← 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: 3-37050523-GG-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=37050523&ref=GG&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MLH1",
"hgnc_id": 7127,
"hgvs_c": "c.2141_2142delGGinsCA",
"hgvs_p": "p.Trp714Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_000249.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "W",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000249.4",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2141_2142delGGinsCA",
"hgvs_p": "p.Trp714Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000231790.8",
"protein_coding": true,
"protein_id": "NP_000240.1",
"strand": true,
"transcript": "NM_000249.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "W",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2141,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000231790.8",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2141_2142delGGinsCA",
"hgvs_p": "p.Trp714Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000249.4",
"protein_coding": true,
"protein_id": "ENSP00000231790.3",
"strand": true,
"transcript": "ENST00000231790.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 687,
"aa_ref": "W",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1934,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456676.7",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1934_1935delGGinsCA",
"hgvs_p": "p.Trp645Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416687.3",
"strand": true,
"transcript": "ENST00000456676.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 610,
"aa_ref": "G",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1896,
"cds_end": null,
"cds_length": 1835,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413740.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1705_1706delGGinsCA",
"hgvs_p": "p.Gly569Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416476.2",
"strand": true,
"transcript": "ENST00000413740.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000458205.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402667.2",
"strand": true,
"transcript": "ENST00000458205.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 520,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": null,
"cds_end": null,
"cds_length": 1563,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000450420.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.*33_*34delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393006.2",
"strand": true,
"transcript": "ENST00000450420.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000432299.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1973_*1974delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416783.1",
"strand": true,
"transcript": "ENST00000432299.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000447829.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1252_*1253delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399329.2",
"strand": true,
"transcript": "ENST00000447829.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000458009.7",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1042_*1043delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411066.2",
"strand": true,
"transcript": "ENST00000458009.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000432299.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1973_*1974delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416783.1",
"strand": true,
"transcript": "ENST00000432299.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000447829.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1252_*1253delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399329.2",
"strand": true,
"transcript": "ENST00000447829.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000458009.7",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1042_*1043delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411066.2",
"strand": true,
"transcript": "ENST00000458009.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 763,
"aa_ref": "W",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931189.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2162_2163delGGinsCA",
"hgvs_p": "p.Trp721Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601248.1",
"strand": true,
"transcript": "ENST00000931189.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 755,
"aa_ref": "W",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 2268,
"cds_start": 2138,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948704.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2138_2139delGGinsCA",
"hgvs_p": "p.Trp713Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618763.1",
"strand": true,
"transcript": "ENST00000948704.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 725,
"aa_ref": "W",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 2178,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354628.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2048_2049delGGinsCA",
"hgvs_p": "p.Trp683Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341557.1",
"strand": true,
"transcript": "NM_001354628.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 725,
"aa_ref": "W",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 2178,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616768.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2048_2049delGGinsCA",
"hgvs_p": "p.Trp683Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480669.3",
"strand": true,
"transcript": "ENST00000616768.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 723,
"aa_ref": "W",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354629.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2042_2043delGGinsCA",
"hgvs_p": "p.Trp681Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341558.1",
"strand": true,
"transcript": "NM_001354629.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 723,
"aa_ref": "W",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713802.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2042_2043delGGinsCA",
"hgvs_p": "p.Trp681Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519108.1",
"strand": true,
"transcript": "ENST00000713802.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 701,
"aa_ref": "W",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1976,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354630.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1976_1977delGGinsCA",
"hgvs_p": "p.Trp659Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341559.1",
"strand": true,
"transcript": "NM_001354630.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 701,
"aa_ref": "W",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1976,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673673.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1976_1977delGGinsCA",
"hgvs_p": "p.Trp659Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500979.2",
"strand": true,
"transcript": "ENST00000673673.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 687,
"aa_ref": "W",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1934,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001258271.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1934_1935delGGinsCA",
"hgvs_p": "p.Trp645Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245200.1",
"strand": true,
"transcript": "NM_001258271.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 658,
"aa_ref": "W",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1847,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001167617.3",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1847_1848delGGinsCA",
"hgvs_p": "p.Trp616Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161089.1",
"strand": true,
"transcript": "NM_001167617.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 658,
"aa_ref": "W",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1847,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354620.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1847_1848delGGinsCA",
"hgvs_p": "p.Trp616Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341549.1",
"strand": true,
"transcript": "NM_001354620.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 658,
"aa_ref": "W",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1847,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429117.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1847_1848delGGinsCA",
"hgvs_p": "p.Trp616Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407019.2",
"strand": true,
"transcript": "ENST00000429117.6",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 658,
"aa_ref": "W",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 2107,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1847,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435176.5",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1847_1848delGGinsCA",
"hgvs_p": "p.Trp616Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402564.1",
"strand": true,
"transcript": "ENST00000435176.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "W",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931190.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1769_1770delGGinsCA",
"hgvs_p": "p.Trp590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601249.1",
"strand": true,
"transcript": "ENST00000931190.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "W",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948705.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1769_1770delGGinsCA",
"hgvs_p": "p.Trp590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618764.1",
"strand": true,
"transcript": "ENST00000948705.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 581,
"aa_ref": "W",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931191.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1616_1617delGGinsCA",
"hgvs_p": "p.Trp539Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601250.1",
"strand": true,
"transcript": "ENST00000931191.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001167618.3",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161090.1",
"strand": true,
"transcript": "NM_001167618.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001167619.3",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161091.1",
"strand": true,
"transcript": "NM_001167619.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001258273.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245202.1",
"strand": true,
"transcript": "NM_001258273.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 2543,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001258274.3",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245203.1",
"strand": true,
"transcript": "NM_001258274.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2397,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354615.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341544.1",
"strand": true,
