← Back to variant description
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: 19-10825186-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10825186&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNM2",
"hgnc_id": 2974,
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Met675Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001005360.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1365,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate B",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2956355810165405,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 870,
"aa_ref": "M",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001005361.3",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Met675Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389253.9",
"protein_coding": true,
"protein_id": "NP_001005361.1",
"strand": true,
"transcript": "NM_001005361.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 870,
"aa_ref": "M",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000389253.9",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Met675Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001005361.3",
"protein_coding": true,
"protein_id": "ENSP00000373905.4",
"strand": true,
"transcript": "ENST00000389253.9",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 870,
"aa_ref": "M",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000355667.11",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Met675Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347890.6",
"strand": true,
"transcript": "ENST00000355667.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 869,
"aa_ref": "M",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000585892.5",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Met675Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468734.1",
"strand": true,
"transcript": "ENST00000585892.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 866,
"aa_ref": "M",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3588,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000359692.10",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2011A>G",
"hgvs_p": "p.Met671Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352721.6",
"strand": true,
"transcript": "ENST00000359692.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 900,
"aa_ref": "M",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3672,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2116,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957427.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2116A>G",
"hgvs_p": "p.Met706Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627486.1",
"strand": true,
"transcript": "ENST00000957427.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 895,
"aa_ref": "M",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3708,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000916585.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Met700Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586644.1",
"strand": true,
"transcript": "ENST00000916585.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 891,
"aa_ref": "M",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2086,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957420.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2086A>G",
"hgvs_p": "p.Met696Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627479.1",
"strand": true,
"transcript": "ENST00000957420.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 879,
"aa_ref": "M",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 2640,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957428.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2053A>G",
"hgvs_p": "p.Met685Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627487.1",
"strand": true,
"transcript": "ENST00000957428.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 876,
"aa_ref": "M",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2631,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000908373.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2041A>G",
"hgvs_p": "p.Met681Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578432.1",
"strand": true,
"transcript": "ENST00000908373.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 875,
"aa_ref": "M",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2041,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000908376.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2041A>G",
"hgvs_p": "p.Met681Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578435.1",
"strand": true,
"transcript": "ENST00000908376.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 875,
"aa_ref": "M",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 2156,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2038,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957426.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Met680Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627485.1",
"strand": true,
"transcript": "ENST00000957426.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 873,
"aa_ref": "M",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3629,
"cdna_start": 2183,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908381.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2032A>G",
"hgvs_p": "p.Met678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578440.1",
"strand": true,
"transcript": "ENST00000908381.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 873,
"aa_ref": "M",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2035,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957430.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2035A>G",
"hgvs_p": "p.Met679Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627489.1",
"strand": true,
"transcript": "ENST00000957430.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 872,
"aa_ref": "M",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3654,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 2619,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957419.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2032A>G",
"hgvs_p": "p.Met678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627478.1",
"strand": true,
"transcript": "ENST00000957419.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 870,
"aa_ref": "M",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001005360.3",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Met675Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005360.1",
"strand": true,
"transcript": "NM_001005360.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 869,
"aa_ref": "M",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001190716.2",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Met675Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177645.1",
"strand": true,
"transcript": "NM_001190716.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 869,
"aa_ref": "M",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 2270,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957413.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Met675Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627472.1",
"strand": true,
"transcript": "ENST00000957413.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 869,
"aa_ref": "M",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 2207,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957416.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2020A>G",
"hgvs_p": "p.Met674Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627475.1",
"strand": true,
"transcript": "ENST00000957416.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 869,
"aa_ref": "M",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 2207,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957417.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2020A>G",
"hgvs_p": "p.Met674Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627476.1",
"strand": true,
"transcript": "ENST00000957417.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 867,
"aa_ref": "M",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 2221,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908375.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Met672Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578434.1",
"strand": true,
"transcript": "ENST00000908375.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 866,
"aa_ref": "M",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001005362.3",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2011A>G",
"hgvs_p": "p.Met671Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005362.1",
"strand": true,
"transcript": "NM_001005362.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 866,
