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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: 3-100310461-CTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=100310461&ref=CTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 100310461,
"ref": "CTG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001199198.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1475_1476delTG",
"hgvs_p": "p.Val492fs",
"transcript": "NM_001199198.3",
"protein_id": "NP_001186127.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 699,
"cds_start": 1475,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394144.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199198.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1475_1476delTG",
"hgvs_p": "p.Val492fs",
"transcript": "ENST00000394144.9",
"protein_id": "ENSP00000377700.4",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 699,
"cds_start": 1475,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199198.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394144.9"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1475_1476delTG",
"hgvs_p": "p.Val492fs",
"transcript": "ENST00000344949.9",
"protein_id": "ENSP00000340693.5",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 684,
"cds_start": 1475,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344949.9"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1475_1476delTG",
"hgvs_p": "p.Val492fs",
"transcript": "ENST00000963832.1",
"protein_id": "ENSP00000633891.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 725,
"cds_start": 1475,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963832.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1466_1467delTG",
"hgvs_p": "p.Val489fs",
"transcript": "ENST00000860082.1",
"protein_id": "ENSP00000530141.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 696,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860082.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1439_1440delTG",
"hgvs_p": "p.Val480fs",
"transcript": "ENST00000963831.1",
"protein_id": "ENSP00000633890.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 687,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963831.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1475_1476delTG",
"hgvs_p": "p.Val492fs",
"transcript": "ENST00000860081.1",
"protein_id": "ENSP00000530140.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 686,
"cds_start": 1475,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860081.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1475_1476delTG",
"hgvs_p": "p.Val492fs",
"transcript": "NM_018309.5",
"protein_id": "NP_060779.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 684,
"cds_start": 1475,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018309.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1466_1467delTG",
"hgvs_p": "p.Val489fs",
"transcript": "ENST00000963834.1",
"protein_id": "ENSP00000633893.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 683,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963834.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1466_1467delTG",
"hgvs_p": "p.Val489fs",
"transcript": "ENST00000860083.1",
"protein_id": "ENSP00000530142.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 681,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860083.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1475_1476delTG",
"hgvs_p": "p.Val492fs",
"transcript": "ENST00000860078.1",
"protein_id": "ENSP00000530137.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 671,
"cds_start": 1475,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860078.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1304_1305delTG",
"hgvs_p": "p.Val435fs",
"transcript": "ENST00000860080.1",
"protein_id": "ENSP00000530139.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 642,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860080.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1304_1305delTG",
"hgvs_p": "p.Val435fs",
"transcript": "ENST00000963830.1",
"protein_id": "ENSP00000633889.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 642,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963830.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1304_1305delTG",
"hgvs_p": "p.Val435fs",
"transcript": "ENST00000860079.1",
"protein_id": "ENSP00000530138.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 627,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860079.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1259_1260delTG",
"hgvs_p": "p.Val420fs",
"transcript": "ENST00000935606.1",
"protein_id": "ENSP00000605665.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 612,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935606.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1226_1227delTG",
"hgvs_p": "p.Val409fs",
"transcript": "ENST00000935604.1",
"protein_id": "ENSP00000605663.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 601,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935604.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1199_1200delTG",
"hgvs_p": "p.Val400fs",
"transcript": "ENST00000963833.1",
"protein_id": "ENSP00000633892.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 592,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963833.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1064_1065delTG",
"hgvs_p": "p.Val355fs",
"transcript": "ENST00000475134.1",
"protein_id": "ENSP00000418059.1",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 562,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475134.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.1040_1041delTG",
"hgvs_p": "p.Val347fs",
"transcript": "ENST00000963829.1",
"protein_id": "ENSP00000633888.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 554,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963829.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.911_912delTG",
"hgvs_p": "p.Val304fs",
"transcript": "XM_047448562.1",
"protein_id": "XP_047304518.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 511,
"cds_start": 911,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448562.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.776_777delTG",
"hgvs_p": "p.Val259fs",
"transcript": "XM_017006841.3",
"protein_id": "XP_016862330.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 466,
"cds_start": 776,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006841.3"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "c.89-1395_89-1394delTG",
"hgvs_p": null,
"transcript": "ENST00000935605.1",
"protein_id": "ENSP00000605664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "n.1904_1905delTG",
"hgvs_p": null,
"transcript": "ENST00000486274.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486274.5"
},
{
"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": "TBC1D23",
"gene_hgnc_id": 25622,
"hgvs_c": "n.*41_*42delTG",
"hgvs_p": null,
"transcript": "ENST00000496167.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496167.1"
}
],
"gene_symbol": "TBC1D23",
"gene_hgnc_id": 25622,
"dbsnp": "rs1553730872",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.402,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001199198.3",
"gene_symbol": "TBC1D23",
"hgnc_id": 25622,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1475_1476delTG",
"hgvs_p": "p.Val492fs"
}
],
"clinvar_disease": " type 11,Pontocerebellar hypoplasia,Pontoneocerebellar hypoplasia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Pontocerebellar hypoplasia, type 11|Pontoneocerebellar hypoplasia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}