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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: 22-19183580-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19183580&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19183580,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007098.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4637A>G",
"hgvs_p": "p.Asp1546Gly",
"transcript": "NM_007098.4",
"protein_id": "NP_009029.3",
"transcript_support_level": null,
"aa_start": 1546,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4637,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000427926.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007098.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4637A>G",
"hgvs_p": "p.Asp1546Gly",
"transcript": "ENST00000427926.6",
"protein_id": "ENSP00000441158.1",
"transcript_support_level": 1,
"aa_start": 1546,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4637,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007098.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427926.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4466A>G",
"hgvs_p": "p.Asp1489Gly",
"transcript": "ENST00000621271.4",
"protein_id": "ENSP00000485020.1",
"transcript_support_level": 1,
"aa_start": 1489,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4466,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621271.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.4730A>G",
"hgvs_p": null,
"transcript": "ENST00000615606.4",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000615606.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.*792A>G",
"hgvs_p": null,
"transcript": "ENST00000617103.4",
"protein_id": "ENSP00000480709.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617103.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.*792A>G",
"hgvs_p": null,
"transcript": "ENST00000617103.4",
"protein_id": "ENSP00000480709.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617103.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4637A>G",
"hgvs_p": "p.Asp1546Gly",
"transcript": "ENST00000965499.1",
"protein_id": "ENSP00000635558.1",
"transcript_support_level": null,
"aa_start": 1546,
"aa_end": null,
"aa_length": 1640,
"cds_start": 4637,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965499.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4637A>G",
"hgvs_p": "p.Asp1546Gly",
"transcript": "ENST00000897134.1",
"protein_id": "ENSP00000567193.1",
"transcript_support_level": null,
"aa_start": 1546,
"aa_end": null,
"aa_length": 1632,
"cds_start": 4637,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897134.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4577A>G",
"hgvs_p": "p.Asp1526Gly",
"transcript": "ENST00000965503.1",
"protein_id": "ENSP00000635562.1",
"transcript_support_level": null,
"aa_start": 1526,
"aa_end": null,
"aa_length": 1620,
"cds_start": 4577,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965503.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4529A>G",
"hgvs_p": "p.Asp1510Gly",
"transcript": "ENST00000965502.1",
"protein_id": "ENSP00000635561.1",
"transcript_support_level": null,
"aa_start": 1510,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4529,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965502.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4523A>G",
"hgvs_p": "p.Asp1508Gly",
"transcript": "ENST00000897132.1",
"protein_id": "ENSP00000567191.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4523,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897132.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4484A>G",
"hgvs_p": "p.Asp1495Gly",
"transcript": "ENST00000932470.1",
"protein_id": "ENSP00000602529.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4484,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932470.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4472A>G",
"hgvs_p": "p.Asp1491Gly",
"transcript": "ENST00000965514.1",
"protein_id": "ENSP00000635573.1",
"transcript_support_level": null,
"aa_start": 1491,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4472,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965514.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4469A>G",
"hgvs_p": "p.Asp1490Gly",
"transcript": "ENST00000932468.1",
"protein_id": "ENSP00000602527.1",
"transcript_support_level": null,
"aa_start": 1490,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4469,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932468.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4466A>G",
"hgvs_p": "p.Asp1489Gly",
"transcript": "NM_001835.4",
"protein_id": "NP_001826.3",
"transcript_support_level": null,
"aa_start": 1489,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4466,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001835.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4466A>G",
"hgvs_p": "p.Asp1489Gly",
"transcript": "ENST00000965511.1",
"protein_id": "ENSP00000635570.1",
"transcript_support_level": null,
"aa_start": 1489,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4466,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965511.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4463A>G",
"hgvs_p": "p.Asp1488Gly",
"transcript": "ENST00000932469.1",
"protein_id": "ENSP00000602528.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4463,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932469.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4463A>G",
"hgvs_p": "p.Asp1488Gly",
"transcript": "ENST00000965515.1",
"protein_id": "ENSP00000635574.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4463,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965515.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4466A>G",
"hgvs_p": "p.Asp1489Gly",
"transcript": "ENST00000897133.1",
"protein_id": "ENSP00000567192.1",
"transcript_support_level": null,
"aa_start": 1489,
"aa_end": null,
"aa_length": 1575,
"cds_start": 4466,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897133.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4424A>G",
"hgvs_p": "p.Asp1475Gly",
"transcript": "ENST00000965496.1",
"protein_id": "ENSP00000635555.1",
"transcript_support_level": null,
"aa_start": 1475,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4424,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965496.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4364A>G",
"hgvs_p": "p.Asp1455Gly",
"transcript": "ENST00000965498.1",
"protein_id": "ENSP00000635557.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4364,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965498.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.4355A>G",
"hgvs_p": "p.Asp1452Gly",
"transcript": "ENST00000965495.1",
"protein_id": "ENSP00000635554.1",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1546,
"cds_start": 4355,
"cds_end": 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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},
{
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],
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"biotype": "pseudogene",
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}
],
"gene_symbol": "CLTCL1",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7045222520828247,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.166,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.9,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007098.4",
"gene_symbol": "CLTCL1",
"hgnc_id": 2093,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4637A>G",
"hgvs_p": "p.Asp1546Gly"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000804544.1",
"gene_symbol": "LINC01311",
"hgnc_id": 50503,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.304-761T>C",
"hgvs_p": null
}
],
"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
}