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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: 19-3779400-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3779400&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MATK",
"hgnc_id": 6906,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Ala328Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_002378.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.0732,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0732077956199646,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1524,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_139355.3",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310132.11",
"protein_coding": true,
"protein_id": "NP_647612.1",
"strand": false,
"transcript": "NM_139355.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1524,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000310132.11",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_139355.3",
"protein_coding": true,
"protein_id": "ENSP00000308734.5",
"strand": false,
"transcript": "ENST00000310132.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 506,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1521,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000585778.5",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468030.1",
"strand": false,
"transcript": "ENST00000585778.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 466,
"aa_ref": "A",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1401,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000395040.6",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Ala286Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378481.1",
"strand": false,
"transcript": "ENST00000395040.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "A",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000923602.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Ala354Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593661.1",
"strand": false,
"transcript": "ENST00000923602.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 508,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1527,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_002378.4",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Ala328Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002369.2",
"strand": false,
"transcript": "NM_002378.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 508,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1527,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000395045.6",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Ala328Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378485.1",
"strand": false,
"transcript": "ENST00000395045.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 508,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1527,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000619596.4",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Ala328Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483213.1",
"strand": false,
"transcript": "ENST00000619596.4",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 1524,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001440577.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427506.1",
"strand": false,
"transcript": "NM_001440577.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1524,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000874393.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544452.1",
"strand": false,
"transcript": "ENST00000874393.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1524,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000874396.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544455.1",
"strand": false,
"transcript": "ENST00000874396.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1524,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000874397.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544456.1",
"strand": false,
"transcript": "ENST00000874397.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1524,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000874398.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544457.1",
"strand": false,
"transcript": "ENST00000874398.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1524,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000923599.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593658.1",
"strand": false,
"transcript": "ENST00000923599.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1524,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000923601.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593660.1",
"strand": false,
"transcript": "ENST00000923601.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1524,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000923604.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.979G>T",
"hgvs_p": "p.Ala327Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593663.1",
"strand": false,
"transcript": "ENST00000923604.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 504,
"aa_ref": "A",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1515,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001440578.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.970G>T",
"hgvs_p": "p.Ala324Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427507.1",
"strand": false,
"transcript": "NM_001440578.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 504,
"aa_ref": "A",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1515,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001440579.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.970G>T",
"hgvs_p": "p.Ala324Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427508.1",
"strand": false,
"transcript": "NM_001440579.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 504,
"aa_ref": "A",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1515,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000874394.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.970G>T",
"hgvs_p": "p.Ala324Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544453.1",
"strand": false,
"transcript": "ENST00000874394.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 485,
"aa_ref": "A",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1458,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000923600.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Ala305Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593659.1",
"strand": false,
"transcript": "ENST00000923600.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 485,
"aa_ref": "A",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1458,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000923603.1",
"gene_hgnc_id": 6906,
"gene_symbol": "MATK",
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Ala305Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593662.1",
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]
}