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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: 17-44351430-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44351430&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GRN",
"hgnc_id": 4601,
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_002087.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_score": -17,
"allele_count_reference_population": 1309,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "17",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions,Inborn genetic diseases,Neuronal ceroid lipofuscinosis 11,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6800000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_002087.4",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000053867.8",
"protein_coding": true,
"protein_id": "NP_002078.1",
"strand": true,
"transcript": "NM_002087.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000053867.8",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002087.4",
"protein_coding": true,
"protein_id": "ENSP00000053867.2",
"strand": true,
"transcript": "ENST00000053867.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000900927.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570986.1",
"strand": true,
"transcript": "ENST00000900927.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000900929.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570988.1",
"strand": true,
"transcript": "ENST00000900929.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000900931.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570990.1",
"strand": true,
"transcript": "ENST00000900931.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000900932.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570991.1",
"strand": true,
"transcript": "ENST00000900932.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000918283.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588342.1",
"strand": true,
"transcript": "ENST00000918283.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000918285.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588344.1",
"strand": true,
"transcript": "ENST00000918285.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000918286.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588345.1",
"strand": true,
"transcript": "ENST00000918286.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000944506.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614565.1",
"strand": true,
"transcript": "ENST00000944506.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1782,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000944507.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614566.1",
"strand": true,
"transcript": "ENST00000944507.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 577,
"aa_ref": "S",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1734,
"cds_start": 855,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000900934.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.855G>A",
"hgvs_p": "p.Ser285Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570993.1",
"strand": true,
"transcript": "ENST00000900934.1",
"transcript_support_level": null
},
{
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"aa_length": 573,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1722,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000900930.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570989.1",
"strand": true,
"transcript": "ENST00000900930.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 568,
"aa_ref": "S",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1707,
"cds_start": 903,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000900935.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Ser301Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570994.1",
"strand": true,
"transcript": "ENST00000900935.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 558,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1677,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000918287.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Ser266Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588346.1",
"strand": true,
"transcript": "ENST00000918287.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 511,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1536,
"cds_start": 657,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900933.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.657G>A",
"hgvs_p": "p.Ser219Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570992.1",
"strand": true,
"transcript": "ENST00000900933.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 445,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1338,
"cds_start": 459,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000944505.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.459G>A",
"hgvs_p": "p.Ser153Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614564.1",
"strand": true,
"transcript": "ENST00000944505.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 387,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 344,
"cds_end": null,
"cds_length": 1164,
"cds_start": 342,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000586443.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ser114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465673.1",
"strand": true,
"transcript": "ENST00000586443.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_length": 569,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": null,
"cds_end": null,
"cds_length": 1710,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900928.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.861+42G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570987.1",
"strand": true,
"transcript": "ENST00000900928.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 556,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": null,
"cds_end": null,
"cds_length": 1671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900926.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.822+42G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570985.1",
"strand": true,
"transcript": "ENST00000900926.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918284.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.861+42G>A",
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],
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"phenotype_combined": "not provided|not specified|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions;Neuronal ceroid lipofuscinosis 11|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions|Inborn genetic diseases",
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}
]
}