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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: 2-43232750-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43232750&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43232750,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022065.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5429G>C",
"hgvs_p": "p.Ser1810Thr",
"transcript": "NM_022065.5",
"protein_id": "NP_071348.3",
"transcript_support_level": null,
"aa_start": 1810,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5429,
"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": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5429G>C",
"hgvs_p": "p.Ser1810Thr",
"transcript": "ENST00000405975.7",
"protein_id": "ENSP00000386088.2",
"transcript_support_level": 1,
"aa_start": 1810,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5429,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5429G>C",
"hgvs_p": "p.Ser1810Thr",
"transcript": "ENST00000405006.8",
"protein_id": "ENSP00000385995.4",
"transcript_support_level": 1,
"aa_start": 1810,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5429,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5429G>C",
"hgvs_p": "p.Ser1810Thr",
"transcript": "NM_001083953.2",
"protein_id": "NP_001077422.1",
"transcript_support_level": null,
"aa_start": 1810,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5429,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5429G>C",
"hgvs_p": "p.Ser1810Thr",
"transcript": "NM_001345925.2",
"protein_id": "NP_001332854.1",
"transcript_support_level": null,
"aa_start": 1810,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5429,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5429G>C",
"hgvs_p": "p.Ser1810Thr",
"transcript": "ENST00000855634.1",
"protein_id": "ENSP00000525693.1",
"transcript_support_level": null,
"aa_start": 1810,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5429,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5429G>C",
"hgvs_p": "p.Ser1810Thr",
"transcript": "ENST00000915746.1",
"protein_id": "ENSP00000585805.1",
"transcript_support_level": null,
"aa_start": 1810,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5429,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5429G>C",
"hgvs_p": "p.Ser1810Thr",
"transcript": "ENST00000944893.1",
"protein_id": "ENSP00000614952.1",
"transcript_support_level": null,
"aa_start": 1810,
"aa_end": null,
"aa_length": 1953,
"cds_start": 5429,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5426G>C",
"hgvs_p": "p.Ser1809Thr",
"transcript": "NM_001345923.2",
"protein_id": "NP_001332852.1",
"transcript_support_level": null,
"aa_start": 1809,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5426,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5426G>C",
"hgvs_p": "p.Ser1809Thr",
"transcript": "ENST00000855632.1",
"protein_id": "ENSP00000525691.1",
"transcript_support_level": null,
"aa_start": 1809,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5426,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5426G>C",
"hgvs_p": "p.Ser1809Thr",
"transcript": "ENST00000855637.1",
"protein_id": "ENSP00000525696.1",
"transcript_support_level": null,
"aa_start": 1809,
"aa_end": null,
"aa_length": 1952,
"cds_start": 5426,
"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": "ENST00000855637.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5309G>C",
"hgvs_p": "p.Ser1770Thr",
"transcript": "ENST00000855630.1",
"protein_id": "ENSP00000525689.1",
"transcript_support_level": null,
"aa_start": 1770,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5309,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855630.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5309G>C",
"hgvs_p": "p.Ser1770Thr",
"transcript": "ENST00000855635.1",
"protein_id": "ENSP00000525694.1",
"transcript_support_level": null,
"aa_start": 1770,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5309,
"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": "ENST00000855635.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5306G>C",
"hgvs_p": "p.Ser1769Thr",
"transcript": "NM_001345924.2",
"protein_id": "NP_001332853.1",
"transcript_support_level": null,
"aa_start": 1769,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5306,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345924.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5306G>C",
"hgvs_p": "p.Ser1769Thr",
"transcript": "ENST00000855633.1",
"protein_id": "ENSP00000525692.1",
"transcript_support_level": null,
"aa_start": 1769,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5306,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855633.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5267G>C",
"hgvs_p": "p.Ser1756Thr",
"transcript": "ENST00000944894.1",
"protein_id": "ENSP00000614953.1",
"transcript_support_level": null,
"aa_start": 1756,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5267,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5222G>C",
"hgvs_p": "p.Ser1741Thr",
"transcript": "ENST00000944896.1",
"protein_id": "ENSP00000614955.1",
"transcript_support_level": null,
"aa_start": 1741,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5222,
"cds_end": null,
"cds_length": 5655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944896.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5207G>C",
"hgvs_p": "p.Ser1736Thr",
"transcript": "ENST00000855636.1",
"protein_id": "ENSP00000525695.1",
"transcript_support_level": null,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5207,
"cds_end": null,
"cds_length": 5640,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855636.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5207G>C",
"hgvs_p": "p.Ser1736Thr",
"transcript": "ENST00000855639.1",
"protein_id": "ENSP00000525698.1",
"transcript_support_level": null,
"aa_start": 1736,
"aa_end": null,
"aa_length": 1879,
"cds_start": 5207,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855639.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5177G>C",
"hgvs_p": "p.Ser1726Thr",
"transcript": "ENST00000944895.1",
"protein_id": "ENSP00000614954.1",
"transcript_support_level": null,
"aa_start": 1726,
"aa_end": null,
"aa_length": 1869,
"cds_start": 5177,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944895.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5066G>C",
"hgvs_p": "p.Ser1689Thr",
"transcript": "ENST00000855631.1",
"protein_id": "ENSP00000525690.1",
"transcript_support_level": null,
"aa_start": 1689,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5066,
"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": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5066G>C",
"hgvs_p": "p.Ser1689Thr",
"transcript": "ENST00000855638.1",
"protein_id": "ENSP00000525697.1",
"transcript_support_level": null,
"aa_start": 1689,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5066,
"cds_end": null,
"cds_length": 5499,
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{
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{
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],
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{
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],
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"gene_symbol": "LINC01126",
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"biotype": "pseudogene",
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],
"gene_symbol": "THADA",
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"dbsnp": "rs761064007",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000615775,
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"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029603630304336548,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.0863,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.836,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022065.5",
"gene_symbol": "THADA",
"hgnc_id": 19217,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5429G>C",
"hgvs_p": "p.Ser1810Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000717220.1",
"gene_symbol": "LINC01126",
"hgnc_id": 49275,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.134C>G",
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}
],
"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
}