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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-31134141-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=31134141&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 31134141,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000357033.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10975G>A",
"hgvs_p": "p.Val3659Met",
"transcript": "NM_004006.3",
"protein_id": "NP_003997.2",
"transcript_support_level": null,
"aa_start": 3659,
"aa_end": null,
"aa_length": 3685,
"cds_start": 10975,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 11212,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "ENST00000357033.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10975G>A",
"hgvs_p": "p.Val3659Met",
"transcript": "ENST00000357033.9",
"protein_id": "ENSP00000354923.3",
"transcript_support_level": 1,
"aa_start": 3659,
"aa_end": null,
"aa_length": 3685,
"cds_start": 10975,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 11212,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "NM_004006.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1771G>A",
"hgvs_p": "p.Val591Met",
"transcript": "ENST00000378723.7",
"protein_id": "ENSP00000367997.3",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 635,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Val578Met",
"transcript": "ENST00000361471.8",
"protein_id": "ENSP00000354464.4",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 622,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1771G>A",
"hgvs_p": "p.Val591Met",
"transcript": "ENST00000378702.8",
"protein_id": "ENSP00000367974.4",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 617,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1441G>A",
"hgvs_p": "p.Val481Met",
"transcript": "ENST00000378680.6",
"protein_id": "ENSP00000367951.2",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 525,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10963G>A",
"hgvs_p": "p.Val3655Met",
"transcript": "NM_004009.3",
"protein_id": "NP_004000.1",
"transcript_support_level": null,
"aa_start": 3655,
"aa_end": null,
"aa_length": 3681,
"cds_start": 10963,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 11226,
"cdna_end": null,
"cdna_length": 14000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10963G>A",
"hgvs_p": "p.Val3655Met",
"transcript": "ENST00000378677.6",
"protein_id": "ENSP00000367948.2",
"transcript_support_level": 5,
"aa_start": 3655,
"aa_end": null,
"aa_length": 3681,
"cds_start": 10963,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 11158,
"cdna_end": null,
"cdna_length": 13932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10951G>A",
"hgvs_p": "p.Val3651Met",
"transcript": "NM_000109.4",
"protein_id": "NP_000100.3",
"transcript_support_level": null,
"aa_start": 3651,
"aa_end": null,
"aa_length": 3677,
"cds_start": 10951,
"cds_end": null,
"cds_length": 11034,
"cdna_start": 11074,
"cdna_end": null,
"cdna_length": 13854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.10606G>A",
"hgvs_p": "p.Val3536Met",
"transcript": "NM_004010.3",
"protein_id": "NP_004001.1",
"transcript_support_level": null,
"aa_start": 3536,
"aa_end": null,
"aa_length": 3562,
"cds_start": 10606,
"cds_end": null,
"cds_length": 10689,
"cdna_start": 11309,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6952G>A",
"hgvs_p": "p.Val2318Met",
"transcript": "NM_004011.4",
"protein_id": "NP_004002.3",
"transcript_support_level": null,
"aa_start": 2318,
"aa_end": null,
"aa_length": 2344,
"cds_start": 6952,
"cds_end": null,
"cds_length": 7035,
"cdna_start": 6971,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6943G>A",
"hgvs_p": "p.Val2315Met",
"transcript": "NM_004012.4",
"protein_id": "NP_004003.2",
"transcript_support_level": null,
"aa_start": 2315,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6943,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 7114,
"cdna_end": null,
"cdna_length": 9894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6943G>A",
"hgvs_p": "p.Val2315Met",
"transcript": "ENST00000619831.5",
"protein_id": "ENSP00000479270.2",
"transcript_support_level": 5,
"aa_start": 2315,
"aa_end": null,
"aa_length": 2341,
"cds_start": 6943,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 7123,
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"cdna_length": 9903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
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"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.5782G>A",
"hgvs_p": "p.Val1928Met",
"transcript": "ENST00000358062.7",
"protein_id": "ENSP00000350765.3",
"transcript_support_level": 5,
"aa_start": 1928,
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"aa_length": 1972,
"cds_start": 5782,
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"cdna_start": 5782,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3595G>A",
"hgvs_p": "p.Val1199Met",
"transcript": "NM_004021.3",
"protein_id": "NP_004012.2",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3595,
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"cds_length": 3732,
"cdna_start": 4636,
"cdna_end": null,
"cdna_length": 7384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
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"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3595G>A",
"hgvs_p": "p.Val1199Met",
"transcript": "ENST00000474231.5",
"protein_id": "ENSP00000417123.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3556G>A",
"hgvs_p": "p.Val1186Met",
"transcript": "NM_004022.3",
"protein_id": "NP_004013.2",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3556,
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"cds_length": 3693,
"cdna_start": 4597,
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"cdna_length": 7345,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3556G>A",
"hgvs_p": "p.Val1186Met",
"transcript": "ENST00000359836.5",
"protein_id": "ENSP00000352894.1",
"transcript_support_level": 5,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3556,
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"cdna_start": 4597,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3595G>A",
"hgvs_p": "p.Val1199Met",
"transcript": "NM_004013.3",
"protein_id": "NP_004004.2",
"transcript_support_level": null,
"aa_start": 1199,
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},
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3595G>A",
"hgvs_p": "p.Val1199Met",
"transcript": "ENST00000378707.7",
"protein_id": "ENSP00000367979.3",
"transcript_support_level": 5,
"aa_start": 1199,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "DMD",
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"hgvs_c": "c.3556G>A",
"hgvs_p": "p.Val1186Met",
"transcript": "ENST00000684130.1",
"protein_id": "ENSP00000508037.1",
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"aa_end": null,
"aa_length": 1212,
"cds_start": 3556,
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"cdna_start": 4597,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3265G>A",
"hgvs_p": "p.Val1089Met",
"transcript": "NM_004023.3",
"protein_id": "NP_004014.2",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3265,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 4306,
"cdna_end": null,
"cdna_length": 7054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.3265G>A",
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"gene_hgnc_id": 2928,
"hgvs_c": "c.3336-7468G>A",
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"transcript": "ENST00000620040.5",
"protein_id": "ENSP00000478150.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1154,
"cds_start": -4,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
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"cdna_length": 6941,
"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,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "n.114+35302G>A",
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"transcript": "ENST00000481143.2",
"protein_id": null,
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ENSG00000297249",
"gene_hgnc_id": null,
"hgvs_c": "n.227+16287C>T",
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"transcript": "ENST00000746482.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"dbsnp": "rs768532317",
"frequency_reference_population": 0.000008197998,
"hom_count_reference_population": 1,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.000008198,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33247092366218567,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.6895,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.814,
"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": "BP4,BP6,BS2_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000357033.9",
"gene_symbol": "DMD",
"hgnc_id": 2928,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.10975G>A",
"hgvs_p": "p.Val3659Met"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000746482.1",
"gene_symbol": "ENSG00000297249",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.227+16287C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Becker muscular dystrophy,Cardiomyopathy,Cardiovascular phenotype,Duchenne muscular dystrophy,Dystrophin deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "Duchenne muscular dystrophy|not provided|Cardiovascular phenotype|Cardiomyopathy;Duchenne muscular dystrophy;Dystrophin deficiency;Becker muscular dystrophy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}