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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: 9-128633314-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128633314&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128633314,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000372739.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7414C>T",
"hgvs_p": "p.Arg2472Cys",
"transcript": "NM_001130438.3",
"protein_id": "NP_001123910.1",
"transcript_support_level": null,
"aa_start": 2472,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7414,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7527,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": "ENST00000372739.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7414C>T",
"hgvs_p": "p.Arg2472Cys",
"transcript": "ENST00000372739.7",
"protein_id": "ENSP00000361824.4",
"transcript_support_level": 1,
"aa_start": 2472,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7414,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7527,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": "NM_001130438.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7399C>T",
"hgvs_p": "p.Arg2467Cys",
"transcript": "ENST00000372731.8",
"protein_id": "ENSP00000361816.4",
"transcript_support_level": 1,
"aa_start": 2467,
"aa_end": null,
"aa_length": 2472,
"cds_start": 7399,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 7541,
"cdna_end": null,
"cdna_length": 7889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7339C>T",
"hgvs_p": "p.Arg2447Cys",
"transcript": "ENST00000358161.9",
"protein_id": "ENSP00000350882.6",
"transcript_support_level": 1,
"aa_start": 2447,
"aa_end": null,
"aa_length": 2452,
"cds_start": 7339,
"cds_end": null,
"cds_length": 7359,
"cdna_start": 7446,
"cdna_end": null,
"cdna_length": 7794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7513C>T",
"hgvs_p": "p.Arg2505Cys",
"transcript": "NM_001375318.1",
"protein_id": "NP_001362247.1",
"transcript_support_level": null,
"aa_start": 2505,
"aa_end": null,
"aa_length": 2510,
"cds_start": 7513,
"cds_end": null,
"cds_length": 7533,
"cdna_start": 8256,
"cdna_end": null,
"cdna_length": 8604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7501C>T",
"hgvs_p": "p.Arg2501Cys",
"transcript": "NM_001375310.1",
"protein_id": "NP_001362239.1",
"transcript_support_level": null,
"aa_start": 2501,
"aa_end": null,
"aa_length": 2506,
"cds_start": 7501,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7614,
"cdna_end": null,
"cdna_length": 7962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7501C>T",
"hgvs_p": "p.Arg2501Cys",
"transcript": "ENST00000704202.1",
"protein_id": "ENSP00000515764.1",
"transcript_support_level": null,
"aa_start": 2501,
"aa_end": null,
"aa_length": 2506,
"cds_start": 7501,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7611,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7477C>T",
"hgvs_p": "p.Arg2493Cys",
"transcript": "NM_001363759.2",
"protein_id": "NP_001350688.1",
"transcript_support_level": null,
"aa_start": 2493,
"aa_end": null,
"aa_length": 2498,
"cds_start": 7477,
"cds_end": null,
"cds_length": 7497,
"cdna_start": 7590,
"cdna_end": null,
"cdna_length": 7938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7477C>T",
"hgvs_p": "p.Arg2493Cys",
"transcript": "ENST00000630866.2",
"protein_id": "ENSP00000487444.1",
"transcript_support_level": 5,
"aa_start": 2493,
"aa_end": null,
"aa_length": 2498,
"cds_start": 7477,
"cds_end": null,
"cds_length": 7497,
"cdna_start": 7587,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7462C>T",
"hgvs_p": "p.Arg2488Cys",
"transcript": "NM_001438445.1",
"protein_id": "NP_001425374.1",
"transcript_support_level": null,
"aa_start": 2488,
"aa_end": null,
"aa_length": 2493,
"cds_start": 7462,
"cds_end": null,
"cds_length": 7482,
"cdna_start": 7575,
"cdna_end": null,
"cdna_length": 7923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7450C>T",
"hgvs_p": "p.Arg2484Cys",
"transcript": "NM_001375312.2",
"protein_id": "NP_001362241.2",
"transcript_support_level": null,
"aa_start": 2484,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7450,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 8193,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7450C>T",
"hgvs_p": "p.Arg2484Cys",
"transcript": "NM_001438440.1",
"protein_id": "NP_001425369.1",
"transcript_support_level": null,
"aa_start": 2484,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7450,
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"cds_length": 7470,
"cdna_start": 7578,
"cdna_end": null,
"cdna_length": 7926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7450C>T",
"hgvs_p": "p.Arg2484Cys",
"transcript": "ENST00000627441.3",
"protein_id": "ENSP00000486547.2",
"transcript_support_level": 2,
"aa_start": 2484,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7450,
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"cds_length": 7470,
"cdna_start": 7575,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
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"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7450C>T",
"hgvs_p": "p.Arg2484Cys",
"transcript": "ENST00000704203.1",
"protein_id": "ENSP00000515765.1",
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"aa_start": 2484,
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"cdna_start": 7944,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7414C>T",
"hgvs_p": "p.Arg2472Cys",
"transcript": "NM_001375311.2",
"protein_id": "NP_001362240.1",
"transcript_support_level": null,
"aa_start": 2472,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7414,
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"cds_length": 7434,
"cdna_start": 8142,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7414C>T",
"hgvs_p": "p.Arg2472Cys",
"transcript": "ENST00000706487.1",
"protein_id": "ENSP00000516412.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7402C>T",
"hgvs_p": "p.Arg2468Cys",
"transcript": "NM_001438444.1",
"protein_id": "NP_001425373.1",
"transcript_support_level": null,
"aa_start": 2468,
"aa_end": null,
"aa_length": 2473,
"cds_start": 7402,
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"cds_length": 7422,
"cdna_start": 7515,
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"cdna_length": 7863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7399C>T",
"hgvs_p": "p.Arg2467Cys",
"transcript": "NM_003127.4",
"protein_id": "NP_003118.2",
"transcript_support_level": null,
"aa_start": 2467,
"aa_end": null,
"aa_length": 2472,
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"cdna_start": 7512,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7396C>T",
"hgvs_p": "p.Arg2466Cys",
"transcript": "NM_001375313.1",
"protein_id": "NP_001362242.1",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7381C>T",
"hgvs_p": "p.Arg2461Cys",
"transcript": "NM_001438443.1",
"protein_id": "NP_001425372.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 7381,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7354C>T",
"hgvs_p": "p.Arg2452Cys",
"transcript": "NM_001363765.2",
"protein_id": "NP_001350694.1",
"transcript_support_level": null,
"aa_start": 2452,
"aa_end": null,
"aa_length": 2457,
"cds_start": 7354,
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"cdna_start": 7467,
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"cdna_length": 7815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7354C>T",
"hgvs_p": "p.Arg2452Cys",
"transcript": "NM_001375314.2",
"protein_id": "NP_001362243.1",
"transcript_support_level": null,
"aa_start": 2452,
"aa_end": null,
"aa_length": 2457,
"cds_start": 7354,
"cds_end": null,
"cds_length": 7374,
"cdna_start": 8082,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
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"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.*335C>T",
"hgvs_p": null,
"transcript": "ENST00000630981.1",
"protein_id": "ENSP00000486605.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": -4,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"dbsnp": "rs759975874",
"frequency_reference_population": 0.000019207535,
"hom_count_reference_population": 1,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.000020525,
"gnomad_genomes_af": 0.00000656521,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8460812568664551,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.444,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.283,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.373,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000372739.7",
"gene_symbol": "SPTAN1",
"hgnc_id": 11273,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7414C>T",
"hgvs_p": "p.Arg2472Cys"
}
],
"clinvar_disease": " 5,Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "not provided|Developmental and epileptic encephalopathy|Developmental and epileptic encephalopathy, 5|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}