← 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: 17-46018674-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46018674&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAPT",
"hgnc_id": 6893,
"hgvs_c": "c.2230_2231delTCinsCT",
"hgvs_p": "p.Ser744Leu",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001377265.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 833,
"aa_ref": "S",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6815,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2230,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377265.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2230_2231delTCinsCT",
"hgvs_p": "p.Ser744Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262410.10",
"protein_coding": true,
"protein_id": "NP_001364194.1",
"strand": true,
"transcript": "NM_001377265.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 833,
"aa_ref": "S",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6815,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2230,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262410.10",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2230_2231delTCinsCT",
"hgvs_p": "p.Ser744Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001377265.1",
"protein_coding": true,
"protein_id": "ENSP00000262410.6",
"strand": true,
"transcript": "ENST00000262410.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 736,
"aa_ref": "S",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1939,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000344290.10",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1939_1940delTCinsCT",
"hgvs_p": "p.Ser647Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340820.6",
"strand": true,
"transcript": "ENST00000344290.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 441,
"aa_ref": "S",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5639,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1054,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000351559.10",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1054_1055delTCinsCT",
"hgvs_p": "p.Ser352Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303214.7",
"strand": true,
"transcript": "ENST00000351559.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1239,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000420682.7",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.967_968delTCinsCT",
"hgvs_p": "p.Ser323Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413056.2",
"strand": true,
"transcript": "ENST00000420682.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 383,
"aa_ref": "S",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5345,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1152,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000446361.7",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.880_881delTCinsCT",
"hgvs_p": "p.Ser294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408975.3",
"strand": true,
"transcript": "ENST00000446361.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 352,
"aa_ref": "S",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1107,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1059,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000334239.12",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.787_788delTCinsCT",
"hgvs_p": "p.Ser263Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334886.8",
"strand": true,
"transcript": "ENST00000334239.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 862,
"aa_ref": "S",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": 2489,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972115.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2317_2318delTCinsCT",
"hgvs_p": "p.Ser773Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642174.1",
"strand": true,
"transcript": "ENST00000972115.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 833,
"aa_ref": "S",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4740,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2230,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884784.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2230_2231delTCinsCT",
"hgvs_p": "p.Ser744Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554843.1",
"strand": true,
"transcript": "ENST00000884784.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 802,
"aa_ref": "S",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4519,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2137,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884782.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2137_2138delTCinsCT",
"hgvs_p": "p.Ser713Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554841.1",
"strand": true,
"transcript": "ENST00000884782.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 796,
"aa_ref": "S",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4611,
"cdna_start": 2404,
"cds_end": null,
"cds_length": 2391,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884778.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2119_2120delTCinsCT",
"hgvs_p": "p.Ser707Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554837.1",
"strand": true,
"transcript": "ENST00000884778.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 776,
"aa_ref": "S",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6644,
"cdna_start": 2209,
"cds_end": null,
"cds_length": 2331,
"cds_start": 2059,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001123066.4",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2059_2060delTCinsCT",
"hgvs_p": "p.Ser687Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116538.2",
"strand": true,
"transcript": "NM_001123066.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 776,
"aa_ref": "S",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 2059,
"cds_end": null,
"cds_length": 2331,
"cds_start": 2059,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000415613.6",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2059_2060delTCinsCT",
"hgvs_p": "p.Ser687Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410838.2",
"strand": true,
"transcript": "ENST00000415613.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 767,
"aa_ref": "S",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4416,
"cdna_start": 2209,
"cds_end": null,
"cds_length": 2304,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884781.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2032_2033delTCinsCT",
"hgvs_p": "p.Ser678Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554840.1",
"strand": true,
"transcript": "ENST00000884781.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 767,
"aa_ref": "S",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2304,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972116.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2032_2033delTCinsCT",
"hgvs_p": "p.Ser678Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642175.1",
"strand": true,
"transcript": "ENST00000972116.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 765,
"aa_ref": "S",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 2298,
"cds_start": 2026,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884779.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2026_2027delTCinsCT",
"hgvs_p": "p.Ser676Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554838.1",
"strand": true,
"transcript": "ENST00000884779.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 758,
"aa_ref": "S",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6590,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016835.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2005_2006delTCinsCT",
"hgvs_p": "p.Ser669Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_058519.3",
"strand": true,
"transcript": "NM_016835.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 758,
"aa_ref": "S",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 2005,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000571987.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2005_2006delTCinsCT",
"hgvs_p": "p.Ser669Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458742.1",
"strand": true,
"transcript": "ENST00000571987.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 738,
"aa_ref": "S",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4283,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972112.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1945_1946delTCinsCT",
"hgvs_p": "p.Ser649Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642171.1",
"strand": true,
"transcript": "ENST00000972112.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 736,
"aa_ref": "S",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6524,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1939,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377266.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1939_1940delTCinsCT",
"hgvs_p": "p.Ser647Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364195.1",
"strand": true,
"transcript": "NM_001377266.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 707,
"aa_ref": "S",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884787.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1852_1853delTCinsCT",
"hgvs_p": "p.Ser618Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554846.1",
"strand": true,
"transcript": "ENST00000884787.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 478,
"aa_ref": "S",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972111.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1165_1166delTCinsCT",
