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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-45983694-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45983694&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45983694,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001377265.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"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": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"transcript": "NM_001377265.1",
"protein_id": "NP_001364194.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 833,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262410.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377265.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"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": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"transcript": "ENST00000262410.10",
"protein_id": "ENSP00000262410.6",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 833,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001377265.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262410.10"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"transcript": "ENST00000344290.10",
"protein_id": "ENSP00000340820.6",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 736,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344290.10"
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.374-3346C>G",
"hgvs_p": null,
"transcript": "ENST00000351559.10",
"protein_id": "ENSP00000303214.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351559.10"
},
{
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.287-3346C>G",
"hgvs_p": null,
"transcript": "ENST00000420682.7",
"protein_id": "ENSP00000413056.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": null,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420682.7"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.200-3346C>G",
"hgvs_p": null,
"transcript": "ENST00000446361.7",
"protein_id": "ENSP00000408975.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": null,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446361.7"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.200-3346C>G",
"hgvs_p": null,
"transcript": "ENST00000334239.12",
"protein_id": "ENSP00000334886.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": null,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334239.12"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Ala401Gly",
"transcript": "ENST00000972115.1",
"protein_id": "ENSP00000642174.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 862,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972115.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"transcript": "ENST00000884784.1",
"protein_id": "ENSP00000554843.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 833,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884784.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"transcript": "ENST00000884782.1",
"protein_id": "ENSP00000554841.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 802,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884782.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Ala401Gly",
"transcript": "ENST00000884778.1",
"protein_id": "ENSP00000554837.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 796,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884778.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ala297Gly",
"transcript": "NM_001123066.4",
"protein_id": "NP_001116538.2",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 776,
"cds_start": 890,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123066.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ala297Gly",
"transcript": "ENST00000415613.6",
"protein_id": "ENSP00000410838.2",
"transcript_support_level": 5,
"aa_start": 297,
"aa_end": null,
"aa_length": 776,
"cds_start": 890,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415613.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"transcript": "ENST00000884781.1",
"protein_id": "ENSP00000554840.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 767,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884781.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"transcript": "ENST00000972116.1",
"protein_id": "ENSP00000642175.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 767,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972116.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Ala401Gly",
"transcript": "ENST00000884779.1",
"protein_id": "ENSP00000554838.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 765,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884779.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ala297Gly",
"transcript": "NM_016835.5",
"protein_id": "NP_058519.3",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 758,
"cds_start": 890,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016835.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ala297Gly",
"transcript": "ENST00000571987.5",
"protein_id": "ENSP00000458742.1",
"transcript_support_level": 5,
"aa_start": 297,
"aa_end": null,
"aa_length": 758,
"cds_start": 890,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571987.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1028C>G",
"hgvs_p": "p.Ala343Gly",
"transcript": "ENST00000972112.1",
"protein_id": "ENSP00000642171.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 738,
"cds_start": 1028,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972112.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"transcript": "NM_001377266.1",
"protein_id": "NP_001364195.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 736,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377266.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1028C>G",
"hgvs_p": "p.Ala343Gly",
"transcript": "ENST00000884787.1",
"protein_id": "ENSP00000554846.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 707,
"cds_start": 1028,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884787.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Ala401Gly",
"transcript": "XM_005257362.5",
"protein_id": "XP_005257419.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 862,
"cds_start": 1202,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257362.5"
},
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000703975.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "MAPT",
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"hgvs_c": "n.399-3346C>G",
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"transcript": "ENST00000703976.1",
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"biotype": "retained_intron",
"feature": "ENST00000703976.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "MAPT",
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"hgvs_c": "n.241-3346C>G",
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"transcript": "ENST00000703977.1",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000703977.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 5,
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"gene_symbol": "MAPT",
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"hgvs_c": "n.374-3346C>G",
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"transcript": "ENST00000703978.1",
"protein_id": "ENSP00000515600.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703978.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "MAPT",
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"hgvs_c": "n.238-3346C>G",
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"transcript": "ENST00000703979.1",
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"biotype": "pseudogene",
"feature": "ENST00000703979.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
"intron_rank": 4,
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"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"hgvs_c": "n.437-3346C>G",
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"transcript": "NR_165166.1",
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_165166.1"
}
],
"gene_symbol": "MAPT",
"gene_hgnc_id": 6893,
"dbsnp": "rs377402921",
"frequency_reference_population": 0.0000037182185,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.0000027369,
"gnomad_genomes_af": 0.0000131432,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04229533672332764,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0776,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.896,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001377265.1",
"gene_symbol": "MAPT",
"hgnc_id": 6893,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}