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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: 15-72199654-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72199654&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72199654,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001206796.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "NM_002654.6",
"protein_id": "NP_002645.3",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335181.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002654.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "ENST00000335181.10",
"protein_id": "ENSP00000334983.5",
"transcript_support_level": 1,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002654.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335181.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1697C>T",
"hgvs_p": "p.Pro566Leu",
"transcript": "ENST00000565184.6",
"protein_id": "ENSP00000455736.2",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 566,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565184.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "ENST00000568459.5",
"protein_id": "ENSP00000456970.1",
"transcript_support_level": 1,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568459.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "n.2391C>T",
"hgvs_p": null,
"transcript": "ENST00000564440.5",
"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": "ENST00000564440.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "n.1683C>T",
"hgvs_p": null,
"transcript": "ENST00000565143.1",
"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": "ENST00000565143.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1814C>T",
"hgvs_p": "p.Pro605Leu",
"transcript": "NM_001206796.3",
"protein_id": "NP_001193725.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 605,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206796.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1814C>T",
"hgvs_p": "p.Pro605Leu",
"transcript": "NM_001411081.1",
"protein_id": "NP_001398010.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 605,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411081.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1814C>T",
"hgvs_p": "p.Pro605Leu",
"transcript": "ENST00000565154.6",
"protein_id": "ENSP00000455901.2",
"transcript_support_level": 2,
"aa_start": 605,
"aa_end": null,
"aa_length": 605,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565154.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1814C>T",
"hgvs_p": "p.Pro605Leu",
"transcript": "ENST00000698741.1",
"protein_id": "ENSP00000513903.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 605,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698741.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1778C>T",
"hgvs_p": "p.Pro593Leu",
"transcript": "ENST00000969850.1",
"protein_id": "ENSP00000639909.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 593,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969850.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1745C>T",
"hgvs_p": "p.Pro582Leu",
"transcript": "ENST00000933441.1",
"protein_id": "ENSP00000603500.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 582,
"cds_start": 1745,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933441.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1697C>T",
"hgvs_p": "p.Pro566Leu",
"transcript": "NM_001316318.2",
"protein_id": "NP_001303247.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 566,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316318.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1607C>T",
"hgvs_p": "p.Pro536Leu",
"transcript": "NM_001206799.2",
"protein_id": "NP_001193728.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 536,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206799.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "NM_182470.4",
"protein_id": "NP_872270.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182470.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "NM_182471.4",
"protein_id": "NP_872271.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182471.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "ENST00000319622.10",
"protein_id": "ENSP00000320171.6",
"transcript_support_level": 2,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319622.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "ENST00000891959.1",
"protein_id": "ENSP00000562018.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891959.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "ENST00000891960.1",
"protein_id": "ENSP00000562019.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891960.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "ENST00000891961.1",
"protein_id": "ENSP00000562020.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891961.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "ENST00000891962.1",
"protein_id": "ENSP00000562021.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891962.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Pro531Leu",
"transcript": "ENST00000891963.1",
"protein_id": "ENSP00000562022.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 531,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891963.1"
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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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{
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],
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"biotype": "pseudogene",
"feature": "ENST00000793553.1"
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],
"gene_symbol": "PKM",
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"dbsnp": "rs371099168",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5575458407402039,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.825,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.355,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.579,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001206796.3",
"gene_symbol": "PKM",
"hgnc_id": 9021,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1814C>T",
"hgvs_p": "p.Pro605Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000793552.1",
"gene_symbol": "ENSG00000303314",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.165-9032G>A",
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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
}