"hgvs_p": "p.Ser389Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642170.1",
"strand": true,
"transcript": "ENST00000972111.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 476,
"aa_ref": "S",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3704,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884777.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1159_1160delTCinsCT",
"hgvs_p": "p.Ser387Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554836.1",
"strand": true,
"transcript": "ENST00000884777.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 456,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972118.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1099_1100delTCinsCT",
"hgvs_p": "p.Ser367Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642177.1",
"strand": true,
"transcript": "ENST00000972118.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 453,
"aa_ref": "S",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972113.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1090_1091delTCinsCT",
"hgvs_p": "p.Ser364Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642172.1",
"strand": true,
"transcript": "ENST00000972113.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 447,
"aa_ref": "S",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884783.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1072_1073delTCinsCT",
"hgvs_p": "p.Ser358Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554842.1",
"strand": true,
"transcript": "ENST00000884783.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 441,
"aa_ref": "S",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5639,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1054,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005910.6",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1054_1055delTCinsCT",
"hgvs_p": "p.Ser352Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005901.2",
"strand": true,
"transcript": "NM_005910.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 441,
"aa_ref": "S",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1326,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1054,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000574436.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1054_1055delTCinsCT",
"hgvs_p": "p.Ser352Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460965.1",
"strand": true,
"transcript": "ENST00000574436.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 424,
"aa_ref": "S",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680674.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1003_1004delTCinsCT",
"hgvs_p": "p.Ser335Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505478.1",
"strand": true,
"transcript": "ENST00000680674.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 422,
"aa_ref": "S",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3255,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1269,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884785.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.997_998delTCinsCT",
"hgvs_p": "p.Ser333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554844.1",
"strand": true,
"transcript": "ENST00000884785.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5552,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1239,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001123067.4",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.967_968delTCinsCT",
"hgvs_p": "p.Ser323Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116539.1",
"strand": true,
"transcript": "NM_001123067.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1239,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884788.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.967_968delTCinsCT",
"hgvs_p": "p.Ser323Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554847.1",
"strand": true,
"transcript": "ENST00000884788.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1239,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972120.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.967_968delTCinsCT",
"hgvs_p": "p.Ser323Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642179.1",
"strand": true,
"transcript": "ENST00000972120.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5546,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1233,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001203252.2",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001190181.1",
"strand": true,
"transcript": "NM_001203252.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1233,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1233,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431008.7",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389250.3",
"strand": true,
"transcript": "ENST00000431008.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 390,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1173,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972114.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.901_902delTCinsCT",
"hgvs_p": "p.Ser301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642173.1",
"strand": true,
"transcript": "ENST00000972114.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 383,
"aa_ref": "S",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5465,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1152,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016834.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.880_881delTCinsCT",
"hgvs_p": "p.Ser294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_058518.1",
"strand": true,
"transcript": "NM_016834.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 383,
"aa_ref": "S",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1152,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884786.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.880_881delTCinsCT",
"hgvs_p": "p.Ser294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554845.1",
"strand": true,
"transcript": "ENST00000884786.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 381,
"aa_ref": "S",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1146,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001203251.2",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.874_875delTCinsCT",
"hgvs_p": "p.Ser292Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001190180.1",
"strand": true,
"transcript": "NM_001203251.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 381,
"aa_ref": "S",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1353,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1146,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535772.6",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.874_875delTCinsCT",
"hgvs_p": "p.Ser292Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443028.2",
"strand": true,
"transcript": "ENST00000535772.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 381,
"aa_ref": "S",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1146,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972119.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.874_875delTCinsCT",
"hgvs_p": "p.Ser292Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642178.1",
"strand": true,
"transcript": "ENST00000972119.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 352,
"aa_ref": "S",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5525,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1059,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377268.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.787_788delTCinsCT",
"hgvs_p": "p.Ser263Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364197.1",
"strand": true,
"transcript": "NM_001377268.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 352,
"aa_ref": "S",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5372,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1059,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016841.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.787_788delTCinsCT",
"hgvs_p": "p.Ser263Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_058525.1",
"strand": true,
"transcript": "NM_016841.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 300,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1285,
"cdna_start": 772,
"cds_end": null,
"cds_length": 903,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000972117.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.631_632delTCinsCT",
"hgvs_p": "p.Ser211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642176.1",
"strand": true,
"transcript": "ENST00000972117.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 153,
"aa_ref": "S",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 373,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884780.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.190_191delTCinsCT",
"hgvs_p": "p.Ser64Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554839.1",
"strand": true,
"transcript": "ENST00000884780.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 862,
"aa_ref": "S",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6902,
"cdna_start": 2467,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257362.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2317_2318delTCinsCT",
"hgvs_p": "p.Ser773Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257419.1",
"strand": true,
"transcript": "XM_005257362.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 831,
"aa_ref": "S",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6809,
