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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: 10-68416809-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68416809&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68416809,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001080449.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.3014C>T",
"hgvs_p": "p.Thr1005Ile",
"transcript": "NM_001080449.3",
"protein_id": "NP_001073918.2",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1060,
"cds_start": 3014,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 3123,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": "ENST00000358410.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080449.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.3014C>T",
"hgvs_p": "p.Thr1005Ile",
"transcript": "ENST00000358410.8",
"protein_id": "ENSP00000351185.3",
"transcript_support_level": 1,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1060,
"cds_start": 3014,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 3123,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": "NM_001080449.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358410.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"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": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2300C>T",
"hgvs_p": "p.Thr767Ile",
"transcript": "ENST00000551118.6",
"protein_id": "ENSP00000450393.3",
"transcript_support_level": 5,
"aa_start": 767,
"aa_end": null,
"aa_length": 867,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551118.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Thr326Ile",
"transcript": "ENST00000440722.2",
"protein_id": "ENSP00000389713.1",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 374,
"cds_start": 977,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440722.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.3107C>T",
"hgvs_p": "p.Thr1036Ile",
"transcript": "ENST00000936797.1",
"protein_id": "ENSP00000606856.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3195,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936797.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2909C>T",
"hgvs_p": "p.Thr970Ile",
"transcript": "ENST00000936795.1",
"protein_id": "ENSP00000606854.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2909,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 3004,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936795.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2882C>T",
"hgvs_p": "p.Thr961Ile",
"transcript": "ENST00000936796.1",
"protein_id": "ENSP00000606855.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2882,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2973,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936796.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2831C>T",
"hgvs_p": "p.Thr944Ile",
"transcript": "ENST00000936799.1",
"protein_id": "ENSP00000606858.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 999,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936799.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2783C>T",
"hgvs_p": "p.Thr928Ile",
"transcript": "ENST00000936792.1",
"protein_id": "ENSP00000606851.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 983,
"cds_start": 2783,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 4036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936792.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2744C>T",
"hgvs_p": "p.Thr915Ile",
"transcript": "ENST00000936791.1",
"protein_id": "ENSP00000606850.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 970,
"cds_start": 2744,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2855,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936791.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2693C>T",
"hgvs_p": "p.Thr898Ile",
"transcript": "ENST00000936794.1",
"protein_id": "ENSP00000606853.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 953,
"cds_start": 2693,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936794.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2600C>T",
"hgvs_p": "p.Thr867Ile",
"transcript": "ENST00000936793.1",
"protein_id": "ENSP00000606852.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 922,
"cds_start": 2600,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2709,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936793.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2576C>T",
"hgvs_p": "p.Thr859Ile",
"transcript": "ENST00000941878.1",
"protein_id": "ENSP00000611937.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 914,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2687,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941878.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2525C>T",
"hgvs_p": "p.Thr842Ile",
"transcript": "ENST00000936790.1",
"protein_id": "ENSP00000606849.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 897,
"cds_start": 2525,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936790.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2513C>T",
"hgvs_p": "p.Thr838Ile",
"transcript": "ENST00000936800.1",
"protein_id": "ENSP00000606859.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 893,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 3724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936800.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2318C>T",
"hgvs_p": "p.Thr773Ile",
"transcript": "ENST00000936798.1",
"protein_id": "ENSP00000606857.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 828,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936798.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2300C>T",
"hgvs_p": "p.Thr767Ile",
"transcript": "ENST00000936801.1",
"protein_id": "ENSP00000606860.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 822,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936801.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.3104C>T",
"hgvs_p": "p.Thr1035Ile",
"transcript": "XM_006717680.3",
"protein_id": "XP_006717743.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1090,
"cds_start": 3104,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 3503,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717680.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.2342C>T",
"hgvs_p": "p.Thr781Ile",
"transcript": "XM_017015799.1",
"protein_id": "XP_016871288.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 836,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015799.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1934C>T",
"hgvs_p": "p.Thr645Ile",
"transcript": "XM_011539417.1",
"protein_id": "XP_011537719.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 700,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.*835C>T",
"hgvs_p": null,
"transcript": "ENST00000399179.6",
"protein_id": "ENSP00000382132.3",
"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": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000399179.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.437C>T",
"hgvs_p": null,
"transcript": "ENST00000550545.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_length": 560,
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"biotype": "retained_intron",
"feature": "ENST00000550545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.2988C>T",
"hgvs_p": null,
"transcript": "NR_102264.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_102264.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.*835C>T",
"hgvs_p": null,
"transcript": "ENST00000399179.6",
"protein_id": "ENSP00000382132.3",
"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": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000399179.6"
}
],
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"dbsnp": "rs376624048",
"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": 0.9800071716308594,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.981,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9895,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.411,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001080449.3",
"gene_symbol": "DNA2",
"hgnc_id": 2939,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3014C>T",
"hgvs_p": "p.Thr1005Ile"
}
],
"clinvar_disease": "Mitochondrial DNA deletion syndrome with progressive myopathy",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Mitochondrial DNA deletion syndrome with progressive myopathy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}