← Back to variant description
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: 12-66455422-GTCTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=66455422&ref=GTCTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 66455422,
"ref": "GTCTT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000359742.9",
"consequences": [
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1337_1340delAAGA",
"hgvs_p": "p.Lys446fs",
"transcript": "NM_001366722.1",
"protein_id": "NP_001353651.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 1128,
"cds_start": 1337,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "ENST00000359742.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1337_1340delAAGA",
"hgvs_p": "p.Lys446fs",
"transcript": "ENST00000359742.9",
"protein_id": "ENSP00000352780.4",
"transcript_support_level": 5,
"aa_start": 446,
"aa_end": null,
"aa_length": 1128,
"cds_start": 1337,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "NM_001366722.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1181_1184delAAGA",
"hgvs_p": "p.Lys394fs",
"transcript": "ENST00000398016.7",
"protein_id": "ENSP00000381098.3",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 1076,
"cds_start": 1181,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 4888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.874+7498_874+7501delAAGA",
"hgvs_p": null,
"transcript": "ENST00000536215.5",
"protein_id": "ENSP00000446011.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": -4,
"cds_end": null,
"cds_length": 2362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1415_1418delAAGA",
"hgvs_p": "p.Lys472fs",
"transcript": "NM_001379345.1",
"protein_id": "NP_001366274.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1415,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1406_1409delAAGA",
"hgvs_p": "p.Lys469fs",
"transcript": "ENST00000696989.1",
"protein_id": "ENSP00000513025.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1406,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1340_1343delAAGA",
"hgvs_p": "p.Lys447fs",
"transcript": "NM_001439322.1",
"protein_id": "NP_001426251.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1340,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1337_1340delAAGA",
"hgvs_p": "p.Lys446fs",
"transcript": "NM_001379346.1",
"protein_id": "NP_001366275.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1337,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1337_1340delAAGA",
"hgvs_p": "p.Lys446fs",
"transcript": "NM_001439323.1",
"protein_id": "NP_001426252.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1337,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1259_1262delAAGA",
"hgvs_p": "p.Lys420fs",
"transcript": "NM_001366724.1",
"protein_id": "NP_001353653.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1259,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 4981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1256_1259delAAGA",
"hgvs_p": "p.Lys419fs",
"transcript": "NM_001366723.1",
"protein_id": "NP_001353652.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1101,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1259_1262delAAGA",
"hgvs_p": "p.Lys420fs",
"transcript": "NM_001379347.1",
"protein_id": "NP_001366276.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1087,
"cds_start": 1259,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 4936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1256_1259delAAGA",
"hgvs_p": "p.Lys419fs",
"transcript": "NM_001379348.1",
"protein_id": "NP_001366277.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 4933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1184_1187delAAGA",
"hgvs_p": "p.Lys395fs",
"transcript": "NM_001379349.1",
"protein_id": "NP_001366278.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 1077,
"cds_start": 1184,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1181_1184delAAGA",
"hgvs_p": "p.Lys394fs",
"transcript": "NM_021150.4",
"protein_id": "NP_066973.2",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1076,
"cds_start": 1181,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1181_1184delAAGA",
"hgvs_p": "p.Lys394fs",
"transcript": "NM_001178074.2",
"protein_id": "NP_001171545.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1181,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1181_1184delAAGA",
"hgvs_p": "p.Lys394fs",
"transcript": "NM_001379351.1",
"protein_id": "NP_001366280.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1181,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1181_1184delAAGA",
"hgvs_p": "p.Lys394fs",
"transcript": "ENST00000538211.5",
"protein_id": "ENSP00000446047.1",
"transcript_support_level": 5,
"aa_start": 394,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1181,
"cds_end": null,
"cds_length": 3169,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.779_782delAAGA",
"hgvs_p": "p.Lys260fs",
"transcript": "ENST00000538164.5",
"protein_id": "ENSP00000439053.1",
"transcript_support_level": 5,
"aa_start": 260,
"aa_end": null,
"aa_length": 927,
"cds_start": 779,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1013_1016delAAGA",
"hgvs_p": "p.Lys338fs",
"transcript": "ENST00000540433.5",
"protein_id": "ENSP00000446024.1",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 875,
"cds_start": 1013,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.638_641delAAGA",
"hgvs_p": "p.Lys213fs",
"transcript": "ENST00000543172.5",
"protein_id": "ENSP00000443860.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 281,
"cds_start": 638,
"cds_end": null,
"cds_length": 847,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1562_1565delAAGA",
"hgvs_p": "p.Lys521fs",
"transcript": "XM_017019098.2",
"protein_id": "XP_016874587.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1562,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1559_1562delAAGA",
"hgvs_p": "p.Lys520fs",
"transcript": "XM_047428616.1",
"protein_id": "XP_047284572.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 1187,
"cds_start": 1559,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 5437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1415_1418delAAGA",
"hgvs_p": "p.Lys472fs",
"transcript": "XM_047428617.1",
"protein_id": "XP_047284573.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1415,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1406_1409delAAGA",
"hgvs_p": "p.Lys469fs",
"transcript": "XM_017019100.2",
"protein_id": "XP_016874589.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1406,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 5283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1403_1406delAAGA",
"hgvs_p": "p.Lys468fs",
"transcript": "XM_047428618.1",
"protein_id": "XP_047284574.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1403,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 5280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1340_1343delAAGA",
"hgvs_p": "p.Lys447fs",
"transcript": "XM_005268754.5",
"protein_id": "XP_005268811.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1340,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1334_1337delAAGA",
"hgvs_p": "p.Lys445fs",
"transcript": "XM_047428621.1",
"protein_id": "XP_047284577.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 1112,
"cds_start": 1334,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 5099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1259_1262delAAGA",
"hgvs_p": "p.Lys420fs",
"transcript": "XM_005268757.5",
"protein_id": "XP_005268814.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1259,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1256_1259delAAGA",
"hgvs_p": "p.Lys419fs",
"transcript": "XM_047428622.1",
"protein_id": "XP_047284578.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 5080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "n.*210_*213delAAGA",
"hgvs_p": null,
"transcript": "ENST00000535002.1",
"protein_id": "ENSP00000440918.1",
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "n.*210_*213delAAGA",
"hgvs_p": null,
"transcript": "ENST00000535002.1",
"protein_id": "ENSP00000440918.1",
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.337+60193_337+60196delAAGA",
"hgvs_p": null,
"transcript": "ENST00000540854.5",
"protein_id": "ENSP00000443006.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"dbsnp": "rs397514486",
"frequency_reference_population": 6.8407127e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84071e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": "ENST00000359742.9",
"gene_symbol": "GRIP1",
"hgnc_id": 18708,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1337_1340delAAGA",
"hgvs_p": "p.Lys446fs"
}
],
"clinvar_disease": "Fraser syndrome 3",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Fraser syndrome 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}