← 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: 19-10830191-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10830191&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10830191,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001005360.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser",
"transcript": "NM_001005361.3",
"protein_id": "NP_001005361.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 870,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389253.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005361.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser",
"transcript": "ENST00000389253.9",
"protein_id": "ENSP00000373905.4",
"transcript_support_level": 5,
"aa_start": 786,
"aa_end": null,
"aa_length": 870,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001005361.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389253.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser",
"transcript": "ENST00000355667.11",
"protein_id": "ENSP00000347890.6",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 870,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355667.11"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser",
"transcript": "ENST00000585892.5",
"protein_id": "ENSP00000468734.1",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 869,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585892.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2344G>A",
"hgvs_p": "p.Gly782Ser",
"transcript": "ENST00000359692.10",
"protein_id": "ENSP00000352721.6",
"transcript_support_level": 1,
"aa_start": 782,
"aa_end": null,
"aa_length": 866,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359692.10"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Gly817Ser",
"transcript": "ENST00000957427.1",
"protein_id": "ENSP00000627486.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 900,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957427.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2431G>A",
"hgvs_p": "p.Gly811Ser",
"transcript": "ENST00000916585.1",
"protein_id": "ENSP00000586644.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 895,
"cds_start": 2431,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916585.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2419G>A",
"hgvs_p": "p.Gly807Ser",
"transcript": "ENST00000957420.1",
"protein_id": "ENSP00000627479.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 891,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957420.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Gly796Ser",
"transcript": "ENST00000957428.1",
"protein_id": "ENSP00000627487.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 879,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957428.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2374G>A",
"hgvs_p": "p.Gly792Ser",
"transcript": "ENST00000908373.1",
"protein_id": "ENSP00000578432.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 876,
"cds_start": 2374,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908373.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2374G>A",
"hgvs_p": "p.Gly792Ser",
"transcript": "ENST00000908376.1",
"protein_id": "ENSP00000578435.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 875,
"cds_start": 2374,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908376.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2371G>A",
"hgvs_p": "p.Gly791Ser",
"transcript": "ENST00000957426.1",
"protein_id": "ENSP00000627485.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 875,
"cds_start": 2371,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957426.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Gly789Ser",
"transcript": "ENST00000908381.1",
"protein_id": "ENSP00000578440.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 873,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908381.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2368G>A",
"hgvs_p": "p.Gly790Ser",
"transcript": "ENST00000957430.1",
"protein_id": "ENSP00000627489.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 873,
"cds_start": 2368,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957430.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2365G>A",
"hgvs_p": "p.Gly789Ser",
"transcript": "ENST00000957419.1",
"protein_id": "ENSP00000627478.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 872,
"cds_start": 2365,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957419.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser",
"transcript": "NM_001005360.3",
"protein_id": "NP_001005360.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 870,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005360.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser",
"transcript": "NM_001190716.2",
"protein_id": "NP_001177645.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 869,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190716.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser",
"transcript": "ENST00000957413.1",
"protein_id": "ENSP00000627472.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 869,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957413.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Gly785Ser",
"transcript": "ENST00000957416.1",
"protein_id": "ENSP00000627475.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 869,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957416.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Gly785Ser",
"transcript": "ENST00000957417.1",
"protein_id": "ENSP00000627476.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 869,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957417.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Gly783Ser",
"transcript": "ENST00000908375.1",
"protein_id": "ENSP00000578434.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 867,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908375.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2344G>A",
"hgvs_p": "p.Gly782Ser",
"transcript": "NM_001005362.3",
"protein_id": "NP_001005362.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 866,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005362.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2344G>A",
"hgvs_p": "p.Gly782Ser",
"transcript": "NM_004945.4",
"protein_id": "NP_004936.2",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 866,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004945.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2344G>A",
"hgvs_p": "p.Gly782Ser",
"transcript": "ENST00000408974.8",
"protein_id": "ENSP00000386192.3",
"transcript_support_level": 2,
"aa_start": 782,
"aa_end": null,
"aa_length": 866,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408974.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Gly783Ser",
"transcript": "ENST00000908378.1",
"protein_id": "ENSP00000578437.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 866,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908378.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2344G>A",
"hgvs_p": "p.Gly782Ser",
"transcript": "ENST00000908371.1",
"protein_id": "ENSP00000578430.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 865,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908371.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2344G>A",
"hgvs_p": "p.Gly782Ser",
"transcript": "ENST00000908372.1",
"protein_id": "ENSP00000578431.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 865,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908372.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2341G>A",
"hgvs_p": "p.Gly781Ser",
"transcript": "ENST00000957414.1",
"protein_id": "ENSP00000627473.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 865,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957414.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2341G>A",
"hgvs_p": "p.Gly781Ser",
"transcript": "ENST00000957415.1",
"protein_id": "ENSP00000627474.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 865,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957415.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Gly780Ser",
"transcript": "ENST00000908380.1",
"protein_id": "ENSP00000578439.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 864,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908380.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Gly780Ser",
"transcript": "ENST00000908382.1",
"protein_id": "ENSP00000578441.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 864,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908382.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2335G>A",
"hgvs_p": "p.Gly779Ser",
"transcript": "ENST00000957422.1",
"protein_id": "ENSP00000627481.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 863,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957422.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2323G>A",
"hgvs_p": "p.Gly775Ser",
"transcript": "ENST00000908374.1",
"protein_id": "ENSP00000578433.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 859,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908374.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2323G>A",
"hgvs_p": "p.Gly775Ser",
"transcript": "ENST00000908377.1",
"protein_id": "ENSP00000578436.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 858,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908377.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2257G>A",
"hgvs_p": "p.Gly753Ser",
"transcript": "ENST00000957423.1",
"protein_id": "ENSP00000627482.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 837,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957423.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2257G>A",
"hgvs_p": "p.Gly753Ser",
"transcript": "ENST00000957425.1",
"protein_id": "ENSP00000627484.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 837,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957425.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Gly736Ser",
"transcript": "ENST00000957421.1",
"protein_id": "ENSP00000627480.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 820,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957421.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Gly732Ser",
"transcript": "ENST00000908379.1",
"protein_id": "ENSP00000578438.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 816,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908379.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Gly732Ser",
"transcript": "ENST00000908383.1",
"protein_id": "ENSP00000578442.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 816,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908383.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Gly688Ser",
"transcript": "ENST00000957429.1",
"protein_id": "ENSP00000627488.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 772,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957429.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Gly631Ser",
"transcript": "ENST00000957424.1",
"protein_id": "ENSP00000627483.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 715,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957424.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Ser",
"transcript": "ENST00000589106.1",
"protein_id": "ENSP00000466914.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 136,
"cds_start": 220,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589106.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.2292-790G>A",
"hgvs_p": null,
"transcript": "ENST00000957418.1",
"protein_id": "ENSP00000627477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": null,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "n.4544G>A",
"hgvs_p": null,
"transcript": "ENST00000590806.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000590806.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "n.1139G>A",
"hgvs_p": null,
"transcript": "ENST00000593203.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000593203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "n.1787G>A",
"hgvs_p": null,
"transcript": "ENST00000681972.1",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681972.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.-147G>A",
"hgvs_p": null,
"transcript": "ENST00000591818.1",
"protein_id": "ENSP00000466621.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591818.1"
}
],
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"dbsnp": "rs1555717200",
"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": 0.6627846360206604,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.528,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2136,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.782,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001005360.3",
"gene_symbol": "DNM2",
"hgnc_id": 2974,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}