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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: 4-989824-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=989824&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 989824,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022042.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A1",
"gene_hgnc_id": 10993,
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Arg372Leu",
"transcript": "NM_022042.4",
"protein_id": "NP_071325.2",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 701,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398516.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022042.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A1",
"gene_hgnc_id": 10993,
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Arg372Leu",
"transcript": "ENST00000398516.3",
"protein_id": "ENSP00000381528.2",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 701,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022042.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398516.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A1",
"gene_hgnc_id": 10993,
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Arg372Leu",
"transcript": "ENST00000361661.6",
"protein_id": "ENSP00000354721.2",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 701,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361661.6"
},
{
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "NM_000203.5",
"protein_id": "NP_000194.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000514224.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000203.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "ENST00000514224.2",
"protein_id": "ENSP00000425081.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000203.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514224.2"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "ENST00000247933.9",
"protein_id": "ENSP00000247933.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000247933.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC26A1",
"gene_hgnc_id": 10993,
"hgvs_c": "c.576+1304G>T",
"hgvs_p": null,
"transcript": "ENST00000398520.6",
"protein_id": "ENSP00000381532.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398520.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A1",
"gene_hgnc_id": 10993,
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Arg372Leu",
"transcript": "NM_213613.4",
"protein_id": "NP_998778.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 701,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213613.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A1",
"gene_hgnc_id": 10993,
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Arg372Leu",
"transcript": "ENST00000871988.1",
"protein_id": "ENSP00000542047.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 701,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871988.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A1",
"gene_hgnc_id": 10993,
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Arg372Leu",
"transcript": "ENST00000871989.1",
"protein_id": "ENSP00000542048.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 701,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871989.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A1",
"gene_hgnc_id": 10993,
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Arg372Leu",
"transcript": "ENST00000871990.1",
"protein_id": "ENSP00000542049.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 701,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871990.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A1",
"gene_hgnc_id": 10993,
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Arg372Leu",
"transcript": "ENST00000962470.1",
"protein_id": "ENSP00000632529.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 701,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962470.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "ENST00000962389.1",
"protein_id": "ENSP00000632448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962389.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "ENST00000871737.1",
"protein_id": "ENSP00000541796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": null,
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"cds_length": 2001,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871737.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "ENST00000962388.1",
"protein_id": "ENSP00000632447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962388.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "ENST00000871736.1",
"protein_id": "ENSP00000541795.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 651,
"cds_start": null,
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"cds_length": 1956,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871736.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "ENST00000871734.1",
"protein_id": "ENSP00000541793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871734.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "ENST00000871738.1",
"protein_id": "ENSP00000541797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": null,
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"cds_length": 1905,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871738.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "ENST00000871735.1",
"protein_id": "ENSP00000541794.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871735.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.299+1875C>A",
"hgvs_p": null,
"transcript": "ENST00000871739.1",
"protein_id": "ENSP00000541798.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000871739.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IDUA",
"gene_hgnc_id": 5391,
"hgvs_c": "c.158+2582C>A",
"hgvs_p": null,
"transcript": "ENST00000962390.1",
"protein_id": "ENSP00000632449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC26A1",
"gene_hgnc_id": 10993,
"hgvs_c": "c.576+1304G>T",
"hgvs_p": null,
"transcript": "NM_134425.4",
"protein_id": "NP_602297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134425.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
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{
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{
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{
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"biotype": "pseudogene",
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],
"gene_symbol": "SLC26A1",
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"dbsnp": "rs73219719",
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 66,
"gnomad_genomes_ac": 3,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7714924812316895,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.409,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1263,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.044,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"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": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022042.4",
"gene_symbol": "SLC26A1",
"hgnc_id": 10993,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Arg372Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000203.5",
"gene_symbol": "IDUA",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Hyperoxaluria,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hyperoxaluria|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}