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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: 5-36686252-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=36686252&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 36686252,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438458.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "NM_004172.5",
"protein_id": "NP_004163.3",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265113.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004172.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "ENST00000265113.9",
"protein_id": "ENSP00000265113.4",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004172.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265113.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "ENST00000381918.4",
"protein_id": "ENSP00000371343.4",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381918.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1753A>T",
"hgvs_p": "p.Ser585Cys",
"transcript": "NM_001438458.1",
"protein_id": "NP_001425387.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 589,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438458.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1753A>T",
"hgvs_p": "p.Ser585Cys",
"transcript": "ENST00000680232.1",
"protein_id": "ENSP00000506207.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 589,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680232.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1633A>T",
"hgvs_p": "p.Ser545Cys",
"transcript": "ENST00000936089.1",
"protein_id": "ENSP00000606148.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 549,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936089.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "NM_001438454.1",
"protein_id": "NP_001425383.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438454.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "NM_001438455.1",
"protein_id": "NP_001425384.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438455.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "NM_001438456.1",
"protein_id": "NP_001425385.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438456.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "NM_001438457.1",
"protein_id": "NP_001425386.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438457.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "ENST00000679983.1",
"protein_id": "ENSP00000505238.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679983.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "ENST00000679992.1",
"protein_id": "ENSP00000506585.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679992.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "ENST00000680318.1",
"protein_id": "ENSP00000505057.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680318.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "ENST00000858306.1",
"protein_id": "ENSP00000528365.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858306.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "ENST00000858307.1",
"protein_id": "ENSP00000528366.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858307.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1612A>T",
"hgvs_p": "p.Ser538Cys",
"transcript": "ENST00000858308.1",
"protein_id": "ENSP00000528367.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858308.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1477A>T",
"hgvs_p": "p.Ser493Cys",
"transcript": "NM_001166695.3",
"protein_id": "NP_001160167.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 497,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166695.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1477A>T",
"hgvs_p": "p.Ser493Cys",
"transcript": "NM_001438459.1",
"protein_id": "NP_001425388.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 497,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438459.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1477A>T",
"hgvs_p": "p.Ser493Cys",
"transcript": "ENST00000680125.1",
"protein_id": "ENSP00000506424.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 497,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680125.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1477A>T",
"hgvs_p": "p.Ser493Cys",
"transcript": "ENST00000681926.1",
"protein_id": "ENSP00000505850.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 497,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681926.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1477A>T",
"hgvs_p": "p.Ser493Cys",
"transcript": "ENST00000936087.1",
"protein_id": "ENSP00000606146.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 497,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936087.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A3",
"gene_hgnc_id": 10941,
"hgvs_c": "c.1474A>T",
"hgvs_p": "p.Ser492Cys",
"transcript": "NM_001289939.2",
"protein_id": "NP_001276868.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 496,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1491,
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{
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"canonical": false,
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{
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{
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"biotype": "pseudogene",
"feature": "ENST00000510740.2"
},
{
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],
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{
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],
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{
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{
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],
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{
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"downstream_gene_variant"
],
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"gene_symbol": "SLC1A3",
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"biotype": "retained_intron",
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],
"gene_symbol": "SLC1A3",
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"dbsnp": "rs752803485",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09686189889907837,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.0828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.277,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001438458.1",
"gene_symbol": "SLC1A3",
"hgnc_id": 10941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1753A>T",
"hgvs_p": "p.Ser585Cys"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000510740.2",
"gene_symbol": "SLC1A3-AS1",
"hgnc_id": 56374,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.106-17541T>A",
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}
],
"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
}