"cdna_start": 2374,
"cds_end": null,
"cds_length": 2496,
"cds_start": 2224,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257365.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2224_2225delTCinsCT",
"hgvs_p": "p.Ser742Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257422.1",
"strand": true,
"transcript": "XM_005257365.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 804,
"aa_ref": "S",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6728,
"cdna_start": 2293,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2143,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257366.4",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2143_2144delTCinsCT",
"hgvs_p": "p.Ser715Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257423.1",
"strand": true,
"transcript": "XM_005257366.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 802,
"aa_ref": "S",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6722,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2137,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436074.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2137_2138delTCinsCT",
"hgvs_p": "p.Ser713Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292030.1",
"strand": true,
"transcript": "XM_047436074.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 796,
"aa_ref": "S",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6704,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 2391,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257367.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2119_2120delTCinsCT",
"hgvs_p": "p.Ser707Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257424.1",
"strand": true,
"transcript": "XM_005257367.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 773,
"aa_ref": "S",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6635,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 2322,
"cds_start": 2050,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436075.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2050_2051delTCinsCT",
"hgvs_p": "p.Ser684Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292031.1",
"strand": true,
"transcript": "XM_047436075.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 767,
"aa_ref": "S",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6617,
"cdna_start": 2182,
"cds_end": null,
"cds_length": 2304,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436076.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2032_2033delTCinsCT",
"hgvs_p": "p.Ser678Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292032.1",
"strand": true,
"transcript": "XM_047436076.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 765,
"aa_ref": "S",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6611,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2298,
"cds_start": 2026,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257368.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.2026_2027delTCinsCT",
"hgvs_p": "p.Ser676Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257425.1",
"strand": true,
"transcript": "XM_005257368.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 738,
"aa_ref": "S",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6530,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1945,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436077.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1945_1946delTCinsCT",
"hgvs_p": "p.Ser649Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292033.1",
"strand": true,
"transcript": "XM_047436077.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 707,
"aa_ref": "S",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6437,
"cdna_start": 2002,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436078.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1852_1853delTCinsCT",
"hgvs_p": "p.Ser618Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292034.1",
"strand": true,
"transcript": "XM_047436078.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 507,
"aa_ref": "S",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5837,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257369.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1252_1253delTCinsCT",
"hgvs_p": "p.Ser418Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257426.1",
"strand": true,
"transcript": "XM_005257369.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 478,
"aa_ref": "S",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5750,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257370.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1165_1166delTCinsCT",
"hgvs_p": "p.Ser389Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257427.1",
"strand": true,
"transcript": "XM_005257370.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 476,
"aa_ref": "S",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5744,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436079.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1159_1160delTCinsCT",
"hgvs_p": "p.Ser387Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292035.1",
"strand": true,
"transcript": "XM_047436079.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 449,
"aa_ref": "S",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005257371.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1078_1079delTCinsCT",
"hgvs_p": "p.Ser360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257428.1",
"strand": true,
"transcript": "XM_005257371.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 447,
"aa_ref": "S",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436080.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.1072_1073delTCinsCT",
"hgvs_p": "p.Ser358Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292036.1",
"strand": true,
"transcript": "XM_047436080.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "S",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5570,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1257,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436081.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.985_986delTCinsCT",
"hgvs_p": "p.Ser329Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292037.1",
"strand": true,
"transcript": "XM_047436081.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377267.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "c.771+4396_771+4397delTCinsCT",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364196.1",
"strand": true,
"transcript": "NM_001377267.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000570299.5",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.833_834delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000570299.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000576518.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.6246_6247delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000576518.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000680542.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.967_968delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505258.1",
"strand": true,
"transcript": "ENST00000680542.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000703922.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.967_968delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000515557.1",
"strand": true,
"transcript": "ENST00000703922.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000703923.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.880_881delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000515558.1",
"strand": true,
"transcript": "ENST00000703923.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2971,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000703924.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.967_968delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000515559.1",
"strand": true,
"transcript": "ENST00000703924.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000703978.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.1054_1055delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000515600.1",
"strand": true,
"transcript": "ENST00000703978.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 853,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000703979.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.825_826delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000703979.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1080,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000703980.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.280_281delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000703980.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 994,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000703981.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.238_239delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000703981.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000703982.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.472_473delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000703982.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5320,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_165166.1",
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"hgvs_c": "n.885_886delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_165166.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6893,
"gene_symbol": "MAPT",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.902,
"pos": 46018674,
"ref": "TC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001377265.1"
}
]
}