← 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: 2-189854621-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189854621&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189854621,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000441310.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg",
"transcript": "NM_000534.5",
"protein_id": "NP_000525.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 932,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "ENST00000441310.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg",
"transcript": "ENST00000441310.7",
"protein_id": "ENSP00000406490.3",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 932,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "NM_000534.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Gln235Arg",
"transcript": "ENST00000409593.5",
"protein_id": "ENSP00000387169.1",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 555,
"cds_start": 704,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "n.1232A>G",
"hgvs_p": null,
"transcript": "ENST00000424059.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg",
"transcript": "NM_001321045.2",
"protein_id": "NP_001307974.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 932,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg",
"transcript": "NM_001321047.2",
"protein_id": "NP_001307976.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 932,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg",
"transcript": "NM_001321048.2",
"protein_id": "NP_001307977.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 932,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Gln411Arg",
"transcript": "NM_001128143.2",
"protein_id": "NP_001121615.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 893,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Gln411Arg",
"transcript": "ENST00000409823.7",
"protein_id": "ENSP00000387125.3",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 893,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Gln389Arg",
"transcript": "NM_001321046.2",
"protein_id": "NP_001307975.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 871,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg",
"transcript": "NM_001128144.2",
"protein_id": "NP_001121616.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 770,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg",
"transcript": "ENST00000447232.6",
"protein_id": "ENSP00000401064.2",
"transcript_support_level": 2,
"aa_start": 450,
"aa_end": null,
"aa_length": 770,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.Gln274Arg",
"transcript": "NM_001289408.2",
"protein_id": "NP_001276337.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 756,
"cds_start": 821,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.Gln274Arg",
"transcript": "NM_001289409.2",
"protein_id": "NP_001276338.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 756,
"cds_start": 821,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.Gln274Arg",
"transcript": "ENST00000432292.7",
"protein_id": "ENSP00000398378.3",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 756,
"cds_start": 821,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.Gln274Arg",
"transcript": "ENST00000624204.3",
"protein_id": "ENSP00000485312.1",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 756,
"cds_start": 821,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Gln411Arg",
"transcript": "NM_001321044.2",
"protein_id": "NP_001307973.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 731,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Gln389Arg",
"transcript": "ENST00000424307.5",
"protein_id": "ENSP00000389938.1",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 710,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Gln411Arg",
"transcript": "ENST00000418224.7",
"protein_id": "ENSP00000404492.4",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 667,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Gln411Arg",
"transcript": "XM_017004344.2",
"protein_id": "XP_016859833.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 893,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Gln411Arg",
"transcript": "XM_024452966.2",
"protein_id": "XP_024308734.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 893,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Gln411Arg",
"transcript": "XM_024452967.2",
"protein_id": "XP_024308735.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 893,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Gln411Arg",
"transcript": "XM_047444775.1",
"protein_id": "XP_047300731.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 893,
"cds_start": 1232,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1049A>G",
"hgvs_p": "p.Gln350Arg",
"transcript": "XM_017004347.2",
"protein_id": "XP_016859836.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 832,
"cds_start": 1049,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg",
"transcript": "XM_047444776.1",
"protein_id": "XP_047300732.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 784,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg",
"transcript": "XM_017004348.2",
"protein_id": "XP_016859837.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 770,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg",
"transcript": "XM_047444777.1",
"protein_id": "XP_047300733.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 770,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Gln265Arg",
"transcript": "XM_006712596.2",
"protein_id": "XP_006712659.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 747,
"cds_start": 794,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Gln389Arg",
"transcript": "XM_017004350.2",
"protein_id": "XP_016859839.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 709,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Gln389Arg",
"transcript": "XM_047444778.1",
"protein_id": "XP_047300734.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 709,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "n.*919A>G",
"hgvs_p": null,
"transcript": "ENST00000342075.8",
"protein_id": "ENSP00000343888.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "n.1318A>G",
"hgvs_p": null,
"transcript": "ENST00000421722.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "n.1232A>G",
"hgvs_p": null,
"transcript": "ENST00000450931.5",
"protein_id": "ENSP00000406225.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "n.1493A>G",
"hgvs_p": null,
"transcript": "NR_110332.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "n.*919A>G",
"hgvs_p": null,
"transcript": "ENST00000342075.8",
"protein_id": "ENSP00000343888.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"hgvs_c": "c.583-22651A>G",
"hgvs_p": null,
"transcript": "ENST00000618056.4",
"protein_id": "ENSP00000480632.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300477",
"gene_hgnc_id": null,
"hgvs_c": "n.604-1836T>C",
"hgvs_p": null,
"transcript": "ENST00000772194.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105373796",
"gene_hgnc_id": null,
"hgvs_c": "n.319-1764T>C",
"hgvs_p": null,
"transcript": "XR_001739151.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PMS1",
"gene_hgnc_id": 9121,
"dbsnp": "rs56305733",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1254255473613739,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.0761,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.015,
"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": "ENST00000441310.7",
"gene_symbol": "PMS1",
"hgnc_id": 9121,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1349A>G",
"hgvs_p": "p.Gln450Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000772194.1",
"gene_symbol": "ENSG00000300477",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.604-1836T>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001739151.2",
"gene_symbol": "LOC105373796",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.319-1764T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}