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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: 2-27025682-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27025682&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27025682,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012326.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "NM_012326.4",
"protein_id": "NP_036458.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 281,
"cds_start": 569,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233121.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012326.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "ENST00000233121.7",
"protein_id": "ENSP00000233121.2",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 281,
"cds_start": 569,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012326.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233121.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "ENST00000879840.1",
"protein_id": "ENSP00000549899.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 282,
"cds_start": 569,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879840.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "NM_001303050.2",
"protein_id": "NP_001289979.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 281,
"cds_start": 569,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303050.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "ENST00000879843.1",
"protein_id": "ENSP00000549902.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 281,
"cds_start": 569,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879843.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "ENST00000879845.1",
"protein_id": "ENSP00000549904.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 281,
"cds_start": 569,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879845.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "ENST00000969424.1",
"protein_id": "ENSP00000639483.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 281,
"cds_start": 569,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969424.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "ENST00000969425.1",
"protein_id": "ENSP00000639484.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 281,
"cds_start": 569,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969425.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Ser177Leu",
"transcript": "ENST00000969423.1",
"protein_id": "ENSP00000639482.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 269,
"cds_start": 530,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969423.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Ser177Leu",
"transcript": "ENST00000879842.1",
"protein_id": "ENSP00000549901.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 268,
"cds_start": 530,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879842.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ser175Leu",
"transcript": "ENST00000879838.1",
"protein_id": "ENSP00000549897.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 267,
"cds_start": 524,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879838.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ser175Leu",
"transcript": "NM_001410716.1",
"protein_id": "NP_001397645.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 266,
"cds_start": 524,
"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": "NM_001410716.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ser175Leu",
"transcript": "ENST00000402218.1",
"protein_id": "ENSP00000385715.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 266,
"cds_start": 524,
"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": "ENST00000402218.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ser175Leu",
"transcript": "ENST00000405074.7",
"protein_id": "ENSP00000383915.3",
"transcript_support_level": 3,
"aa_start": 175,
"aa_end": null,
"aa_length": 266,
"cds_start": 524,
"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": "ENST00000405074.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ser175Leu",
"transcript": "ENST00000648289.1",
"protein_id": "ENSP00000497057.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 266,
"cds_start": 524,
"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": "ENST00000648289.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ser175Leu",
"transcript": "ENST00000879844.1",
"protein_id": "ENSP00000549903.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 266,
"cds_start": 524,
"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": "ENST00000879844.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ser175Leu",
"transcript": "ENST00000879846.1",
"protein_id": "ENSP00000549905.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 266,
"cds_start": 524,
"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": "ENST00000879846.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ser175Leu",
"transcript": "ENST00000879847.1",
"protein_id": "ENSP00000549906.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 266,
"cds_start": 524,
"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": "ENST00000879847.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Ser175Leu",
"transcript": "ENST00000928331.1",
"protein_id": "ENSP00000598390.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 266,
"cds_start": 524,
"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": "ENST00000928331.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "ENST00000879841.1",
"protein_id": "ENSP00000549900.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 253,
"cds_start": 485,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879841.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Ser157Leu",
"transcript": "ENST00000879839.1",
"protein_id": "ENSP00000549898.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 248,
"cds_start": 470,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879839.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ser148Leu",
"transcript": "ENST00000969422.1",
"protein_id": "ENSP00000639481.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 239,
"cds_start": 443,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969422.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "ENST00000458529.5",
"protein_id": "ENSP00000391705.1",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 217,
"cds_start": 569,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458529.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "XM_047443728.1",
"protein_id": "XP_047299684.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 281,
"cds_start": 569,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443728.1"
}
],
"gene_symbol": "MAPRE3",
"gene_hgnc_id": 6892,
"dbsnp": "rs1043008915",
"frequency_reference_population": 0.000026274649,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000262746,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12352663278579712,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.063,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.227,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012326.4",
"gene_symbol": "MAPRE3",
"hgnc_id": 6892,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu"
}
],
"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
}