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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: 2-108788876-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=108788876&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 108788876,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000295124.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "NM_144978.3",
"protein_id": "NP_659415.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 665,
"cds_start": 176,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": "ENST00000295124.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "ENST00000295124.9",
"protein_id": "ENSP00000295124.4",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 665,
"cds_start": 176,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": "NM_144978.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "ENST00000412964.6",
"protein_id": "ENSP00000411800.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 577,
"cds_start": 176,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.194A>T",
"hgvs_p": "p.Asp65Val",
"transcript": "NM_001351544.2",
"protein_id": "NP_001338473.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 671,
"cds_start": 194,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.161A>T",
"hgvs_p": "p.Asp54Val",
"transcript": "NM_001351545.1",
"protein_id": "NP_001338474.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 660,
"cds_start": 161,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.50A>T",
"hgvs_p": "p.Asp17Val",
"transcript": "NM_001351548.1",
"protein_id": "NP_001338477.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 623,
"cds_start": 50,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "NM_001351549.2",
"protein_id": "NP_001338478.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 606,
"cds_start": 176,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "NM_001351551.2",
"protein_id": "NP_001338480.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 605,
"cds_start": 176,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.194A>T",
"hgvs_p": "p.Asp65Val",
"transcript": "NM_001351553.2",
"protein_id": "NP_001338482.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 583,
"cds_start": 194,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.194A>T",
"hgvs_p": "p.Asp65Val",
"transcript": "NM_001351554.2",
"protein_id": "NP_001338483.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 582,
"cds_start": 194,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "NM_001303105.2",
"protein_id": "NP_001290034.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 577,
"cds_start": 176,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "NM_001351555.2",
"protein_id": "NP_001338484.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 576,
"cds_start": 176,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.161A>T",
"hgvs_p": "p.Asp54Val",
"transcript": "NM_001351557.1",
"protein_id": "NP_001338486.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 545,
"cds_start": 161,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "NM_001351559.2",
"protein_id": "NP_001338488.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 434,
"cds_start": 176,
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"cdna_start": 228,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.161A>T",
"hgvs_p": "p.Asp54Val",
"transcript": "NM_001351561.1",
"protein_id": "NP_001338490.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 429,
"cds_start": 161,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.194A>T",
"hgvs_p": "p.Asp65Val",
"transcript": "XM_011510757.3",
"protein_id": "XP_011509059.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 670,
"cds_start": 194,
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"cdna_start": 246,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "XM_017003492.2",
"protein_id": "XP_016858981.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 664,
"cds_start": 176,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.161A>T",
"hgvs_p": "p.Asp54Val",
"transcript": "XM_047443540.1",
"protein_id": "XP_047299496.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 659,
"cds_start": 161,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.194A>T",
"hgvs_p": "p.Asp65Val",
"transcript": "XM_011510760.3",
"protein_id": "XP_011509062.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
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"cdna_start": 246,
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"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.194A>T",
"hgvs_p": "p.Asp65Val",
"transcript": "XM_047443541.1",
"protein_id": "XP_047299497.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
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"cds_start": 194,
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"cdna_start": 246,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "XM_047443542.1",
"protein_id": "XP_047299498.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 626,
"cds_start": 176,
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"cdna_start": 249,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val",
"transcript": "XM_047443543.1",
"protein_id": "XP_047299499.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 625,
"cds_start": 176,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.161A>T",
"hgvs_p": "p.Asp54Val",
"transcript": "XM_017003493.3",
"protein_id": "XP_016858982.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 621,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2598,
"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": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
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"hgvs_c": "n.246A>T",
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"transcript": "XR_007069664.1",
"protein_id": null,
"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,
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"cdna_length": 2067,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.249A>T",
"hgvs_p": null,
"transcript": "XR_007069665.1",
"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": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.-768A>T",
"hgvs_p": null,
"transcript": "NM_001303106.2",
"protein_id": "NP_001290035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.-773A>T",
"hgvs_p": null,
"transcript": "NM_001351565.2",
"protein_id": "NP_001338494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2264,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.8370+15830A>T",
"hgvs_p": null,
"transcript": "XM_047445367.1",
"protein_id": "XP_047301323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2807,
"cds_start": -4,
"cds_end": null,
"cds_length": 8424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"dbsnp": "rs147437740",
"frequency_reference_population": 0.00006319303,
"hom_count_reference_population": 0,
"allele_count_reference_population": 102,
"gnomad_exomes_af": 0.0000376257,
"gnomad_genomes_af": 0.000308529,
"gnomad_exomes_ac": 55,
"gnomad_genomes_ac": 47,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33832448720932007,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.631,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1883,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.954,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000295124.9",
"gene_symbol": "CCDC138",
"hgnc_id": 26531,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asp59Val"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "XM_047445367.1",
"gene_symbol": "RANBP2",
"hgnc_id": 9848,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8370+15830A>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}