"aa_ref": "M",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_004945.4",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2011A>G",
"hgvs_p": "p.Met671Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004936.2",
"strand": true,
"transcript": "NM_004945.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 866,
"aa_ref": "M",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3013,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000408974.8",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2011A>G",
"hgvs_p": "p.Met671Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386192.3",
"strand": true,
"transcript": "ENST00000408974.8",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 866,
"aa_ref": "M",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908378.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2014A>G",
"hgvs_p": "p.Met672Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578437.1",
"strand": true,
"transcript": "ENST00000908378.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 865,
"aa_ref": "M",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5324,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 2598,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908371.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2011A>G",
"hgvs_p": "p.Met671Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578430.1",
"strand": true,
"transcript": "ENST00000908371.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 865,
"aa_ref": "M",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 2598,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908372.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2011A>G",
"hgvs_p": "p.Met671Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578431.1",
"strand": true,
"transcript": "ENST00000908372.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 865,
"aa_ref": "M",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3670,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 2598,
"cds_start": 2008,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957414.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Met670Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627473.1",
"strand": true,
"transcript": "ENST00000957414.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 865,
"aa_ref": "M",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 2215,
"cds_end": null,
"cds_length": 2598,
"cds_start": 2008,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957415.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Met670Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627474.1",
"strand": true,
"transcript": "ENST00000957415.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 864,
"aa_ref": "M",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3608,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2005,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908380.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2005A>G",
"hgvs_p": "p.Met669Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578439.1",
"strand": true,
"transcript": "ENST00000908380.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 864,
"aa_ref": "M",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3589,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908382.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2011A>G",
"hgvs_p": "p.Met671Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578441.1",
"strand": true,
"transcript": "ENST00000908382.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 863,
"aa_ref": "M",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2592,
"cds_start": 2002,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957422.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2002A>G",
"hgvs_p": "p.Met668Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627481.1",
"strand": true,
"transcript": "ENST00000957422.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "M",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3676,
"cdna_start": 2230,
"cds_end": null,
"cds_length": 2580,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908374.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1990A>G",
"hgvs_p": "p.Met664Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578433.1",
"strand": true,
"transcript": "ENST00000908374.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 858,
"aa_ref": "M",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 2154,
"cds_end": null,
"cds_length": 2577,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908377.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1990A>G",
"hgvs_p": "p.Met664Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578436.1",
"strand": true,
"transcript": "ENST00000908377.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 837,
"aa_ref": "M",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000957423.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1924A>G",
"hgvs_p": "p.Met642Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627482.1",
"strand": true,
"transcript": "ENST00000957423.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 837,
"aa_ref": "M",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 2076,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000957425.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1924A>G",
"hgvs_p": "p.Met642Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627484.1",
"strand": true,
"transcript": "ENST00000957425.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "M",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1873,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957421.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Met625Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627480.1",
"strand": true,
"transcript": "ENST00000957421.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 816,
"aa_ref": "M",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1861,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000908379.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1861A>G",
"hgvs_p": "p.Met621Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578438.1",
"strand": true,
"transcript": "ENST00000908379.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 816,
"aa_ref": "M",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1861,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000908383.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1861A>G",
"hgvs_p": "p.Met621Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578442.1",
"strand": true,
"transcript": "ENST00000908383.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 785,
"aa_ref": "M",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 2204,
"cds_end": null,
"cds_length": 2358,
"cds_start": 2023,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957418.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Met675Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627477.1",
"strand": true,
"transcript": "ENST00000957418.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 772,
"aa_ref": "M",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3013,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1729,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000957429.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1729A>G",
"hgvs_p": "p.Met577Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627488.1",
"strand": true,
"transcript": "ENST00000957429.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 715,
"aa_ref": "M",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000957424.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1558A>G",
"hgvs_p": "p.Met520Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627483.1",
"strand": true,
"transcript": "ENST00000957424.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5651,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000590806.5",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "n.4211A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000590806.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000593203.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "n.806A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000593203.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000681972.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "n.1454A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000681972.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1555716140",
"effect": "missense_variant",
"frequency_reference_population": 6.8405535e-7,
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84055e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Charcot-Marie-Tooth disease dominant intermediate B",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.189,
"pos": 10825186,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.224,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001005360.3"
}
]
}