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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-32389644-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=32389644&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 32389644,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_004006.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "NM_004006.3",
"protein_id": "NP_003997.2",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 3685,
"cds_start": 4375,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "ENST00000357033.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "ENST00000357033.9",
"protein_id": "ENSP00000354923.3",
"transcript_support_level": 1,
"aa_start": 1459,
"aa_end": null,
"aa_length": 3685,
"cds_start": 4375,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "NM_004006.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4363C>T",
"hgvs_p": "p.Arg1455*",
"transcript": "NM_004009.3",
"protein_id": "NP_004000.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 3681,
"cds_start": 4363,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 4626,
"cdna_end": null,
"cdna_length": 14000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4363C>T",
"hgvs_p": "p.Arg1455*",
"transcript": "ENST00000378677.6",
"protein_id": "ENSP00000367948.2",
"transcript_support_level": 5,
"aa_start": 1455,
"aa_end": null,
"aa_length": 3681,
"cds_start": 4363,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 4558,
"cdna_end": null,
"cdna_length": 13932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4351C>T",
"hgvs_p": "p.Arg1451*",
"transcript": "NM_000109.4",
"protein_id": "NP_000100.3",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 3677,
"cds_start": 4351,
"cds_end": null,
"cds_length": 11034,
"cdna_start": 4474,
"cdna_end": null,
"cdna_length": 13854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4006C>T",
"hgvs_p": "p.Arg1336*",
"transcript": "NM_004010.3",
"protein_id": "NP_004001.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 3562,
"cds_start": 4006,
"cds_end": null,
"cds_length": 10689,
"cdna_start": 4709,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118*",
"transcript": "NM_004011.4",
"protein_id": "NP_004002.3",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 2344,
"cds_start": 352,
"cds_end": null,
"cds_length": 7035,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115*",
"transcript": "NM_004012.4",
"protein_id": "NP_004003.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 2341,
"cds_start": 343,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 9894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115*",
"transcript": "ENST00000619831.5",
"protein_id": "ENSP00000479270.2",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 2341,
"cds_start": 343,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 9903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_006724468.3",
"protein_id": "XP_006724531.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 3703,
"cds_start": 4375,
"cds_end": null,
"cds_length": 11112,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 13960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4351C>T",
"hgvs_p": "p.Arg1451*",
"transcript": "XM_006724469.4",
"protein_id": "XP_006724532.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 3695,
"cds_start": 4351,
"cds_end": null,
"cds_length": 11088,
"cdna_start": 4474,
"cdna_end": null,
"cdna_length": 13822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_006724470.4",
"protein_id": "XP_006724533.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 3690,
"cds_start": 4375,
"cds_end": null,
"cds_length": 11073,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 13921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_017029328.2",
"protein_id": "XP_016884817.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 3672,
"cds_start": 4375,
"cds_end": null,
"cds_length": 11019,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 13953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_011545467.2",
"protein_id": "XP_011543769.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 3662,
"cds_start": 4375,
"cds_end": null,
"cds_length": 10989,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 13837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_006724473.3",
"protein_id": "XP_006724536.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 3657,
"cds_start": 4375,
"cds_end": null,
"cds_length": 10974,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 13822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_006724474.4",
"protein_id": "XP_006724537.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 3593,
"cds_start": 4375,
"cds_end": null,
"cds_length": 10782,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 13630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_006724475.3",
"protein_id": "XP_006724538.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 3575,
"cds_start": 4375,
"cds_end": null,
"cds_length": 10728,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 13662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_011545468.3",
"protein_id": "XP_011543770.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 3295,
"cds_start": 4375,
"cds_end": null,
"cds_length": 9888,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 10595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_017029329.2",
"protein_id": "XP_016884818.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 2166,
"cds_start": 4375,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 4612,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_017029330.3",
"protein_id": "XP_016884819.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 2160,
"cds_start": 4375,
"cds_end": null,
"cds_length": 6483,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 10835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_011545469.2",
"protein_id": "XP_011543771.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1915,
"cds_start": 4375,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 6460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*",
"transcript": "XM_047441889.1",
"protein_id": "XP_047297845.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1874,
"cds_start": 4375,
"cds_end": null,
"cds_length": 5625,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.94-24445C>T",
"hgvs_p": null,
"transcript": "ENST00000420596.5",
"protein_id": "ENSP00000399897.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": -4,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.94-24934C>T",
"hgvs_p": null,
"transcript": "ENST00000448370.5",
"protein_id": "ENSP00000388559.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": -4,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "n.336-172581C>T",
"hgvs_p": null,
"transcript": "ENST00000488902.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"dbsnp": "rs398123953",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.786,
"phylop100way_prediction": "Pathogenic",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_004006.3",
"gene_symbol": "DMD",
"hgnc_id": 2928,
"effects": [
"stop_gained"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.4375C>T",
"hgvs_p": "p.Arg1459*"
}
],
"clinvar_disease": "Becker muscular dystrophy,Cardiomyopathy,Duchenne muscular dystrophy,Dystrophin deficiency,Neuromuscular disease caused by qualitative or quantitative defects of dystrophin,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Duchenne muscular dystrophy|not provided|Neuromuscular disease caused by qualitative or quantitative defects of dystrophin|Becker muscular dystrophy;Duchenne muscular dystrophy;Cardiomyopathy;Dystrophin deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}