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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: 7-99385726-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99385726&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99385726,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005720.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "NM_005720.4",
"protein_id": "NP_005711.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646101.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005720.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000646101.2",
"protein_id": "ENSP00000496599.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005720.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646101.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284292",
"gene_hgnc_id": null,
"hgvs_c": "c.1008C>T",
"hgvs_p": "p.His336His",
"transcript": "ENST00000638617.1",
"protein_id": "ENSP00000491073.1",
"transcript_support_level": 5,
"aa_start": 336,
"aa_end": null,
"aa_length": 684,
"cds_start": 1008,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638617.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000970476.1",
"protein_id": "ENSP00000640535.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 410,
"cds_start": 12,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970476.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897885.1",
"protein_id": "ENSP00000567944.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 379,
"cds_start": 12,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897885.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000414376.6",
"protein_id": "ENSP00000398620.2",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414376.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000427217.6",
"protein_id": "ENSP00000403211.2",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427217.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000431816.6",
"protein_id": "ENSP00000398110.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431816.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000451682.5",
"protein_id": "ENSP00000389631.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451682.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000455009.6",
"protein_id": "ENSP00000410238.2",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455009.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000458033.6",
"protein_id": "ENSP00000388802.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458033.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000645391.1",
"protein_id": "ENSP00000494033.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645391.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897879.1",
"protein_id": "ENSP00000567938.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897879.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897880.1",
"protein_id": "ENSP00000567939.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897880.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897881.1",
"protein_id": "ENSP00000567940.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897881.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897882.1",
"protein_id": "ENSP00000567941.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897882.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897883.1",
"protein_id": "ENSP00000567942.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897883.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897884.1",
"protein_id": "ENSP00000567943.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897884.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897886.1",
"protein_id": "ENSP00000567945.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897886.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897887.1",
"protein_id": "ENSP00000567946.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897887.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897889.1",
"protein_id": "ENSP00000567948.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897889.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His",
"transcript": "ENST00000897890.1",
"protein_id": "ENSP00000567949.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 372,
"cds_start": 12,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897890.1"
},
{
"aa_ref": "H",
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"exon_rank": 1,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ARPC1B",
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"hgvs_c": "n.27C>T",
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000445924.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "ARPC1B",
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"hgvs_c": "n.27C>T",
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"transcript": "ENST00000474880.5",
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"biotype": "retained_intron",
"feature": "ENST00000474880.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ARPC1B",
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"hgvs_c": "n.100C>T",
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"transcript": "ENST00000484375.5",
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"transcript_support_level": 3,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000484375.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "n.77C>T",
"hgvs_p": null,
"transcript": "ENST00000484600.6",
"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,
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"biotype": "retained_intron",
"feature": "ENST00000484600.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
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"hgvs_c": "n.111C>T",
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"transcript": "ENST00000695607.1",
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"biotype": "retained_intron",
"feature": "ENST00000695607.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
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"hgvs_c": "n.82C>T",
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"transcript": "ENST00000695608.1",
"protein_id": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000695608.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"hgvs_c": "n.77C>T",
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"transcript": "ENST00000695609.1",
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000695609.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284292",
"gene_hgnc_id": null,
"hgvs_c": "n.*1121C>T",
"hgvs_p": null,
"transcript": "ENST00000441989.6",
"protein_id": "ENSP00000412879.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000441989.6"
}
],
"gene_symbol": "ARPC1B",
"gene_hgnc_id": 704,
"dbsnp": "rs1242747091",
"frequency_reference_population": 0.0000047987605,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479876,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4699999988079071,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.47,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.991,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 3,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005720.4",
"gene_symbol": "ARPC1B",
"hgnc_id": 704,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.12C>T",
"hgvs_p": "p.His4His"
},
{
"score": 1,
"benign_score": 3,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000638617.1",
"gene_symbol": "ENSG00000284292",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1008C>T",
"hgvs_p": "p.His336His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}