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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: 3-49909045-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49909045&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49909045,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032355.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "NM_032355.4",
"protein_id": "NP_115731.3",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296473.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032355.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000296473.8",
"protein_id": "ENSP00000296473.4",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032355.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296473.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"transcript": "ENST00000455683.7",
"protein_id": "ENSP00000404793.3",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 393,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455683.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583His",
"transcript": "ENST00000864154.1",
"protein_id": "ENSP00000534213.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 592,
"cds_start": 1748,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864154.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000417270.2",
"protein_id": "ENSP00000399613.2",
"transcript_support_level": 5,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417270.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000642691.1",
"protein_id": "ENSP00000494294.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642691.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000645862.1",
"protein_id": "ENSP00000494452.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645862.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000864155.1",
"protein_id": "ENSP00000534214.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864155.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000864158.1",
"protein_id": "ENSP00000534217.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864158.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000864159.1",
"protein_id": "ENSP00000534218.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864159.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000948760.1",
"protein_id": "ENSP00000618819.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948760.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000948762.1",
"protein_id": "ENSP00000618821.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948762.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000948763.1",
"protein_id": "ENSP00000618822.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948763.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000948765.1",
"protein_id": "ENSP00000618824.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948765.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "ENST00000948766.1",
"protein_id": "ENSP00000618825.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948766.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "ENST00000948761.1",
"protein_id": "ENSP00000618820.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 430,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948761.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"transcript": "NM_001142501.2",
"protein_id": "NP_001135973.2",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 393,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142501.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"transcript": "ENST00000864156.1",
"protein_id": "ENSP00000534215.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 393,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864156.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"transcript": "ENST00000864157.1",
"protein_id": "ENSP00000534216.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 393,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864157.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384His",
"transcript": "ENST00000948764.1",
"protein_id": "ENSP00000618823.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 393,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948764.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "XM_006713345.5",
"protein_id": "XP_006713408.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713345.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His",
"transcript": "XM_011534160.2",
"protein_id": "XP_011532462.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 555,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534160.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"hgvs_c": "n.2261G>A",
"hgvs_p": null,
"transcript": "ENST00000486107.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486107.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000230698",
"gene_hgnc_id": null,
"hgvs_c": "n.104+4955C>T",
"hgvs_p": null,
"transcript": "ENST00000419183.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000419183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000230698",
"gene_hgnc_id": null,
"hgvs_c": "n.108+4955C>T",
"hgvs_p": null,
"transcript": "ENST00000840446.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000840446.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000230698",
"gene_hgnc_id": null,
"hgvs_c": "n.107+4955C>T",
"hgvs_p": null,
"transcript": "ENST00000840447.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000840447.1"
}
],
"gene_symbol": "MON1A",
"gene_hgnc_id": 28207,
"dbsnp": "rs752527712",
"frequency_reference_population": 0.000009915544,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000889554,
"gnomad_genomes_af": 0.0000197081,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8681061863899231,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.792,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1849,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.047,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032355.4",
"gene_symbol": "MON1A",
"hgnc_id": 28207,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546His"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000419183.1",
"gene_symbol": "ENSG00000230698",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.104+4955C>T",
"hgvs_p": null
}
],
"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
}