← 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: 6-30897052-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30897052&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30897052,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000376568.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001297654.2",
"protein_id": "NP_001284583.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": "ENST00000376568.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "ENST00000376568.8",
"protein_id": "ENSP00000365752.3",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": "NM_001297654.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "ENST00000452441.5",
"protein_id": "ENSP00000405039.1",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000376567.6",
"protein_id": "ENSP00000365751.2",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000376570.8",
"protein_id": "ENSP00000365754.4",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387892.1",
"protein_id": "NP_001374821.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_013994.3",
"protein_id": "NP_054700.2",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "ENST00000513240.5",
"protein_id": "ENSP00000427552.1",
"transcript_support_level": 5,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387893.1",
"protein_id": "NP_001374822.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387894.1",
"protein_id": "NP_001374823.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387895.1",
"protein_id": "NP_001374824.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387896.1",
"protein_id": "NP_001374825.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387897.1",
"protein_id": "NP_001374826.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387898.1",
"protein_id": "NP_001374827.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387899.1",
"protein_id": "NP_001374828.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2314,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387900.1",
"protein_id": "NP_001374829.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387901.1",
"protein_id": "NP_001374830.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387902.1",
"protein_id": "NP_001374831.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387903.1",
"protein_id": "NP_001374832.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2435,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_001387904.1",
"protein_id": "NP_001374833.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "NM_013993.3",
"protein_id": "NP_054699.2",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "ENST00000324771.12",
"protein_id": "ENSP00000318217.8",
"transcript_support_level": 5,
"aa_start": 636,
"aa_end": null,
"aa_length": 913,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2456,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1851T>G",
"hgvs_p": "p.Val617Val",
"transcript": "NM_001410869.1",
"protein_id": "NP_001397798.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 894,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1851T>G",
"hgvs_p": "p.Val617Val",
"transcript": "ENST00000508312.5",
"protein_id": "ENSP00000422442.1",
"transcript_support_level": 2,
"aa_start": 617,
"aa_end": null,
"aa_length": 894,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387905.1",
"protein_id": "NP_001374834.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 882,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387906.1",
"protein_id": "NP_001374835.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 882,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 3743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387907.1",
"protein_id": "NP_001374836.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 882,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001202523.3",
"protein_id": "NP_001189452.2",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001297652.2",
"protein_id": "NP_001284581.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001297653.2",
"protein_id": "NP_001284582.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387908.1",
"protein_id": "NP_001374837.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387909.1",
"protein_id": "NP_001374838.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387910.1",
"protein_id": "NP_001374839.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387911.1",
"protein_id": "NP_001374840.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387912.1",
"protein_id": "NP_001374841.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387913.1",
"protein_id": "NP_001374842.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387914.1",
"protein_id": "NP_001374843.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387915.1",
"protein_id": "NP_001374844.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387916.1",
"protein_id": "NP_001374845.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387917.1",
"protein_id": "NP_001374846.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001387918.1",
"protein_id": "NP_001374847.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001954.5",
"protein_id": "NP_001945.3",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000376569.7",
"protein_id": "ENSP00000365753.3",
"transcript_support_level": 5,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000418800.6",
"protein_id": "ENSP00000407699.2",
"transcript_support_level": 2,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1797T>G",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000454612.6",
"protein_id": "ENSP00000406091.2",
"transcript_support_level": 5,
"aa_start": 599,
"aa_end": null,
"aa_length": 876,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1470T>G",
"hgvs_p": "p.Val490Val",
"transcript": "NM_001202522.1",
"protein_id": "NP_001189451.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 767,
"cds_start": 1470,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1470T>G",
"hgvs_p": "p.Val490Val",
"transcript": "ENST00000446312.5",
"protein_id": "ENSP00000405998.2",
