← 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: 2-74369400-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74369400&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DCTN1",
"hgnc_id": 2711,
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_004082.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 26496,
"alphamissense_prediction": null,
"alphamissense_score": 0.077,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " distal hereditary motor, type 7B,Amyotrophic lateral sclerosis,Amyotrophic lateral sclerosis type 1,Neuronopathy,Perry syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00827839970588684,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 3837,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_004082.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000628224.3",
"protein_coding": true,
"protein_id": "NP_004073.2",
"strand": false,
"transcript": "NM_004082.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 3837,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000628224.3",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004082.5",
"protein_coding": true,
"protein_id": "ENSP00000487279.2",
"strand": false,
"transcript": "ENST00000628224.3",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4485,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 3822,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000361874.8",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354791.4",
"strand": false,
"transcript": "ENST00000361874.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 3762,
"cds_start": 1424,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000409567.7",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Arg475Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386843.3",
"strand": false,
"transcript": "ENST00000409567.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "R",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4365,
"cdna_start": 1685,
"cds_end": null,
"cds_length": 3711,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000409240.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1373G>A",
"hgvs_p": "p.Arg458Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386406.1",
"strand": false,
"transcript": "ENST00000409240.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 3420,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000409438.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387270.1",
"strand": false,
"transcript": "ENST00000409438.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 3816,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001190837.2",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1463G>A",
"hgvs_p": "p.Arg488Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177766.1",
"strand": false,
"transcript": "NM_001190837.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 3816,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000394003.7",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1463G>A",
"hgvs_p": "p.Arg488Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377571.3",
"strand": false,
"transcript": "ENST00000394003.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4441,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 3801,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000898642.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1463G>A",
"hgvs_p": "p.Arg488Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568701.1",
"strand": false,
"transcript": "ENST00000898642.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 3801,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000971125.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641184.1",
"strand": false,
"transcript": "ENST00000971125.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 1720,
"cds_end": null,
"cds_length": 3798,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971127.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641186.1",
"strand": false,
"transcript": "ENST00000971127.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": 1685,
"cds_end": null,
"cds_length": 3798,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971130.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641189.1",
"strand": false,
"transcript": "ENST00000971130.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4381,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 3798,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000971131.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641190.1",
"strand": false,
"transcript": "ENST00000971131.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "R",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 3786,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001378991.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365920.1",
"strand": false,
"transcript": "NM_001378991.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "R",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 3786,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000680606.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505612.1",
"strand": false,
"transcript": "ENST00000680606.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4424,
"cdna_start": 1741,
"cds_end": null,
"cds_length": 3783,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000898641.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568700.1",
"strand": false,
"transcript": "ENST00000898641.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "R",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 1710,
"cds_end": null,
"cds_length": 3780,
"cds_start": 1442,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971128.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641187.1",
"strand": false,
"transcript": "ENST00000971128.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1258,
"aa_ref": "R",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 3777,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971133.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641192.1",
"strand": false,
"transcript": "ENST00000971133.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "R",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4202,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 3771,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000409868.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387327.1",
"strand": false,
"transcript": "ENST00000409868.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 3768,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378992.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Arg472Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365921.1",
"strand": false,
"transcript": "NM_001378992.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "R",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 3762,
"cds_start": 1424,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001135040.3",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Arg475Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128512.1",
"strand": false,
"transcript": "NM_001135040.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1252,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4373,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 3759,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971126.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641185.1",
"strand": false,
"transcript": "ENST00000971126.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "R",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 3711,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001190836.2",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1373G>A",
"hgvs_p": "p.Arg458Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177765.1",
"strand": false,
"transcript": "NM_001190836.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4263,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 3684,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971132.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641191.1",
"strand": false,
"transcript": "ENST00000971132.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4202,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 3606,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971129.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641188.1",
"strand": false,
"transcript": "ENST00000971129.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1144,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 3435,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_023019.4",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_075408.1",
"strand": false,
"transcript": "NM_023019.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1144,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4160,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 3435,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000633691.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487724.1",
"strand": false,
"transcript": "ENST00000633691.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1139,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4079,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 3420,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001135041.3",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128513.1",
"strand": false,
"transcript": "NM_001135041.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000434055.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "n.1373G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416711.1",
"strand": false,
"transcript": "ENST00000434055.5",
"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": 5414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000466110.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "n.1705G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000466110.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_033935.2",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "n.1464G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_033935.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 479,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000497666.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "n.-5G>A",
"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": "ENST00000497666.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs17721059",
"effect": "missense_variant",
"frequency_reference_population": 0.016414547,
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"gnomad_exomes_ac": 24507,
"gnomad_exomes_af": 0.016764,
"gnomad_exomes_homalt": 254,
"gnomad_genomes_ac": 1989,
"gnomad_genomes_af": 0.0130603,
"gnomad_genomes_homalt": 25,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 279,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|Neuronopathy, distal hereditary motor, type 7B|Perry syndrome|Amyotrophic lateral sclerosis type 1;Perry syndrome;Neuronopathy, distal hereditary motor, type 7B|not provided|Amyotrophic lateral sclerosis",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.262,
"pos": 74369400,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.139,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_004082.5"
}
]
}