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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: 19-3783168-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3783168&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3783168,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002378.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "NM_139355.3",
"protein_id": "NP_647612.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 634,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310132.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139355.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000310132.11",
"protein_id": "ENSP00000308734.5",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 634,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139355.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310132.11"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000585778.5",
"protein_id": "ENSP00000468030.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 506,
"cds_start": 634,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585778.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "ENST00000395040.6",
"protein_id": "ENSP00000378481.1",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 466,
"cds_start": 511,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395040.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000923602.1",
"protein_id": "ENSP00000593661.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 534,
"cds_start": 634,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923602.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"transcript": "NM_002378.4",
"protein_id": "NP_002369.2",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 508,
"cds_start": 637,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002378.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"transcript": "ENST00000395045.6",
"protein_id": "ENSP00000378485.1",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 508,
"cds_start": 637,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395045.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp",
"transcript": "ENST00000619596.4",
"protein_id": "ENSP00000483213.1",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 508,
"cds_start": 637,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619596.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "NM_001440577.1",
"protein_id": "NP_001427506.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 634,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440577.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000874393.1",
"protein_id": "ENSP00000544452.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 634,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874393.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000874396.1",
"protein_id": "ENSP00000544455.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 634,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874396.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000874397.1",
"protein_id": "ENSP00000544456.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 634,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874397.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000874398.1",
"protein_id": "ENSP00000544457.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 634,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874398.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000923599.1",
"protein_id": "ENSP00000593658.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 634,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923599.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000923601.1",
"protein_id": "ENSP00000593660.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 634,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923601.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000923604.1",
"protein_id": "ENSP00000593663.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 507,
"cds_start": 634,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923604.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "NM_001440578.1",
"protein_id": "NP_001427507.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 504,
"cds_start": 634,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440578.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "NM_001440579.1",
"protein_id": "NP_001427508.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 504,
"cds_start": 634,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440579.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000874394.1",
"protein_id": "ENSP00000544453.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 504,
"cds_start": 634,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874394.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000923600.1",
"protein_id": "ENSP00000593659.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 485,
"cds_start": 634,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923600.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000923603.1",
"protein_id": "ENSP00000593662.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 485,
"cds_start": 634,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923603.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Trp",
"transcript": "ENST00000874395.1",
"protein_id": "ENSP00000544454.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 478,
"cds_start": 634,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874395.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "NM_139354.3",
"protein_id": "NP_647611.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 466,
"cds_start": 511,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139354.3"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Trp",
"transcript": "ENST00000590493.5",
"protein_id": "ENSP00000468576.1",
"transcript_support_level": 3,
"aa_start": 127,
"aa_end": null,
"aa_length": 266,
"cds_start": 379,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590493.5"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Trp",
"transcript": "ENST00000588983.5",
"protein_id": "ENSP00000465761.1",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 236,
"cds_start": 235,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588983.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"hgvs_c": "c.277C>T",
"hgvs_p": "p.Arg93Trp",
"transcript": "ENST00000587180.1",
"protein_id": "ENSP00000468465.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 130,
"cds_start": 277,
"cds_end": null,
"cds_length": 394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587180.1"
}
],
"gene_symbol": "MATK",
"gene_hgnc_id": 6906,
"dbsnp": "rs778924826",
"frequency_reference_population": 0.000013630934,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000143661,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38759922981262207,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.1297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.614,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002378.4",
"gene_symbol": "MATK",
"hgnc_id": 6906,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}