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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: 8-74361975-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=74361975&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 74361975,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000220822.12",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.579delA",
"hgvs_p": "p.Lys193fs",
"transcript": "NM_018972.4",
"protein_id": "NP_061845.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 358,
"cds_start": 579,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": "ENST00000220822.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.579delA",
"hgvs_p": "p.Lys193fs",
"transcript": "ENST00000220822.12",
"protein_id": "ENSP00000220822.7",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 358,
"cds_start": 579,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": "NM_018972.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.447delA",
"hgvs_p": "p.Lys149fs",
"transcript": "ENST00000434412.3",
"protein_id": "ENSP00000417006.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 314,
"cds_start": 447,
"cds_end": null,
"cds_length": 945,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.579delA",
"hgvs_p": "p.Lys193fs",
"transcript": "ENST00000675463.1",
"protein_id": "ENSP00000502327.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 384,
"cds_start": 579,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.579delA",
"hgvs_p": "p.Lys193fs",
"transcript": "ENST00000676112.1",
"protein_id": "ENSP00000502295.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 380,
"cds_start": 579,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.579delA",
"hgvs_p": "p.Lys193fs",
"transcript": "ENST00000675165.1",
"protein_id": "ENSP00000502612.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 357,
"cds_start": 579,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.531delA",
"hgvs_p": "p.Lys177fs",
"transcript": "ENST00000676443.1",
"protein_id": "ENSP00000501769.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 342,
"cds_start": 531,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.579delA",
"hgvs_p": "p.Lys193fs",
"transcript": "ENST00000674710.1",
"protein_id": "ENSP00000502762.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 307,
"cds_start": 579,
"cds_end": null,
"cds_length": 924,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.405delA",
"hgvs_p": "p.Lys135fs",
"transcript": "NM_001362930.2",
"protein_id": "NP_001349859.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 300,
"cds_start": 405,
"cds_end": null,
"cds_length": 903,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.405delA",
"hgvs_p": "p.Lys135fs",
"transcript": "ENST00000675928.1",
"protein_id": "ENSP00000501568.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 300,
"cds_start": 405,
"cds_end": null,
"cds_length": 903,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.579delA",
"hgvs_p": "p.Lys193fs",
"transcript": "ENST00000675999.1",
"protein_id": "ENSP00000502572.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 295,
"cds_start": 579,
"cds_end": null,
"cds_length": 888,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.375delA",
"hgvs_p": "p.Lys125fs",
"transcript": "NM_001040875.4",
"protein_id": "NP_001035808.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 290,
"cds_start": 375,
"cds_end": null,
"cds_length": 873,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.375delA",
"hgvs_p": "p.Lys125fs",
"transcript": "ENST00000674865.1",
"protein_id": "ENSP00000502437.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 290,
"cds_start": 375,
"cds_end": null,
"cds_length": 873,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.375delA",
"hgvs_p": "p.Lys125fs",
"transcript": "ENST00000675944.1",
"protein_id": "ENSP00000502673.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 290,
"cds_start": 375,
"cds_end": null,
"cds_length": 873,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.579delA",
"hgvs_p": "p.Lys193fs",
"transcript": "NM_001362931.2",
"protein_id": "NP_001349860.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 263,
"cds_start": 579,
"cds_end": null,
"cds_length": 792,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.579delA",
"hgvs_p": "p.Lys193fs",
"transcript": "ENST00000676207.1",
"protein_id": "ENSP00000502638.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 263,
"cds_start": 579,
"cds_end": null,
"cds_length": 792,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.273delA",
"hgvs_p": "p.Lys91fs",
"transcript": "ENST00000674973.1",
"protein_id": "ENSP00000502447.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 256,
"cds_start": 273,
"cds_end": null,
"cds_length": 771,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.252delA",
"hgvs_p": "p.Lys84fs",
"transcript": "NM_001362929.2",
"protein_id": "NP_001349858.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 249,
"cds_start": 252,
"cds_end": null,
"cds_length": 750,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.252delA",
"hgvs_p": "p.Lys84fs",
"transcript": "NM_001362932.2",
"protein_id": "NP_001349861.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 249,
"cds_start": 252,
"cds_end": null,
"cds_length": 750,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.252delA",
"hgvs_p": "p.Lys84fs",
"transcript": "ENST00000674612.1",
"protein_id": "ENSP00000501864.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 249,
"cds_start": 252,
"cds_end": null,
"cds_length": 750,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.252delA",
"hgvs_p": "p.Lys84fs",
"transcript": "ENST00000674806.1",
"protein_id": "ENSP00000502637.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 249,
"cds_start": 252,
"cds_end": null,
"cds_length": 750,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.252delA",
"hgvs_p": "p.Lys84fs",
"transcript": "ENST00000675220.1",
"protein_id": "ENSP00000502588.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 249,
"cds_start": 252,
"cds_end": null,
"cds_length": 750,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"transcript": "ENST00000524195.2",
"protein_id": "ENSP00000502308.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
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"cds_length": 378,
"cdna_start": null,
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"cdna_length": 541,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.165+10657delA",
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"transcript": "ENST00000523640.2",
"protein_id": "ENSP00000502017.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": -4,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"dbsnp": "rs1060500979",
"frequency_reference_population": 7.1068456e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.10685e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.763,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.19,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000220822.12",
"gene_symbol": "GDAP1",
"hgnc_id": 15968,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.579delA",
"hgvs_p": "p.Lys193fs"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2K,Charcot-Marie-Tooth disease type 4A",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2K",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}