"transcript_support_level": 5,
"aa_start": 490,
"aa_end": null,
"aa_length": 767,
"cds_start": 1470,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1104T>G",
"hgvs_p": "p.Val368Val",
"transcript": "ENST00000417521.5",
"protein_id": "ENSP00000398682.1",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 492,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.381T>G",
"hgvs_p": "p.Val127Val",
"transcript": "ENST00000514434.1",
"protein_id": "ENSP00000427124.1",
"transcript_support_level": 3,
"aa_start": 127,
"aa_end": null,
"aa_length": 170,
"cds_start": 381,
"cds_end": null,
"cds_length": 513,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1962T>G",
"hgvs_p": "p.Val654Val",
"transcript": "XM_047419318.1",
"protein_id": "XP_047275274.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 937,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1962T>G",
"hgvs_p": "p.Val654Val",
"transcript": "XM_047419319.1",
"protein_id": "XP_047275275.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 937,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1962T>G",
"hgvs_p": "p.Val654Val",
"transcript": "XM_047419320.1",
"protein_id": "XP_047275276.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 937,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1962T>G",
"hgvs_p": "p.Val654Val",
"transcript": "XM_047419321.1",
"protein_id": "XP_047275277.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 937,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1962T>G",
"hgvs_p": "p.Val654Val",
"transcript": "XM_047419322.1",
"protein_id": "XP_047275278.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 937,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2400,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1962T>G",
"hgvs_p": "p.Val654Val",
"transcript": "XM_047419323.1",
"protein_id": "XP_047275279.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 937,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1962T>G",
"hgvs_p": "p.Val654Val",
"transcript": "XM_047419324.1",
"protein_id": "XP_047275280.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 937,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1962T>G",
"hgvs_p": "p.Val654Val",
"transcript": "XM_047419325.1",
"protein_id": "XP_047275281.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 931,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1962T>G",
"hgvs_p": "p.Val654Val",
"transcript": "XM_047419326.1",
"protein_id": "XP_047275282.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 931,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "XM_011514884.2",
"protein_id": "XP_011513186.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "XM_011514887.3",
"protein_id": "XP_011513189.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "XM_017011268.3",
"protein_id": "XP_016866757.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "XM_024446540.2",
"protein_id": "XP_024302308.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "XM_024446541.2",
"protein_id": "XP_024302309.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "XM_047419327.1",
"protein_id": "XP_047275283.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "XM_047419328.1",
"protein_id": "XP_047275284.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "XM_047419329.1",
"protein_id": "XP_047275285.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val",
"transcript": "XM_047419330.1",
"protein_id": "XP_047275286.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 919,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1851T>G",
"hgvs_p": "p.Val617Val",
"transcript": "XM_047419331.1",
"protein_id": "XP_047275287.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 900,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1851T>G",
"hgvs_p": "p.Val617Val",
"transcript": "XM_047419332.1",
"protein_id": "XP_047275288.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 894,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.1851T>G",
"hgvs_p": "p.Val617Val",
"transcript": "XM_047419333.1",
"protein_id": "XP_047275289.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 894,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2226,
"cdna_end": null,
"cdna_length": 3920,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "n.*965T>G",
"hgvs_p": null,
"transcript": "ENST00000482873.6",
"protein_id": "ENSP00000421978.1",
"transcript_support_level": 5,
"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": 2673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.*25T>G",
"hgvs_p": null,
"transcript": "NM_001202521.1",
"protein_id": "NP_001189450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3288,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "n.*965T>G",
"hgvs_p": null,
"transcript": "ENST00000482873.6",
"protein_id": "ENSP00000421978.1",
"transcript_support_level": 5,
"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": 2673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "n.*6T>G",
"hgvs_p": null,
"transcript": "ENST00000465966.4",
"protein_id": null,
"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": 268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "n.*6T>G",
"hgvs_p": null,
"transcript": "ENST00000513514.2",
"protein_id": null,
"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": 186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"hgvs_c": "c.-25T>G",
"hgvs_p": null,
"transcript": "ENST00000484556.1",
"protein_id": "ENSP00000424003.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DDR1",
"gene_hgnc_id": 2730,
"dbsnp": "rs1049623",
"frequency_reference_population": 6.8414425e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84144e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.7900000214576721,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.582,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.79,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000376568.8",
"gene_symbol": "DDR1",
"hgnc_id": 2730,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1908T>G",
"hgvs_p": "p.Val636Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}