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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: 22-41577886-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41577886&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41577886,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002676.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.588G>C",
"hgvs_p": "p.Trp196Cys",
"transcript": "NM_002676.3",
"protein_id": "NP_002667.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 262,
"cds_start": 588,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216259.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002676.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.588G>C",
"hgvs_p": "p.Trp196Cys",
"transcript": "ENST00000216259.8",
"protein_id": "ENSP00000216259.7",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 262,
"cds_start": 588,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002676.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216259.8"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Trp274Cys",
"transcript": "ENST00000949539.1",
"protein_id": "ENSP00000619598.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 340,
"cds_start": 822,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949539.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.717G>C",
"hgvs_p": "p.Trp239Cys",
"transcript": "ENST00000940470.1",
"protein_id": "ENSP00000610529.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 305,
"cds_start": 717,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940470.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Trp211Cys",
"transcript": "ENST00000949538.1",
"protein_id": "ENSP00000619597.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 277,
"cds_start": 633,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949538.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.615G>C",
"hgvs_p": "p.Trp205Cys",
"transcript": "ENST00000949537.1",
"protein_id": "ENSP00000619596.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 271,
"cds_start": 615,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949537.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.609G>C",
"hgvs_p": "p.Trp203Cys",
"transcript": "ENST00000896620.1",
"protein_id": "ENSP00000566679.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 269,
"cds_start": 609,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896620.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.588G>C",
"hgvs_p": "p.Trp196Cys",
"transcript": "ENST00000949536.1",
"protein_id": "ENSP00000619595.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 262,
"cds_start": 588,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949536.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.585G>C",
"hgvs_p": "p.Trp195Cys",
"transcript": "ENST00000940468.1",
"protein_id": "ENSP00000610527.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 261,
"cds_start": 585,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940468.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.582G>C",
"hgvs_p": "p.Trp194Cys",
"transcript": "ENST00000940469.1",
"protein_id": "ENSP00000610528.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 260,
"cds_start": 582,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940469.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.582G>C",
"hgvs_p": "p.Trp194Cys",
"transcript": "ENST00000940471.1",
"protein_id": "ENSP00000610530.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 260,
"cds_start": 582,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940471.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.579G>C",
"hgvs_p": "p.Trp193Cys",
"transcript": "ENST00000896615.1",
"protein_id": "ENSP00000566674.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 259,
"cds_start": 579,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896615.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.555G>C",
"hgvs_p": "p.Trp185Cys",
"transcript": "ENST00000896617.1",
"protein_id": "ENSP00000566676.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 251,
"cds_start": 555,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896617.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.588G>C",
"hgvs_p": "p.Trp196Cys",
"transcript": "ENST00000896616.1",
"protein_id": "ENSP00000566675.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 240,
"cds_start": 588,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896616.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.420G>C",
"hgvs_p": "p.Trp140Cys",
"transcript": "ENST00000896618.1",
"protein_id": "ENSP00000566677.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 206,
"cds_start": 420,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896618.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.378G>C",
"hgvs_p": "p.Trp126Cys",
"transcript": "ENST00000896619.1",
"protein_id": "ENSP00000566678.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 192,
"cds_start": 378,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896619.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.201G>C",
"hgvs_p": "p.Trp67Cys",
"transcript": "ENST00000940472.1",
"protein_id": "ENSP00000610531.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 133,
"cds_start": 201,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940472.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.717G>C",
"hgvs_p": "p.Trp239Cys",
"transcript": "XM_011530229.3",
"protein_id": "XP_011528531.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 305,
"cds_start": 717,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530229.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "XM_011530230.3",
"protein_id": "XP_011528532.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 267,
"cds_start": 603,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530230.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.378G>C",
"hgvs_p": "p.Trp126Cys",
"transcript": "XM_011530231.4",
"protein_id": "XP_011528533.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 192,
"cds_start": 378,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530231.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.297G>C",
"hgvs_p": "p.Trp99Cys",
"transcript": "XM_005261638.5",
"protein_id": "XP_005261695.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 165,
"cds_start": 297,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261638.5"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"hgvs_c": "c.297G>C",
"hgvs_p": "p.Trp99Cys",
"transcript": "XM_011530232.2",
"protein_id": "XP_011528534.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 165,
"cds_start": 297,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
{
"aa_ref": "W",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 7,
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"feature": "XM_047441411.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
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"gene_symbol": "PMM1",
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"biotype": "retained_intron",
"feature": "ENST00000463617.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 8,
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"gene_symbol": "PMM1",
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"hgvs_c": "n.988G>C",
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"transcript": "ENST00000472620.5",
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"feature": "ENST00000472620.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 5,
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"gene_symbol": "PMM1",
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"hgvs_c": "n.1404G>C",
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"transcript": "ENST00000482178.5",
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"feature": "ENST00000482178.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 7,
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"gene_symbol": "PMM1",
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"hgvs_c": "n.823G>C",
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"transcript": "ENST00000485648.5",
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"feature": "ENST00000485648.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "CSDC2",
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"hgvs_c": "c.*2991C>G",
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"transcript": "ENST00000949647.1",
"protein_id": "ENSP00000619706.1",
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"biotype": "protein_coding",
"feature": "ENST00000949647.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CSDC2",
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"hgvs_c": "c.*410C>G",
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"transcript": "ENST00000460790.1",
"protein_id": "ENSP00000417127.1",
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"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460790.1"
}
],
"gene_symbol": "PMM1",
"gene_hgnc_id": 9114,
"dbsnp": "rs200306844",
"frequency_reference_population": 0.0004878097,
"hom_count_reference_population": 0,
"allele_count_reference_population": 787,
"gnomad_exomes_af": 0.00050714,
"gnomad_genomes_af": 0.000302234,
"gnomad_exomes_ac": 741,
"gnomad_genomes_ac": 46,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9611152410507202,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.802,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.988,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.347,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002676.3",
"gene_symbol": "PMM1",
"hgnc_id": 9114,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.588G>C",
"hgvs_p": "p.Trp196Cys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000460790.1",
"gene_symbol": "CSDC2",
"hgnc_id": 30359,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*410C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}