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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: 2-174811538-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174811538&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174811538,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000409900.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys",
"transcript": "NM_001822.7",
"protein_id": "NP_001813.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 459,
"cds_start": 937,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "ENST00000409900.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys",
"transcript": "ENST00000409900.9",
"protein_id": "ENSP00000386741.4",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 459,
"cds_start": 937,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "NM_001822.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Glu188Lys",
"transcript": "ENST00000295497.13",
"protein_id": "ENSP00000295497.7",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 334,
"cds_start": 562,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.580G>A",
"hgvs_p": null,
"transcript": "ENST00000488080.6",
"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": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Glu330Lys",
"transcript": "NM_001371514.1",
"protein_id": "NP_001358443.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 476,
"cds_start": 988,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys",
"transcript": "NM_001371513.1",
"protein_id": "NP_001358442.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 459,
"cds_start": 937,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Glu287Lys",
"transcript": "NM_001025201.4",
"protein_id": "NP_001020372.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 433,
"cds_start": 859,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Glu287Lys",
"transcript": "ENST00000409156.7",
"protein_id": "ENSP00000386470.3",
"transcript_support_level": 2,
"aa_start": 287,
"aa_end": null,
"aa_length": 433,
"cds_start": 859,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Glu205Lys",
"transcript": "ENST00000652036.1",
"protein_id": "ENSP00000499139.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 351,
"cds_start": 613,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Glu188Lys",
"transcript": "NM_001206602.2",
"protein_id": "NP_001193531.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 334,
"cds_start": 562,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Glu177Lys",
"transcript": "ENST00000651246.1",
"protein_id": "ENSP00000498484.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 323,
"cds_start": 529,
"cds_end": null,
"cds_length": 972,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Glu188Lys",
"transcript": "ENST00000444394.7",
"protein_id": "ENSP00000411911.2",
"transcript_support_level": 3,
"aa_start": 188,
"aa_end": null,
"aa_length": 321,
"cds_start": 562,
"cds_end": null,
"cds_length": 966,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Glu139Lys",
"transcript": "ENST00000443238.6",
"protein_id": "ENSP00000409798.2",
"transcript_support_level": 4,
"aa_start": 139,
"aa_end": null,
"aa_length": 285,
"cds_start": 415,
"cds_end": null,
"cds_length": 858,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Glu131Lys",
"transcript": "ENST00000413882.6",
"protein_id": "ENSP00000410496.2",
"transcript_support_level": 3,
"aa_start": 131,
"aa_end": null,
"aa_length": 277,
"cds_start": 391,
"cds_end": null,
"cds_length": 834,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Glu129Lys",
"transcript": "ENST00000409597.5",
"protein_id": "ENSP00000386469.1",
"transcript_support_level": 3,
"aa_start": 129,
"aa_end": null,
"aa_length": 275,
"cds_start": 385,
"cds_end": null,
"cds_length": 828,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Glu154Lys",
"transcript": "ENST00000650938.1",
"protein_id": "ENSP00000498385.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 254,
"cds_start": 460,
"cds_end": null,
"cds_length": 765,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Glu88Lys",
"transcript": "ENST00000650731.1",
"protein_id": "ENSP00000499146.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 234,
"cds_start": 262,
"cds_end": null,
"cds_length": 705,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000409089.7",
"protein_id": "ENSP00000386322.3",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 203,
"cds_start": 313,
"cds_end": null,
"cds_length": 612,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*384G>A",
"hgvs_p": null,
"transcript": "ENST00000425395.6",
"protein_id": "ENSP00000405270.2",
"transcript_support_level": 3,
"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": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.96G>A",
"hgvs_p": null,
"transcript": "ENST00000491801.1",
"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": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*384G>A",
"hgvs_p": null,
"transcript": "ENST00000651501.1",
"protein_id": "ENSP00000498894.1",
"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": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*213G>A",
"hgvs_p": null,
"transcript": "ENST00000651717.1",
"protein_id": "ENSP00000499124.1",
"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": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.805G>A",
"hgvs_p": null,
"transcript": "NR_038133.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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},
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},
{
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},
{
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},
{
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],
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"gene_symbol": "ENSG00000236449",
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}
],
"gene_symbol": "CHN1",
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"dbsnp": "rs121912798",
"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": 0.7580352425575256,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.405,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9196,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000409900.9",
"gene_symbol": "CHN1",
"hgnc_id": 1943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000842845.1",
"gene_symbol": "ENSG00000236449",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.327-35393C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Duane retraction syndrome 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Duane retraction syndrome 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}