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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: 2-43231280-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43231280&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43231280,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022065.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5530G>A",
"hgvs_p": "p.Val1844Met",
"transcript": "NM_022065.5",
"protein_id": "NP_071348.3",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405975.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022065.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5530G>A",
"hgvs_p": "p.Val1844Met",
"transcript": "ENST00000405975.7",
"protein_id": "ENSP00000386088.2",
"transcript_support_level": 1,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022065.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405975.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5530G>A",
"hgvs_p": "p.Val1844Met",
"transcript": "ENST00000405006.8",
"protein_id": "ENSP00000385995.4",
"transcript_support_level": 1,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405006.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5530G>A",
"hgvs_p": "p.Val1844Met",
"transcript": "NM_001083953.2",
"protein_id": "NP_001077422.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083953.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5530G>A",
"hgvs_p": "p.Val1844Met",
"transcript": "NM_001345925.2",
"protein_id": "NP_001332854.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345925.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5530G>A",
"hgvs_p": "p.Val1844Met",
"transcript": "ENST00000855634.1",
"protein_id": "ENSP00000525693.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855634.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5530G>A",
"hgvs_p": "p.Val1844Met",
"transcript": "ENST00000915746.1",
"protein_id": "ENSP00000585805.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915746.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5530G>A",
"hgvs_p": "p.Val1844Met",
"transcript": "ENST00000944893.1",
"protein_id": "ENSP00000614952.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5530,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944893.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5527G>A",
"hgvs_p": "p.Val1843Met",
"transcript": "NM_001345923.2",
"protein_id": "NP_001332852.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5527,
"cds_end": null,
"cds_length": 5859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345923.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5527G>A",
"hgvs_p": "p.Val1843Met",
"transcript": "ENST00000855632.1",
"protein_id": "ENSP00000525691.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5527,
"cds_end": null,
"cds_length": 5859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855632.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5527G>A",
"hgvs_p": "p.Val1843Met",
"transcript": "ENST00000855637.1",
"protein_id": "ENSP00000525696.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5527,
"cds_end": null,
"cds_length": 5859,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855637.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5410G>A",
"hgvs_p": "p.Val1804Met",
"transcript": "ENST00000855630.1",
"protein_id": "ENSP00000525689.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5410,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855630.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5410G>A",
"hgvs_p": "p.Val1804Met",
"transcript": "ENST00000855635.1",
"protein_id": "ENSP00000525694.1",
"transcript_support_level": null,
"aa_start": 1804,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5410,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5407G>A",
"hgvs_p": "p.Val1803Met",
"transcript": "NM_001345924.2",
"protein_id": "NP_001332853.1",
"transcript_support_level": null,
"aa_start": 1803,
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"aa_length": 1912,
"cds_start": 5407,
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"biotype": "protein_coding",
"feature": "NM_001345924.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5407G>A",
"hgvs_p": "p.Val1803Met",
"transcript": "ENST00000855633.1",
"protein_id": "ENSP00000525692.1",
"transcript_support_level": null,
"aa_start": 1803,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5407,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000855633.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 37,
"intron_rank": null,
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"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5368G>A",
"hgvs_p": "p.Val1790Met",
"transcript": "ENST00000944894.1",
"protein_id": "ENSP00000614953.1",
"transcript_support_level": null,
"aa_start": 1790,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5368,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944894.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5323G>A",
"hgvs_p": "p.Val1775Met",
"transcript": "ENST00000944896.1",
"protein_id": "ENSP00000614955.1",
"transcript_support_level": null,
"aa_start": 1775,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5323,
"cds_end": null,
"cds_length": 5655,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944896.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5308G>A",
"hgvs_p": "p.Val1770Met",
"transcript": "ENST00000855636.1",
"protein_id": "ENSP00000525695.1",
"transcript_support_level": null,
"aa_start": 1770,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5308,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000855636.1"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 36,
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"exon_count": 36,
"intron_rank": null,
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"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5308G>A",
"hgvs_p": "p.Val1770Met",
"transcript": "ENST00000855639.1",
"protein_id": "ENSP00000525698.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 5308,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855639.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5278G>A",
"hgvs_p": "p.Val1760Met",
"transcript": "ENST00000944895.1",
"protein_id": "ENSP00000614954.1",
"transcript_support_level": null,
"aa_start": 1760,
"aa_end": null,
"aa_length": 1869,
"cds_start": 5278,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944895.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Val1723Met",
"transcript": "ENST00000855631.1",
"protein_id": "ENSP00000525690.1",
"transcript_support_level": null,
"aa_start": 1723,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5167,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855631.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Val1723Met",
"transcript": "ENST00000855638.1",
"protein_id": "ENSP00000525697.1",
"transcript_support_level": null,
"aa_start": 1723,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5167,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
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],
"gene_symbol": "THADA",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.18858647346496582,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022065.5",
"gene_symbol": "THADA",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Val1844Met"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000423354.2",
"gene_symbol": "LINC01126",
"hgnc_id": 49275,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.326-1484C>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}