"transcript": "NM_001354615.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2397,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354616.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341545.1",
"strand": true,
"transcript": "NM_001354616.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354617.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341546.1",
"strand": true,
"transcript": "NM_001354617.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 2398,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354618.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341547.1",
"strand": true,
"transcript": "NM_001354618.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2845,
"cdna_start": 2522,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354619.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341548.1",
"strand": true,
"transcript": "NM_001354619.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455445.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398272.2",
"strand": true,
"transcript": "ENST00000455445.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 2174,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000466900.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519069.1",
"strand": true,
"transcript": "ENST00000466900.6",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000485889.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518946.1",
"strand": true,
"transcript": "ENST00000485889.2",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492474.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518393.1",
"strand": true,
"transcript": "ENST00000492474.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536378.5",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444286.2",
"strand": true,
"transcript": "ENST00000536378.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539477.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443665.1",
"strand": true,
"transcript": "ENST00000539477.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 2276,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674019.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501081.1",
"strand": true,
"transcript": "ENST00000674019.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 512,
"aa_ref": "W",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673899.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1409_1410delGGinsCA",
"hgvs_p": "p.Trp470Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501030.1",
"strand": true,
"transcript": "ENST00000673899.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 415,
"aa_ref": "W",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 2191,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354621.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1118_1119delGGinsCA",
"hgvs_p": "p.Trp373Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341550.1",
"strand": true,
"transcript": "NM_001354621.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 415,
"aa_ref": "W",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354622.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1118_1119delGGinsCA",
"hgvs_p": "p.Trp373Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341551.1",
"strand": true,
"transcript": "NM_001354622.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 415,
"aa_ref": "W",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 2213,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354623.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1118_1119delGGinsCA",
"hgvs_p": "p.Trp373Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341552.1",
"strand": true,
"transcript": "NM_001354623.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 415,
"aa_ref": "W",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 1248,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673990.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1118_1119delGGinsCA",
"hgvs_p": "p.Trp373Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518979.1",
"strand": true,
"transcript": "ENST00000673990.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "W",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 1197,
"cds_start": 1067,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354624.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1067_1068delGGinsCA",
"hgvs_p": "p.Trp356Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341553.1",
"strand": true,
"transcript": "NM_001354624.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "W",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1197,
"cds_start": 1067,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354625.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1067_1068delGGinsCA",
"hgvs_p": "p.Trp356Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341554.1",
"strand": true,
"transcript": "NM_001354625.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "W",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 1197,
"cds_start": 1067,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354626.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1067_1068delGGinsCA",
"hgvs_p": "p.Trp356Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341555.1",
"strand": true,
"transcript": "NM_001354626.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "W",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 1197,
"cds_start": 1067,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354627.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1067_1068delGGinsCA",
"hgvs_p": "p.Trp356Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341556.1",
"strand": true,
"transcript": "NM_001354627.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 723,
"aa_ref": "W",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448152.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.2042_2043delGGinsCA",
"hgvs_p": "p.Trp681Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304108.1",
"strand": true,
"transcript": "XM_047448152.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 687,
"aa_ref": "W",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1934,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005265161.3",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1934_1935delGGinsCA",
"hgvs_p": "p.Trp645Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265218.1",
"strand": true,
"transcript": "XM_005265161.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448153.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304109.1",
"strand": true,
"transcript": "XM_047448153.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448154.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304110.1",
"strand": true,
"transcript": "XM_047448154.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "W",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 2039,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448155.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "c.1418_1419delGGinsCA",
"hgvs_p": "p.Trp473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304111.1",
"strand": true,
"transcript": "XM_047448155.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000413212.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1059_*1060delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400844.2",
"strand": true,
"transcript": "ENST00000413212.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000454028.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*2014_*2015delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392649.1",
"strand": true,
"transcript": "ENST00000454028.6",
"transcript_support_level": 5
},
{
"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": 1495,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673741.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.1175_1176delGGinsCA",
"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": "ENST00000673741.1",
"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": 1799,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000673889.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.1523_1524delGGinsCA",
"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": "ENST00000673889.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000673897.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1933_*1934delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501109.1",
"strand": true,
"transcript": "ENST00000673897.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000673947.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*2281_*2282delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501304.1",
"strand": true,
"transcript": "ENST00000673947.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000673972.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*2019_*2020delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501281.1",
"strand": true,
"transcript": "ENST00000673972.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000674111.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*370_*371delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501162.1",
"strand": true,
"transcript": "ENST00000674111.1",
"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": 1167,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000674125.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.852_853delGGinsCA",
"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": "ENST00000674125.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000413212.2",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1059_*1060delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400844.2",
"strand": true,
"transcript": "ENST00000413212.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000454028.6",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*2014_*2015delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392649.1",
"strand": true,
"transcript": "ENST00000454028.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000673897.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*1933_*1934delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501109.1",
"strand": true,
"transcript": "ENST00000673897.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000673947.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*2281_*2282delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501304.1",
"strand": true,
"transcript": "ENST00000673947.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000673972.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*2019_*2020delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501281.1",
"strand": true,
"transcript": "ENST00000673972.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000674111.1",
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"hgvs_c": "n.*370_*371delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501162.1",
"strand": true,
"transcript": "ENST00000674111.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7127,
"gene_symbol": "MLH1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.763,
"pos": 37050523,
"ref": "GG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_000249.4"
}
]
}