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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: X-119663552-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=119663552&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 119663552,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015129.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "NM_145799.4",
"protein_id": "NP_665798.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 427,
"cds_start": 271,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "ENST00000394610.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145799.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "ENST00000394610.7",
"protein_id": "ENSP00000378108.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 427,
"cds_start": 271,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "NM_145799.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394610.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "ENST00000343984.5",
"protein_id": "ENSP00000341524.5",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 434,
"cds_start": 271,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343984.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "ENST00000354228.8",
"protein_id": "ENSP00000346169.4",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 429,
"cds_start": 271,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354228.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "ENST00000360156.11",
"protein_id": "ENSP00000353278.7",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 427,
"cds_start": 271,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360156.11"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "ENST00000489216.5",
"protein_id": "ENSP00000418715.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 427,
"cds_start": 271,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489216.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.361A>T",
"hgvs_p": "p.Ser121Cys",
"transcript": "ENST00000948509.1",
"protein_id": "ENSP00000618568.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 457,
"cds_start": 361,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948509.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "NM_015129.6",
"protein_id": "NP_055944.2",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 434,
"cds_start": 271,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015129.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "NM_001410710.1",
"protein_id": "NP_001397639.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 431,
"cds_start": 271,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410710.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "ENST00000354416.7",
"protein_id": "ENSP00000346397.3",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 431,
"cds_start": 271,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354416.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "NM_145802.4",
"protein_id": "NP_665801.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 429,
"cds_start": 271,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145802.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "NM_145800.4",
"protein_id": "NP_665799.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 427,
"cds_start": 271,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145800.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "ENST00000867103.1",
"protein_id": "ENSP00000537162.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 427,
"cds_start": 271,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867103.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "ENST00000867104.1",
"protein_id": "ENSP00000537163.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 427,
"cds_start": 271,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867104.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "ENST00000948508.1",
"protein_id": "ENSP00000618567.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 427,
"cds_start": 271,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948508.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "ENST00000948510.1",
"protein_id": "ENSP00000618569.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 427,
"cds_start": 271,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948510.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.268A>T",
"hgvs_p": "p.Ser90Cys",
"transcript": "ENST00000913204.1",
"protein_id": "ENSP00000583263.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 426,
"cds_start": 268,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913204.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.268A>T",
"hgvs_p": "p.Ser90Cys",
"transcript": "ENST00000913205.1",
"protein_id": "ENSP00000583264.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 426,
"cds_start": 268,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913205.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "XM_011531317.4",
"protein_id": "XP_011529619.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 526,
"cds_start": 271,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531317.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "XM_005262400.5",
"protein_id": "XP_005262457.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 491,
"cds_start": 271,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262400.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "XM_011531318.4",
"protein_id": "XP_011529620.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 469,
"cds_start": 271,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531318.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys",
"transcript": "XM_047441938.1",
"protein_id": "XP_047297894.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 275,
"cds_start": 271,
"cds_end": null,
"cds_length": 828,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441938.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "c.31-13454A>T",
"hgvs_p": null,
"transcript": "ENST00000913206.1",
"protein_id": "ENSP00000583265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913206.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"hgvs_c": "n.271A>T",
"hgvs_p": null,
"transcript": "ENST00000460411.5",
"protein_id": "ENSP00000435818.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460411.5"
}
],
"gene_symbol": "SEPTIN6",
"gene_hgnc_id": 15848,
"dbsnp": "rs1000835123",
"frequency_reference_population": 0.000006390949,
"hom_count_reference_population": 6,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000639095,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7269210815429688,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.426,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1335,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.668,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015129.6",
"gene_symbol": "SEPTIN6",
"hgnc_id": 15848,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.271A>T",
"hgvs_p": "p.Ser91Cys"
}
],
"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
}