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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: 5-177496439-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177496439&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177496439,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005451.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "NM_005451.5",
"protein_id": "NP_005442.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 457,
"cds_start": 74,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": "ENST00000355841.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005451.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000355841.7",
"protein_id": "ENSP00000348099.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 457,
"cds_start": 74,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": "NM_005451.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355841.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000359895.6",
"protein_id": "ENSP00000352964.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 423,
"cds_start": 74,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 119,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359895.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000393551.5",
"protein_id": "ENSP00000377182.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 287,
"cds_start": 74,
"cds_end": null,
"cds_length": 864,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 1226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393551.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000355572.6",
"protein_id": "ENSP00000347776.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 222,
"cds_start": 74,
"cds_end": null,
"cds_length": 669,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355572.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "n.74A>G",
"hgvs_p": null,
"transcript": "ENST00000486828.6",
"protein_id": "ENSP00000439157.1",
"transcript_support_level": 1,
"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": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486828.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "n.74A>G",
"hgvs_p": null,
"transcript": "ENST00000493815.5",
"protein_id": "ENSP00000431236.1",
"transcript_support_level": 1,
"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": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000493815.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000911151.1",
"protein_id": "ENSP00000581210.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 546,
"cds_start": 74,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911151.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000950050.1",
"protein_id": "ENSP00000620109.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 540,
"cds_start": 74,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950050.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000950048.1",
"protein_id": "ENSP00000620107.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 529,
"cds_start": 74,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950048.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000911150.1",
"protein_id": "ENSP00000581209.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 522,
"cds_start": 74,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911150.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000950041.1",
"protein_id": "ENSP00000620100.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 512,
"cds_start": 74,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950041.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000950036.1",
"protein_id": "ENSP00000620095.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 488,
"cds_start": 74,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950036.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000950049.1",
"protein_id": "ENSP00000620108.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 488,
"cds_start": 74,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950049.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000911149.1",
"protein_id": "ENSP00000581208.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 481,
"cds_start": 74,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911149.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000950054.1",
"protein_id": "ENSP00000620113.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 481,
"cds_start": 74,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950054.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000911161.1",
"protein_id": "ENSP00000581220.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 474,
"cds_start": 74,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911161.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000950040.1",
"protein_id": "ENSP00000620099.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 470,
"cds_start": 74,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950040.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000911148.1",
"protein_id": "ENSP00000581207.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 464,
"cds_start": 74,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911148.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000916414.1",
"protein_id": "ENSP00000586473.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 463,
"cds_start": 74,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 157,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916414.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000911152.1",
"protein_id": "ENSP00000581211.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 460,
"cds_start": 74,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911152.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDLIM7",
"gene_hgnc_id": 22958,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asn25Ser",
"transcript": "ENST00000911159.1",
"protein_id": "ENSP00000581218.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 457,
"cds_start": 74,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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{
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{
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{
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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": "PDLIM7",
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"dbsnp": "rs372976882",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.0000303858,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19244548678398132,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0591,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.086,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005451.5",
"gene_symbol": "PDLIM7",
"hgnc_id": 22958,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000834255.1",
"gene_symbol": "PDLIM7-AS1",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.112T>C",
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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
}