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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: 17-77498623-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=77498623&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 77498623,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000427177.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1726A>C",
"hgvs_p": "p.Met576Leu",
"transcript": "NM_001113491.2",
"protein_id": "NP_001106963.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 586,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "ENST00000427177.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1726A>C",
"hgvs_p": "p.Met576Leu",
"transcript": "ENST00000427177.6",
"protein_id": "ENSP00000391249.1",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 586,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "NM_001113491.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1672A>C",
"hgvs_p": "p.Met558Leu",
"transcript": "NM_006640.5",
"protein_id": "NP_006631.2",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 568,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 2481,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": "ENST00000329047.13",
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1672A>C",
"hgvs_p": "p.Met558Leu",
"transcript": "ENST00000329047.13",
"protein_id": "ENSP00000329161.8",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 568,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 2481,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": "NM_006640.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1705A>C",
"hgvs_p": "p.Met569Leu",
"transcript": "ENST00000423034.6",
"protein_id": "ENSP00000405877.1",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 579,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1234A>C",
"hgvs_p": "p.Met412Leu",
"transcript": "ENST00000427674.6",
"protein_id": "ENSP00000403194.1",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 422,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.973A>C",
"hgvs_p": "p.Met325Leu",
"transcript": "ENST00000541152.6",
"protein_id": "ENSP00000438089.2",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 335,
"cds_start": 973,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1705A>C",
"hgvs_p": "p.Met569Leu",
"transcript": "NM_001113493.2",
"protein_id": "NP_001106965.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 579,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1669A>C",
"hgvs_p": "p.Met557Leu",
"transcript": "NM_001293695.2",
"protein_id": "NP_001280624.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 567,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1669A>C",
"hgvs_p": "p.Met557Leu",
"transcript": "ENST00000591198.5",
"protein_id": "ENSP00000468406.1",
"transcript_support_level": 2,
"aa_start": 557,
"aa_end": null,
"aa_length": 567,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1234A>C",
"hgvs_p": "p.Met412Leu",
"transcript": "NM_001113492.2",
"protein_id": "NP_001106964.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 422,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1234A>C",
"hgvs_p": "p.Met412Leu",
"transcript": "NM_001113494.1",
"protein_id": "NP_001106966.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 422,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1234A>C",
"hgvs_p": "p.Met412Leu",
"transcript": "ENST00000431235.6",
"protein_id": "ENSP00000406987.2",
"transcript_support_level": 5,
"aa_start": 412,
"aa_end": null,
"aa_length": 422,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1234A>C",
"hgvs_p": "p.Met412Leu",
"transcript": "ENST00000449803.6",
"protein_id": "ENSP00000400181.2",
"transcript_support_level": 2,
"aa_start": 412,
"aa_end": null,
"aa_length": 422,
"cds_start": 1234,
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"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1234A>C",
"hgvs_p": "p.Met412Leu",
"transcript": "ENST00000588690.6",
"protein_id": "ENSP00000468668.1",
"transcript_support_level": 5,
"aa_start": 412,
"aa_end": null,
"aa_length": 422,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1054A>C",
"hgvs_p": "p.Met352Leu",
"transcript": "NM_001293696.2",
"protein_id": "NP_001280625.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 362,
"cds_start": 1054,
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"cdna_start": 1069,
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"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.1054A>C",
"hgvs_p": "p.Met352Leu",
"transcript": "ENST00000585930.5",
"protein_id": "ENSP00000468120.1",
"transcript_support_level": 2,
"aa_start": 352,
"aa_end": null,
"aa_length": 362,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.973A>C",
"hgvs_p": "p.Met325Leu",
"transcript": "NM_001113495.2",
"protein_id": "NP_001106967.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 335,
"cds_start": 973,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.973A>C",
"hgvs_p": "p.Met325Leu",
"transcript": "NM_001113496.2",
"protein_id": "NP_001106968.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 335,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.973A>C",
"hgvs_p": "p.Met325Leu",
"transcript": "NM_001293697.2",
"protein_id": "NP_001280626.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
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"cds_start": 973,
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"cdna_start": 1050,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.973A>C",
"hgvs_p": "p.Met325Leu",
"transcript": "NM_001293698.2",
"protein_id": "NP_001280627.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 335,
"cds_start": 973,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.973A>C",
"hgvs_p": "p.Met325Leu",
"transcript": "ENST00000427180.5",
"protein_id": "ENSP00000504196.1",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 335,
"cds_start": 973,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"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": "SEPTIN9",
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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{
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
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"effects": [
"missense_variant"
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}