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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: 11-7597648-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=7597648&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 7597648,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001351853.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "NM_003621.5",
"protein_id": "NP_003612.3",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 876,
"cds_start": 461,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299492.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003621.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "ENST00000299492.9",
"protein_id": "ENSP00000299492.4",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 876,
"cds_start": 461,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003621.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299492.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.-14A>G",
"hgvs_p": null,
"transcript": "ENST00000533792.5",
"protein_id": "ENSP00000436498.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": null,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533792.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "NM_001351853.2",
"protein_id": "NP_001338782.2",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 928,
"cds_start": 461,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351853.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "ENST00000684123.1",
"protein_id": "ENSP00000507842.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 927,
"cds_start": 461,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684123.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "NM_001351854.2",
"protein_id": "NP_001338783.2",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 917,
"cds_start": 461,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351854.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "NM_001351855.2",
"protein_id": "NP_001338784.2",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 887,
"cds_start": 461,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351855.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "NM_001351856.2",
"protein_id": "NP_001338785.2",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 878,
"cds_start": 461,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351856.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "NM_001351862.2",
"protein_id": "NP_001338791.2",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 876,
"cds_start": 461,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351862.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "ENST00000857461.1",
"protein_id": "ENSP00000527520.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 876,
"cds_start": 461,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857461.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "ENST00000857462.1",
"protein_id": "ENSP00000527521.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 876,
"cds_start": 461,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857462.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "ENST00000857460.1",
"protein_id": "ENSP00000527519.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 875,
"cds_start": 461,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857460.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "ENST00000933098.1",
"protein_id": "ENSP00000603157.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 862,
"cds_start": 461,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933098.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Asn77Ser",
"transcript": "NM_001351857.2",
"protein_id": "NP_001338786.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 850,
"cds_start": 230,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351857.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Asn77Ser",
"transcript": "NM_001351858.2",
"protein_id": "NP_001338787.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 840,
"cds_start": 230,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351858.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Asn77Ser",
"transcript": "NM_001351859.2",
"protein_id": "NP_001338788.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 810,
"cds_start": 230,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351859.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Asn77Ser",
"transcript": "ENST00000684215.1",
"protein_id": "ENSP00000507694.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 810,
"cds_start": 230,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684215.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.254A>G",
"hgvs_p": "p.Asn85Ser",
"transcript": "NM_001351860.2",
"protein_id": "NP_001338789.2",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 807,
"cds_start": 254,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351860.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Asn77Ser",
"transcript": "NM_001351861.2",
"protein_id": "NP_001338790.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 799,
"cds_start": 230,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351861.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.Asn42Ser",
"transcript": "NM_001256568.2",
"protein_id": "NP_001243497.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 764,
"cds_start": 125,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256568.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.Asn42Ser",
"transcript": "ENST00000528883.5",
"protein_id": "ENSP00000435469.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 764,
"cds_start": 125,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528883.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser",
"transcript": "ENST00000527790.5",
"protein_id": "ENSP00000434981.1",
"transcript_support_level": 3,
"aa_start": 154,
"aa_end": null,
"aa_length": 169,
"cds_start": 461,
"cds_end": null,
"cds_length": 512,
"cdna_start": null,
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"biotype": "pseudogene",
"feature": "XR_007062577.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "n.316+20216A>G",
"hgvs_p": null,
"transcript": "ENST00000529021.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000529021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "n.965+4424A>G",
"hgvs_p": null,
"transcript": "ENST00000532926.5",
"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": "ENST00000532926.5"
}
],
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"dbsnp": "rs538034375",
"frequency_reference_population": 0.00010904179,
"hom_count_reference_population": 0,
"allele_count_reference_population": 176,
"gnomad_exomes_af": 0.000116298,
"gnomad_genomes_af": 0.000039397,
"gnomad_exomes_ac": 170,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19944879412651062,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.1196,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.035,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001351853.2",
"gene_symbol": "PPFIBP2",
"hgnc_id": 9250,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.461A>G",
"hgvs_p": "p.Asn154Ser"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007062577.1",
"gene_symbol": "LOC105376535",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.34T>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
}