← 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: 18-47059584-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=47059584&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 47059584,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000683218.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.479G>C",
"hgvs_p": "p.Ser160Thr",
"transcript": "NM_001387690.1",
"protein_id": "NP_001374619.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 538,
"cds_start": 479,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": "ENST00000683218.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.479G>C",
"hgvs_p": "p.Ser160Thr",
"transcript": "ENST00000683218.1",
"protein_id": "ENSP00000508137.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 538,
"cds_start": 479,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": "NM_001387690.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.263G>C",
"hgvs_p": "p.Ser88Thr",
"transcript": "ENST00000245121.10",
"protein_id": "ENSP00000245121.4",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 466,
"cds_start": 263,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "ENST00000591522.2",
"protein_id": "ENSP00000467488.2",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 341,
"cds_start": 146,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.52-15693G>C",
"hgvs_p": null,
"transcript": "ENST00000592005.5",
"protein_id": "ENSP00000467610.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Ser186Thr",
"transcript": "NM_001353899.1",
"protein_id": "NP_001340828.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 564,
"cds_start": 557,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Ser185Thr",
"transcript": "NM_001353900.1",
"protein_id": "NP_001340829.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 563,
"cds_start": 554,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.479G>C",
"hgvs_p": "p.Ser160Thr",
"transcript": "NM_001367621.1",
"protein_id": "NP_001354550.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 538,
"cds_start": 479,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.479G>C",
"hgvs_p": "p.Ser160Thr",
"transcript": "ENST00000356157.12",
"protein_id": "ENSP00000348478.6",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 538,
"cds_start": 479,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.479G>C",
"hgvs_p": "p.Ser160Thr",
"transcript": "NM_001353901.1",
"protein_id": "NP_001340830.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 485,
"cds_start": 479,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Ser186Thr",
"transcript": "NM_001353902.1",
"protein_id": "NP_001340831.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 478,
"cds_start": 557,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.263G>C",
"hgvs_p": "p.Ser88Thr",
"transcript": "NM_031303.3",
"protein_id": "NP_112593.2",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 466,
"cds_start": 263,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "NM_001353903.1",
"protein_id": "NP_001340832.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 427,
"cds_start": 146,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "ENST00000588433.6",
"protein_id": "ENSP00000464779.2",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 427,
"cds_start": 146,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "NM_001353904.1",
"protein_id": "NP_001340833.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 394,
"cds_start": 146,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "NM_001353905.1",
"protein_id": "NP_001340834.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 374,
"cds_start": 146,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "NM_001353906.1",
"protein_id": "NP_001340835.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 374,
"cds_start": 146,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "NM_001353907.1",
"protein_id": "NP_001340836.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 351,
"cds_start": 146,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "NM_001353908.1",
"protein_id": "NP_001340837.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 341,
"cds_start": 146,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Ser27Thr",
"transcript": "ENST00000687291.1",
"protein_id": "ENSP00000509033.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 329,
"cds_start": 80,
"cds_end": null,
"cds_length": 990,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "NM_001353909.1",
"protein_id": "NP_001340838.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 280,
"cds_start": 146,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.419G>C",
"hgvs_p": "p.Ser140Thr",
"transcript": "ENST00000585469.5",
"protein_id": "ENSP00000466674.1",
"transcript_support_level": 5,
"aa_start": 140,
"aa_end": null,
"aa_length": 221,
"cds_start": 419,
"cds_end": null,
"cds_length": 666,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Ser186Thr",
"transcript": "XM_011526219.4",
"protein_id": "XP_011524521.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 519,
"cds_start": 557,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Ser185Thr",
"transcript": "XM_047437877.1",
"protein_id": "XP_047293833.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 518,
"cds_start": 554,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Ser186Thr",
"transcript": "XM_011526220.3",
"protein_id": "XP_011524522.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 511,
"cds_start": 557,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Ser185Thr",
"transcript": "XM_047437878.1",
"protein_id": "XP_047293834.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 510,
"cds_start": 554,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Ser186Thr",
"transcript": "XM_047437879.1",
"protein_id": "XP_047293835.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 488,
"cds_start": 557,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Ser185Thr",
"transcript": "XM_047437880.1",
"protein_id": "XP_047293836.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 487,
"cds_start": 554,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Ser186Thr",
"transcript": "XM_011526221.4",
"protein_id": "XP_011524523.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 468,
"cds_start": 557,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 5118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Ser186Thr",
"transcript": "XM_011526223.4",
"protein_id": "XP_011524525.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 450,
"cds_start": 557,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "XM_005258361.4",
"protein_id": "XP_005258418.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 427,
"cds_start": 146,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.146G>C",
"hgvs_p": "p.Ser49Thr",
"transcript": "XM_017026031.2",
"protein_id": "XP_016881520.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 427,
"cds_start": 146,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2635,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.646G>C",
"hgvs_p": null,
"transcript": "ENST00000685144.1",
"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": 1940,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.1306G>C",
"hgvs_p": null,
"transcript": "ENST00000685252.1",
"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": 2709,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.*45G>C",
"hgvs_p": null,
"transcript": "ENST00000685570.1",
"protein_id": "ENSP00000509944.1",
"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": 2325,
"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": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.*501G>C",
"hgvs_p": null,
"transcript": "ENST00000685696.1",
"protein_id": "ENSP00000510423.1",
"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": 2417,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.476G>C",
"hgvs_p": null,
"transcript": "ENST00000686215.1",
"protein_id": "ENSP00000510745.1",
"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": 4964,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.2156G>C",
"hgvs_p": null,
"transcript": "ENST00000687617.1",
"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": 3549,
"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": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.*155G>C",
"hgvs_p": null,
"transcript": "ENST00000688194.1",
"protein_id": "ENSP00000510625.1",
"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": 2409,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.*344G>C",
"hgvs_p": null,
"transcript": "ENST00000688563.1",
"protein_id": "ENSP00000508482.1",
"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": 2605,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.948G>C",
"hgvs_p": null,
"transcript": "ENST00000688659.1",
"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": 1757,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.*45G>C",
"hgvs_p": null,
"transcript": "ENST00000690453.1",
"protein_id": "ENSP00000509979.1",
"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": 2483,
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.1047G>C",
"hgvs_p": null,
"transcript": "NR_148563.1",
"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": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.*45G>C",
"hgvs_p": null,
"transcript": "ENST00000685570.1",
"protein_id": "ENSP00000509944.1",
"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": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.*501G>C",
"hgvs_p": null,
"transcript": "ENST00000685696.1",
"protein_id": "ENSP00000510423.1",
"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": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.*155G>C",
"hgvs_p": null,
"transcript": "ENST00000688194.1",
"protein_id": "ENSP00000510625.1",
"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": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.*344G>C",
"hgvs_p": null,
"transcript": "ENST00000688563.1",
"protein_id": "ENSP00000508482.1",
"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": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.*45G>C",
"hgvs_p": null,
"transcript": "ENST00000690453.1",
"protein_id": "ENSP00000509979.1",
"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": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"dbsnp": "rs7233515",
"frequency_reference_population": 6.8473173e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84732e-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": 0.0983450710773468,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.0634,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.903,
"phylop100way_prediction": "Benign",
"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": 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": "ENST00000683218.1",
"gene_symbol": "KATNAL2",
"hgnc_id": 25387,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.479G>C",
"hgvs_p": "p.Ser160Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}