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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: 7-134933161-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=134933161&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 134933161,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033138.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "NM_033138.4",
"protein_id": "NP_149129.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 793,
"cds_start": 392,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361675.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033138.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000361675.7",
"protein_id": "ENSP00000354826.2",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 793,
"cds_start": 392,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033138.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361675.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ser125Leu",
"transcript": "ENST00000393118.7",
"protein_id": "ENSP00000376826.2",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 558,
"cds_start": 374,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393118.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000361901.6",
"protein_id": "ENSP00000354513.2",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 538,
"cds_start": 392,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361901.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ser125Leu",
"transcript": "ENST00000424922.5",
"protein_id": "ENSP00000393621.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 532,
"cds_start": 374,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424922.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000866426.1",
"protein_id": "ENSP00000536485.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 793,
"cds_start": 392,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866426.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000972407.1",
"protein_id": "ENSP00000642466.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 793,
"cds_start": 392,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972407.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000972408.1",
"protein_id": "ENSP00000642467.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 793,
"cds_start": 392,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972408.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000972411.1",
"protein_id": "ENSP00000642470.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 793,
"cds_start": 392,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972411.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000972413.1",
"protein_id": "ENSP00000642472.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 793,
"cds_start": 392,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972413.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000972418.1",
"protein_id": "ENSP00000642477.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 793,
"cds_start": 392,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972418.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000972421.1",
"protein_id": "ENSP00000642480.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 793,
"cds_start": 392,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972421.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "NM_001438765.1",
"protein_id": "NP_001425694.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 792,
"cds_start": 392,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438765.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000866423.1",
"protein_id": "ENSP00000536482.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 792,
"cds_start": 392,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866423.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ser125Leu",
"transcript": "NM_001438766.1",
"protein_id": "NP_001425695.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 787,
"cds_start": 374,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438766.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000927566.1",
"protein_id": "ENSP00000597625.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 767,
"cds_start": 392,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927566.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000972409.1",
"protein_id": "ENSP00000642468.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 761,
"cds_start": 392,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972409.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000866427.1",
"protein_id": "ENSP00000536486.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 751,
"cds_start": 392,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866427.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000972414.1",
"protein_id": "ENSP00000642473.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 747,
"cds_start": 392,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972414.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "ENST00000972415.1",
"protein_id": "ENSP00000642474.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 715,
"cds_start": 392,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972415.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu",
"transcript": "NM_001438767.1",
"protein_id": "NP_001425696.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 574,
"cds_start": 392,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438767.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ser125Leu",
"transcript": "NM_001438768.1",
"protein_id": "NP_001425697.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 568,
"cds_start": 374,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "CALD1",
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_199386.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 13,
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"gene_symbol": "CALD1",
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"biotype": "pseudogene",
"feature": "NR_199387.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 13,
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"gene_symbol": "CALD1",
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"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_199388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALD1",
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"hgvs_c": "n.537C>T",
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"transcript": "NR_199389.1",
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"cds_start": null,
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"biotype": "pseudogene",
"feature": "NR_199389.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
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"gene_symbol": "CALD1",
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"hgvs_c": "n.196-33C>T",
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"transcript": "ENST00000430085.5",
"protein_id": "ENSP00000394715.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000430085.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000286458",
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"hgvs_c": "n.71+64922G>A",
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"transcript": "ENST00000665703.1",
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"biotype": "pseudogene",
"feature": "ENST00000665703.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ENSG00000286458",
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"hgvs_c": "n.219+64922G>A",
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"transcript": "ENST00000772186.1",
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"biotype": "pseudogene",
"feature": "ENST00000772186.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"intron_rank_end": null,
"gene_symbol": "CALD1",
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"hgvs_c": "c.*38C>T",
"hgvs_p": null,
"transcript": "ENST00000445569.6",
"protein_id": "ENSP00000390926.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": null,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445569.6"
}
],
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"dbsnp": "rs754604758",
"frequency_reference_population": 0.00011470848,
"hom_count_reference_population": 0,
"allele_count_reference_population": 185,
"gnomad_exomes_af": 0.000119723,
"gnomad_genomes_af": 0.0000661936,
"gnomad_exomes_ac": 175,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3146345913410187,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.0785,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.589,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_033138.4",
"gene_symbol": "CALD1",
"hgnc_id": 1441,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ser131Leu"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000665703.1",
"gene_symbol": "ENSG00000286458",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.71+64922G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}