"cdna_length": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu",
"transcript": "ENST00000528182.5",
"protein_id": "ENSP00000435475.1",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 131,
"cds_start": 7,
"cds_end": null,
"cds_length": 396,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu",
"transcript": "NM_001276504.2",
"protein_id": "NP_001263433.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 120,
"cds_start": 7,
"cds_end": null,
"cds_length": 363,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu",
"transcript": "ENST00000525291.5",
"protein_id": "ENSP00000436669.1",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 120,
"cds_start": 7,
"cds_end": null,
"cds_length": 363,
"cdna_start": 16,
"cdna_end": null,
"cdna_length": 790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu",
"transcript": "ENST00000528021.6",
"protein_id": "ENSP00000432465.1",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 104,
"cds_start": 7,
"cds_end": null,
"cds_length": 315,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu",
"transcript": "NM_001276503.2",
"protein_id": "NP_001263432.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 85,
"cds_start": 7,
"cds_end": null,
"cds_length": 258,
"cdna_start": 42,
"cdna_end": null,
"cdna_length": 1194,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255292",
"gene_hgnc_id": null,
"hgvs_c": "n.12G>C",
"hgvs_p": null,
"transcript": "ENST00000525987.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 968,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000530923.6",
"protein_id": "ENSP00000432946.2",
"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,
"cdna_length": 762,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255292",
"gene_hgnc_id": null,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000531744.5",
"protein_id": "ENSP00000456957.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 566,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000534010.2",
"protein_id": "ENSP00000433202.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 664,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000640554.1",
"protein_id": "ENSP00000491141.1",
"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,
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"cdna_length": 727,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000714087.1",
"protein_id": "ENSP00000519378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1456,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000714090.1",
"protein_id": "ENSP00000519381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1280,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000714091.1",
"protein_id": "ENSP00000519382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1421,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"hgvs_c": "n.42G>C",
"hgvs_p": null,
"transcript": "NR_077060.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM8B",
"gene_hgnc_id": 11818,
"hgvs_c": "c.-191C>G",
"hgvs_p": null,
"transcript": "NM_012459.4",
"protein_id": "NP_036591.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 780,
"mane_select": "ENST00000504148.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM8B",
"gene_hgnc_id": 11818,
"hgvs_c": "c.-191C>G",
"hgvs_p": null,
"transcript": "ENST00000504148.3",
"protein_id": "ENSP00000422122.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 780,
"mane_select": "NM_012459.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM8B",
"gene_hgnc_id": 11818,
"hgvs_c": "c.-146C>G",
"hgvs_p": null,
"transcript": "ENST00000541231.1",
"protein_id": "ENSP00000438455.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
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"cdna_length": 805,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
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],
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"exon_count": 3,
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"protein_id": "ENSP00000421964.2",
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"cds_start": -4,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"upstream_gene_variant"
],
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "TIMM8B",
"gene_hgnc_id": 11818,
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"transcript": "ENST00000507614.1",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
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"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "TIMM8B",
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"hgvs_c": "n.-158C>G",
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"transcript": "NR_028383.2",
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"cds_start": -4,
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"cdna_length": 1084,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "TIMM8B",
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"hgvs_c": "n.-158C>G",
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"transcript": "NR_160400.1",
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"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1095,
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"feature": null
}
],
"gene_symbol": "SDHD",
"gene_hgnc_id": 10683,
"dbsnp": "rs1555186656",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1110566258430481,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.416,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1088,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.04,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003002.4",
"gene_symbol": "SDHD",
"hgnc_id": 10683,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Val3Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000532699.1",
"gene_symbol": "ENSG00000255292",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.7G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012459.4",
"gene_symbol": "TIMM8B",
"hgnc_id": 11818,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-191C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Carney-Stratakis syndrome,Cowden syndrome 3,Paragangliomas with sensorineural hearing loss,Pheochromocytoma",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Carney-Stratakis syndrome;Pheochromocytoma;Paragangliomas with sensorineural hearing loss;Cowden syndrome 3",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}