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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: 3-37048994-GA-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=37048994&ref=GA&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 37048994,
"ref": "GA",
"alt": "TC",
"effect": "missense_variant",
"transcript": "NM_000249.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.2080_2081delGAinsTC",
"hgvs_p": "p.Glu694Ser",
"transcript": "NM_000249.4",
"protein_id": "NP_000240.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 756,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "ENST00000231790.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000249.4"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.2080_2081delGAinsTC",
"hgvs_p": "p.Glu694Ser",
"transcript": "ENST00000231790.8",
"protein_id": "ENSP00000231790.3",
"transcript_support_level": 1,
"aa_start": 694,
"aa_end": null,
"aa_length": 756,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": "NM_000249.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231790.8"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1357_1358delGAinsTC",
"hgvs_p": "p.Glu453Ser",
"transcript": "ENST00000458205.6",
"protein_id": "ENSP00000402667.2",
"transcript_support_level": 1,
"aa_start": 453,
"aa_end": null,
"aa_length": 515,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458205.6"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1896+1311_1896+1312delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000456676.7",
"protein_id": "ENSP00000416687.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": null,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456676.7"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1668-1492_1668-1491delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000413740.2",
"protein_id": "ENSP00000416476.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": null,
"cds_end": null,
"cds_length": 1835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413740.2"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1559-1492_1559-1491delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000450420.6",
"protein_id": "ENSP00000393006.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": null,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450420.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1912_*1913delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000432299.6",
"protein_id": "ENSP00000416783.1",
"transcript_support_level": 1,
"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": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432299.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1191_*1192delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000447829.6",
"protein_id": "ENSP00000399329.2",
"transcript_support_level": 1,
"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": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000447829.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*981_*982delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000458009.7",
"protein_id": "ENSP00000411066.2",
"transcript_support_level": 1,
"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": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458009.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1912_*1913delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000432299.6",
"protein_id": "ENSP00000416783.1",
"transcript_support_level": 1,
"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": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432299.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*1191_*1192delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000447829.6",
"protein_id": "ENSP00000399329.2",
"transcript_support_level": 1,
"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": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000447829.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "n.*981_*982delGAinsTC",
"hgvs_p": null,
"transcript": "ENST00000458009.7",
"protein_id": "ENSP00000411066.2",
"transcript_support_level": 1,
"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": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458009.7"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.2101_2102delGAinsTC",
"hgvs_p": "p.Glu701Ser",
"transcript": "ENST00000931189.1",
"protein_id": "ENSP00000601248.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 763,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931189.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.2077_2078delGAinsTC",
"hgvs_p": "p.Glu693Ser",
"transcript": "ENST00000948704.1",
"protein_id": "ENSP00000618763.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 755,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948704.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1987_1988delGAinsTC",
"hgvs_p": "p.Glu663Ser",
"transcript": "NM_001354628.2",
"protein_id": "NP_001341557.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 725,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354628.2"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1987_1988delGAinsTC",
"hgvs_p": "p.Glu663Ser",
"transcript": "ENST00000616768.6",
"protein_id": "ENSP00000480669.3",
"transcript_support_level": 2,
"aa_start": 663,
"aa_end": null,
"aa_length": 725,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616768.6"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1981_1982delGAinsTC",
"hgvs_p": "p.Glu661Ser",
"transcript": "NM_001354629.2",
"protein_id": "NP_001341558.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 723,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354629.2"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1981_1982delGAinsTC",
"hgvs_p": "p.Glu661Ser",
"transcript": "ENST00000713802.1",
"protein_id": "ENSP00000519108.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 723,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713802.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1915_1916delGAinsTC",
"hgvs_p": "p.Glu639Ser",
"transcript": "NM_001354630.2",
"protein_id": "NP_001341559.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 701,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354630.2"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1915_1916delGAinsTC",
"hgvs_p": "p.Glu639Ser",
"transcript": "ENST00000673673.2",
"protein_id": "ENSP00000500979.2",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 701,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673673.2"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1786_1787delGAinsTC",
"hgvs_p": "p.Glu596Ser",
"transcript": "NM_001167617.3",
"protein_id": "NP_001161089.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 658,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167617.3"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"hgvs_c": "c.1786_1787delGAinsTC",
"hgvs_p": "p.Glu596Ser",
"transcript": "NM_001354620.2",
"protein_id": "NP_001341549.1",
"transcript_support_level": null,
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"transcript": "ENST00000673897.1",
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{
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{
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{
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],
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"gene_symbol": "MLH1",
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"transcript": "ENST00000674111.1",
"protein_id": "ENSP00000501162.1",
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"aa_end": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674111.1"
}
],
"gene_symbol": "MLH1",
"gene_hgnc_id": 7127,
"dbsnp": "rs876659002",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.052,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000249.4",
"gene_symbol": "MLH1",
"hgnc_id": 7127,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2080_2081delGAinsTC",
"hgvs_p": "p.Glu694Ser"
}
],
"clinvar_disease": " hereditary nonpolyposis, type 2,Colorectal cancer,Hereditary cancer-predisposing syndrome,Hereditary nonpolyposis colorectal neoplasms,Lynch syndrome,Muir-Torré syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:7 LB:2",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|not provided|not specified|Colorectal cancer, hereditary nonpolyposis, type 2|Lynch syndrome|Muir-Torré syndrome;Colorectal cancer, hereditary nonpolyposis, type 2",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}