← Back to variant description
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: 2-27024235-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27024235&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAPRE3",
"hgnc_id": 6892,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_012326.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.0701,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "2",
"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": 0.13553839921951294,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 580,
"cds_end": null,
"cds_length": 846,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_012326.4",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233121.7",
"protein_coding": true,
"protein_id": "NP_036458.2",
"strand": true,
"transcript": "NM_012326.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 580,
"cds_end": null,
"cds_length": 846,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000233121.7",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012326.4",
"protein_coding": true,
"protein_id": "ENSP00000233121.2",
"strand": true,
"transcript": "ENST00000233121.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 580,
"cds_end": null,
"cds_length": 849,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879840.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549899.1",
"strand": true,
"transcript": "ENST00000879840.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 645,
"cds_end": null,
"cds_length": 846,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001303050.2",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289979.1",
"strand": true,
"transcript": "NM_001303050.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 538,
"cds_end": null,
"cds_length": 846,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879843.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549902.1",
"strand": true,
"transcript": "ENST00000879843.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 487,
"cds_end": null,
"cds_length": 846,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879845.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549904.1",
"strand": true,
"transcript": "ENST00000879845.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 853,
"cds_end": null,
"cds_length": 846,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969424.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639483.1",
"strand": true,
"transcript": "ENST00000969424.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 881,
"cds_end": null,
"cds_length": 846,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000969425.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639484.1",
"strand": true,
"transcript": "ENST00000969425.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 269,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 525,
"cds_end": null,
"cds_length": 810,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969423.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ala123Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639482.1",
"strand": true,
"transcript": "ENST00000969423.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 268,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 530,
"cds_end": null,
"cds_length": 807,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879842.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ala123Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549901.1",
"strand": true,
"transcript": "ENST00000879842.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 267,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 582,
"cds_end": null,
"cds_length": 804,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879838.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549897.1",
"strand": true,
"transcript": "ENST00000879838.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 266,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 580,
"cds_end": null,
"cds_length": 801,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001410716.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397645.1",
"strand": true,
"transcript": "NM_001410716.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 266,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1001,
"cdna_start": 600,
"cds_end": null,
"cds_length": 801,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000402218.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385715.1",
"strand": true,
"transcript": "ENST00000402218.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 266,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 559,
"cds_end": null,
"cds_length": 801,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000405074.7",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383915.3",
"strand": true,
"transcript": "ENST00000405074.7",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 266,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1281,
"cdna_start": 805,
"cds_end": null,
"cds_length": 801,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000648289.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497057.1",
"strand": true,
"transcript": "ENST00000648289.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 266,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 504,
"cds_end": null,
"cds_length": 801,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879844.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549903.1",
"strand": true,
"transcript": "ENST00000879844.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 266,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 483,
"cds_end": null,
"cds_length": 801,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879846.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549905.1",
"strand": true,
"transcript": "ENST00000879846.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 266,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 718,
"cds_end": null,
"cds_length": 801,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879847.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549906.1",
"strand": true,
"transcript": "ENST00000879847.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 266,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 627,
"cds_end": null,
"cds_length": 801,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928331.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598390.1",
"strand": true,
"transcript": "ENST00000928331.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 253,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 541,
"cds_end": null,
"cds_length": 762,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879841.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ala123Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549900.1",
"strand": true,
"transcript": "ENST00000879841.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 481,
"cds_end": null,
"cds_length": 747,
"cds_start": 308,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879839.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Ala103Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549898.1",
"strand": true,
"transcript": "ENST00000879839.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 239,
"aa_ref": "A",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 458,
"cds_end": null,
"cds_length": 720,
"cds_start": 281,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969422.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639481.1",
"strand": true,
"transcript": "ENST00000969422.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 217,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 878,
"cdna_start": 631,
"cds_end": null,
"cds_length": 654,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000458529.5",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391705.1",
"strand": true,
"transcript": "ENST00000458529.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1808,
"cdna_start": 498,
"cds_end": null,
"cds_length": 846,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047443728.1",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299684.1",
"strand": true,
"transcript": "XM_047443728.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1160,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475633.5",
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"hgvs_c": "n.*14C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000475633.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs761152460",
"effect": "missense_variant",
"frequency_reference_population": 0.000009912485,
"gene_hgnc_id": 6892,
"gene_symbol": "MAPRE3",
"gnomad_exomes_ac": 14,
"gnomad_exomes_af": 0.0000095768,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131354,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.037,
"pos": 27024235,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.109,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_012326.4"
}
]
}