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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: 15-34792275-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34792275&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34792275,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005159.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "NM_005159.5",
"protein_id": "NP_005150.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 377,
"cds_start": 623,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": "ENST00000290378.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005159.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000290378.6",
"protein_id": "ENSP00000290378.4",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 377,
"cds_start": 623,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": "NM_005159.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290378.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000713613.1",
"protein_id": "ENSP00000518909.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 414,
"cds_start": 734,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713613.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210His",
"transcript": "ENST00000868408.1",
"protein_id": "ENSP00000538467.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 379,
"cds_start": 629,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868408.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "NM_001406482.1",
"protein_id": "NP_001393411.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 377,
"cds_start": 623,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406482.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "NM_001406483.1",
"protein_id": "NP_001393412.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 377,
"cds_start": 623,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406483.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000713610.1",
"protein_id": "ENSP00000518905.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 377,
"cds_start": 623,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713610.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000713615.1",
"protein_id": "ENSP00000518911.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 377,
"cds_start": 623,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713615.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000868405.1",
"protein_id": "ENSP00000538464.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 377,
"cds_start": 623,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868405.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000953688.1",
"protein_id": "ENSP00000623747.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 377,
"cds_start": 623,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953688.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"transcript": "ENST00000920920.1",
"protein_id": "ENSP00000590979.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 374,
"cds_start": 614,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920920.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "ENST00000868406.1",
"protein_id": "ENSP00000538465.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 352,
"cds_start": 623,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868406.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163His",
"transcript": "NM_001406484.1",
"protein_id": "NP_001393413.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 332,
"cds_start": 488,
"cds_end": null,
"cds_length": 999,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406484.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154His",
"transcript": "ENST00000868407.1",
"protein_id": "ENSP00000538466.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 323,
"cds_start": 461,
"cds_end": null,
"cds_length": 972,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868407.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Arg61His",
"transcript": "NM_001406485.1",
"protein_id": "NP_001393414.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 230,
"cds_start": 182,
"cds_end": null,
"cds_length": 693,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406485.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"transcript": "XM_047432979.1",
"protein_id": "XP_047288935.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 377,
"cds_start": 623,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432979.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.617-24G>A",
"hgvs_p": null,
"transcript": "ENST00000953689.1",
"protein_id": "ENSP00000623748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": null,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953689.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.616+133G>A",
"hgvs_p": null,
"transcript": "ENST00000713616.1",
"protein_id": "ENSP00000518912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.313G>A",
"hgvs_p": null,
"transcript": "ENST00000557860.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 636,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000557860.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.729G>A",
"hgvs_p": null,
"transcript": "ENST00000560563.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000560563.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.717G>A",
"hgvs_p": null,
"transcript": "ENST00000647798.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000647798.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.780G>A",
"hgvs_p": null,
"transcript": "ENST00000648556.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000648556.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"strand": false,
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{
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],
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"transcript": "ENST00000713608.1",
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{
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"strand": false,
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"non_coding_transcript_exon_variant"
],
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"transcript": "ENST00000713617.1",
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1481,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000713617.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GJD2-DT",
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"biotype": "pseudogene",
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},
{
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"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "GJD2-DT",
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"hgvs_c": "n.139-18221C>T",
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"transcript": "ENST00000671663.2",
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"cds_end": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000671663.2"
},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"gene_symbol": "GJD2-DT",
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"hgvs_c": "n.299+14844C>T",
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"transcript": "NR_120329.1",
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"cdna_start": null,
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"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_120329.1"
}
],
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"dbsnp": "rs142839840",
"frequency_reference_population": 0.0000075245266,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752453,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6812849044799805,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.606,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8744,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.156,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005159.5",
"gene_symbol": "ACTC1",
"hgnc_id": 143,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000503496.6",
"gene_symbol": "GJD2-DT",
"hgnc_id": 55560,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.299+14844C>T",
"hgvs_p": null
}
],
"clinvar_disease": "ACTC1-related disorder,Atrial septal defect 5,Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1R,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 11,Left ventricular noncompaction 1,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7 O:1",
"phenotype_combined": "not specified|Atrial septal defect 5;Dilated cardiomyopathy 1R;Hypertrophic cardiomyopathy 11|Cardiomyopathy|not provided|Cardiovascular phenotype|ACTC1-related disorder|Hypertrophic cardiomyopathy|Atrial septal defect 5;Dilated cardiomyopathy 1R;Left ventricular noncompaction 1;Hypertrophic cardiomyopathy 11",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}