← 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: 7-158945655-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158945655&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 158945655,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000407559.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3077C>T",
"hgvs_p": "p.Ala1026Val",
"transcript": "NM_018051.5",
"protein_id": "NP_060521.4",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3255,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": "ENST00000407559.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3077C>T",
"hgvs_p": "p.Ala1026Val",
"transcript": "ENST00000407559.8",
"protein_id": "ENSP00000384290.3",
"transcript_support_level": 1,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3255,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": "NM_018051.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.*666C>T",
"hgvs_p": null,
"transcript": "ENST00000444851.5",
"protein_id": "ENSP00000392608.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.*666C>T",
"hgvs_p": null,
"transcript": "ENST00000444851.5",
"protein_id": "ENSP00000392608.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2939C>T",
"hgvs_p": "p.Ala980Val",
"transcript": "NM_001350914.2",
"protein_id": "NP_001337843.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2939,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2504C>T",
"hgvs_p": "p.Ala835Val",
"transcript": "NM_001350915.2",
"protein_id": "NP_001337844.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 875,
"cds_start": 2504,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 3199,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1829C>T",
"hgvs_p": "p.Ala610Val",
"transcript": "NM_001350917.2",
"protein_id": "NP_001337846.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 650,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 3373,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1829C>T",
"hgvs_p": "p.Ala610Val",
"transcript": "NM_001350918.2",
"protein_id": "NP_001337847.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 650,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Ala539Val",
"transcript": "NM_001350916.2",
"protein_id": "NP_001337845.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 579,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 3152,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3086C>T",
"hgvs_p": "p.Ala1029Val",
"transcript": "XM_006716041.3",
"protein_id": "XP_006716104.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3086C>T",
"hgvs_p": "p.Ala1029Val",
"transcript": "XM_011516367.3",
"protein_id": "XP_011514669.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3183,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.3077C>T",
"hgvs_p": "p.Ala1026Val",
"transcript": "XM_047420557.1",
"protein_id": "XP_047276513.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3077,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2948C>T",
"hgvs_p": "p.Ala983Val",
"transcript": "XM_011516369.3",
"protein_id": "XP_011514671.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2948,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 3246,
"cdna_end": null,
"cdna_length": 3780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2948C>T",
"hgvs_p": "p.Ala983Val",
"transcript": "XM_017012381.3",
"protein_id": "XP_016867870.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2948,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 3284,
"cdna_end": null,
"cdna_length": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2948C>T",
"hgvs_p": "p.Ala983Val",
"transcript": "XM_047420555.1",
"protein_id": "XP_047276511.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2948,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2948C>T",
"hgvs_p": "p.Ala983Val",
"transcript": "XM_047420560.1",
"protein_id": "XP_047276516.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2948,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 3325,
"cdna_end": null,
"cdna_length": 3859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2945C>T",
"hgvs_p": "p.Ala982Val",
"transcript": "XM_017012382.2",
"protein_id": "XP_016867871.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2945,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 3123,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2939C>T",
"hgvs_p": "p.Ala980Val",
"transcript": "XM_047420556.1",
"protein_id": "XP_047276512.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2939,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 3696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2816C>T",
"hgvs_p": "p.Ala939Val",
"transcript": "XM_047420558.1",
"protein_id": "XP_047276514.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 979,
"cds_start": 2816,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2807C>T",
"hgvs_p": "p.Ala936Val",
"transcript": "XM_047420559.1",
"protein_id": "XP_047276515.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 976,
"cds_start": 2807,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 3024,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.2513C>T",
"hgvs_p": "p.Ala838Val",
"transcript": "XM_047420561.1",
"protein_id": "XP_047276517.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 878,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1829C>T",
"hgvs_p": "p.Ala610Val",
"transcript": "XM_047420562.1",
"protein_id": "XP_047276518.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 650,
"cds_start": 1829,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Ala539Val",
"transcript": "XM_017012388.2",
"protein_id": "XP_016867877.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 579,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 4056,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Ala539Val",
"transcript": "XM_047420563.1",
"protein_id": "XP_047276519.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 579,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.467C>T",
"hgvs_p": null,
"transcript": "ENST00000454771.1",
"protein_id": "ENSP00000399971.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.4876C>T",
"hgvs_p": null,
"transcript": "ENST00000467220.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.3165C>T",
"hgvs_p": null,
"transcript": "XR_007060057.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.3165C>T",
"hgvs_p": null,
"transcript": "XR_007060058.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.3165C>T",
"hgvs_p": null,
"transcript": "XR_007060059.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.3165C>T",
"hgvs_p": null,
"transcript": "XR_007060060.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.3165C>T",
"hgvs_p": null,
"transcript": "XR_007060061.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"hgvs_c": "n.3165C>T",
"hgvs_p": null,
"transcript": "XR_007060062.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DYNC2I1",
"gene_hgnc_id": 21862,
"dbsnp": "rs370850399",
"frequency_reference_population": 0.0000062024887,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000547918,
"gnomad_genomes_af": 0.000013142,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05692380666732788,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.1178,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.337,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000407559.8",
"gene_symbol": "DYNC2I1",
"hgnc_id": 21862,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3077C>T",
"hgvs_p": "p.Ala1026Val"
}
],
"clinvar_disease": "Short-rib thoracic dysplasia 8 with or without polydactyly",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Short-rib thoracic dysplasia 8 with or without polydactyly",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}