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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: 22-46793809-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=46793809&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 46793809,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014346.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "NM_014346.5",
"protein_id": "NP_055161.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 517,
"cds_start": 428,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": "ENST00000337137.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "ENST00000337137.9",
"protein_id": "ENSP00000336724.4",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 517,
"cds_start": 428,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": "NM_014346.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ser113Leu",
"transcript": "ENST00000380995.5",
"protein_id": "ENSP00000370383.2",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 487,
"cds_start": 338,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Ser124Leu",
"transcript": "ENST00000355704.7",
"protein_id": "ENSP00000347932.3",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 439,
"cds_start": 371,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ser113Leu",
"transcript": "NM_001284304.2",
"protein_id": "NP_001271233.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 487,
"cds_start": 338,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 3895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ser96Leu",
"transcript": "NM_001284305.2",
"protein_id": "NP_001271234.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 470,
"cds_start": 287,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ser96Leu",
"transcript": "ENST00000406733.1",
"protein_id": "ENSP00000385634.1",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 470,
"cds_start": 287,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "NM_001410803.1",
"protein_id": "NP_001397732.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 458,
"cds_start": 428,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "ENST00000407381.7",
"protein_id": "ENSP00000384036.3",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 458,
"cds_start": 428,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Ser124Leu",
"transcript": "NM_001284303.2",
"protein_id": "NP_001271232.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 439,
"cds_start": 371,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_047441306.1",
"protein_id": "XP_047297262.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 562,
"cds_start": 428,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 6457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_017028742.3",
"protein_id": "XP_016884231.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 549,
"cds_start": 428,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_017028743.3",
"protein_id": "XP_016884232.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 530,
"cds_start": 428,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 6361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_047441307.1",
"protein_id": "XP_047297263.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 433,
"cds_start": 428,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_011530100.4",
"protein_id": "XP_011528402.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 401,
"cds_start": 428,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_017028746.3",
"protein_id": "XP_016884235.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 388,
"cds_start": 428,
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"cdna_start": 565,
"cdna_end": null,
"cdna_length": 11788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_011530101.4",
"protein_id": "XP_011528403.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 376,
"cds_start": 428,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_017028747.3",
"protein_id": "XP_016884236.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 364,
"cds_start": 428,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_011530102.4",
"protein_id": "XP_011528404.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 362,
"cds_start": 428,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_047441308.1",
"protein_id": "XP_047297264.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 362,
"cds_start": 428,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 565,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu",
"transcript": "XM_047441309.1",
"protein_id": "XP_047297265.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 303,
"cds_start": 428,
"cds_end": null,
"cds_length": 912,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1095,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "n.428C>T",
"hgvs_p": null,
"transcript": "ENST00000394449.6",
"protein_id": "ENSP00000377964.2",
"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": 2048,
"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": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "n.287C>T",
"hgvs_p": null,
"transcript": "ENST00000441162.5",
"protein_id": "ENSP00000406214.1",
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"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "TBC1D22A",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
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"hgvs_c": "n.565C>T",
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"transcript": "XR_007067970.1",
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"cdna_start": null,
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"cdna_length": 15055,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
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"transcript": "XR_007067971.1",
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2824,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
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"hgvs_c": "n.*411C>T",
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"transcript": "ENST00000441936.5",
"protein_id": "ENSP00000398828.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "n.*34C>T",
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"transcript": "ENST00000472791.5",
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
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"hgvs_c": "n.*138C>T",
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"transcript": "ENST00000486163.5",
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"aa_length": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"hgvs_c": "n.*193C>T",
"hgvs_p": null,
"transcript": "ENST00000496139.5",
"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": 530,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBC1D22A",
"gene_hgnc_id": 1309,
"dbsnp": "rs563554988",
"frequency_reference_population": 0.000021325599,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000173369,
"gnomad_genomes_af": 0.0000590877,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35006800293922424,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.422,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.344,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014346.5",
"gene_symbol": "TBC1D22A",
"hgnc_id": 1309,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.428C>T",
"hgvs_p": "p.Ser143Leu"
}
],
"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
}