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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: 1-15301241-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15301241&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 15301241,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001391957.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "NM_001391957.1",
"protein_id": "NP_001378886.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1479,
"cds_start": 715,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000688493.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391957.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "ENST00000688493.1",
"protein_id": "ENSP00000509124.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1479,
"cds_start": 715,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001391957.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688493.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "ENST00000683790.1",
"protein_id": "ENSP00000506973.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1479,
"cds_start": 715,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683790.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "ENST00000968213.1",
"protein_id": "ENSP00000638272.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1433,
"cds_start": 715,
"cds_end": null,
"cds_length": 4302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968213.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "NM_052929.2",
"protein_id": "NP_443161.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1412,
"cds_start": 715,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052929.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "ENST00000358897.8",
"protein_id": "ENSP00000351770.4",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 1412,
"cds_start": 715,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358897.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "ENST00000375998.8",
"protein_id": "ENSP00000365166.4",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 1412,
"cds_start": 715,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375998.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "ENST00000940095.1",
"protein_id": "ENSP00000610154.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1397,
"cds_start": 715,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940095.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_017000198.3",
"protein_id": "XP_016855687.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1531,
"cds_start": 766,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000198.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_017000199.3",
"protein_id": "XP_016855688.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1531,
"cds_start": 766,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000199.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_011540576.3",
"protein_id": "XP_011538878.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1530,
"cds_start": 766,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540576.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "XM_011540577.3",
"protein_id": "XP_011538879.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1514,
"cds_start": 715,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540577.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_017000200.2",
"protein_id": "XP_016855689.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1513,
"cds_start": 766,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000200.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_017000201.2",
"protein_id": "XP_016855690.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1508,
"cds_start": 766,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000201.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_011540581.4",
"protein_id": "XP_011538883.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1496,
"cds_start": 766,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540581.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_011540582.4",
"protein_id": "XP_011538884.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1496,
"cds_start": 766,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540582.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_047443734.1",
"protein_id": "XP_047299690.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1496,
"cds_start": 766,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443734.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_017000202.2",
"protein_id": "XP_016855691.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1495,
"cds_start": 766,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000202.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_011540584.4",
"protein_id": "XP_011538886.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1492,
"cds_start": 766,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540584.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_017000203.3",
"protein_id": "XP_016855692.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1478,
"cds_start": 766,
"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": "XM_017000203.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "XM_047443737.1",
"protein_id": "XP_047299693.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1478,
"cds_start": 715,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443737.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "XM_024452887.2",
"protein_id": "XP_024308655.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1469,
"cds_start": 766,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443846.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys",
"transcript": "XM_047443847.1",
"protein_id": "XP_047299803.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 766,
"cds_start": 715,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443847.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"hgvs_c": "c.729+4448C>T",
"hgvs_p": null,
"transcript": "XM_017000207.3",
"protein_id": "XP_016855696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1452,
"cds_start": null,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000207.3"
}
],
"gene_symbol": "FHAD1",
"gene_hgnc_id": 29408,
"dbsnp": "rs1012646814",
"frequency_reference_population": 0.000024491637,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000250093,
"gnomad_genomes_af": 0.0000197278,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35590630769729614,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.395,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4152,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.867,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001391957.1",
"gene_symbol": "FHAD1",
"hgnc_id": 29408,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Cys"
}
],
"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
}