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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: 9-37305599-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37305599&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37305599,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032226.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "NM_032226.3",
"protein_id": "NP_115602.2",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336755.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032226.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000336755.10",
"protein_id": "ENSP00000337839.5",
"transcript_support_level": 2,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032226.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336755.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000534928.5",
"protein_id": "ENSP00000443113.2",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534928.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "n.1116C>T",
"hgvs_p": null,
"transcript": "ENST00000461038.5",
"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": "pseudogene",
"feature": "ENST00000461038.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.1136C>T",
"hgvs_p": "p.Pro379Leu",
"transcript": "ENST00000962617.1",
"protein_id": "ENSP00000632676.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 643,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962617.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "NM_001289119.2",
"protein_id": "NP_001276048.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289119.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "NM_001289120.2",
"protein_id": "NP_001276049.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289120.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "NM_001289121.2",
"protein_id": "NP_001276050.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289121.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000908248.1",
"protein_id": "ENSP00000578307.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908248.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000908251.1",
"protein_id": "ENSP00000578310.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908251.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000908252.1",
"protein_id": "ENSP00000578311.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908252.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000908254.1",
"protein_id": "ENSP00000578313.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908254.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000908256.1",
"protein_id": "ENSP00000578315.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908256.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000908258.1",
"protein_id": "ENSP00000578317.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908258.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000936928.1",
"protein_id": "ENSP00000606987.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936928.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000936929.1",
"protein_id": "ENSP00000606988.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936929.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000936931.1",
"protein_id": "ENSP00000606990.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936931.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000936932.1",
"protein_id": "ENSP00000606991.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936932.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000936933.1",
"protein_id": "ENSP00000606992.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936933.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "ENST00000936934.1",
"protein_id": "ENSP00000606993.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 543,
"cds_start": 836,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936934.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Pro278Leu",
"transcript": "ENST00000936927.1",
"protein_id": "ENSP00000606986.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 542,
"cds_start": 833,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936927.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "c.830C>T",
"hgvs_p": "p.Pro277Leu",
"transcript": "ENST00000936936.1",
"protein_id": "ENSP00000606995.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 541,
"cds_start": 830,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463625.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "n.376C>T",
"hgvs_p": null,
"transcript": "ENST00000488607.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000488607.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"hgvs_c": "n.378C>T",
"hgvs_p": null,
"transcript": "NR_110317.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_110317.1"
}
],
"gene_symbol": "ZCCHC7",
"gene_hgnc_id": 26209,
"dbsnp": "rs140562221",
"frequency_reference_population": 0.000009913701,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000889279,
"gnomad_genomes_af": 0.0000197278,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8740569353103638,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.336,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3407,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.268,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032226.3",
"gene_symbol": "ZCCHC7",
"hgnc_id": 26209,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu"
}
],
"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
}