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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: 12-112866785-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112866785&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 112866785,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001143854.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "NM_001143854.2",
"protein_id": "NP_001137326.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 694,
"cds_start": 389,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389385.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143854.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "ENST00000389385.9",
"protein_id": "ENSP00000374036.4",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 694,
"cds_start": 389,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001143854.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389385.9"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.377C>A",
"hgvs_p": "p.Thr126Asn",
"transcript": "ENST00000551052.5",
"protein_id": "ENSP00000448297.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 690,
"cds_start": 377,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551052.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "NM_001347952.2",
"protein_id": "NP_001334881.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 694,
"cds_start": 389,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347952.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "NM_001347953.1",
"protein_id": "NP_001334882.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 694,
"cds_start": 389,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347953.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "NM_001347954.2",
"protein_id": "NP_001334883.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 694,
"cds_start": 389,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347954.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "ENST00000415485.7",
"protein_id": "ENSP00000405357.3",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 694,
"cds_start": 389,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415485.7"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "ENST00000543106.6",
"protein_id": "ENSP00000440384.2",
"transcript_support_level": 2,
"aa_start": 130,
"aa_end": null,
"aa_length": 694,
"cds_start": 389,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543106.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "ENST00000942157.1",
"protein_id": "ENSP00000612216.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 694,
"cds_start": 389,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942157.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "ENST00000942158.1",
"protein_id": "ENSP00000612217.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 694,
"cds_start": 389,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942158.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "ENST00000942159.1",
"protein_id": "ENSP00000612218.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 694,
"cds_start": 389,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942159.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.377C>A",
"hgvs_p": "p.Thr126Asn",
"transcript": "NM_014954.4",
"protein_id": "NP_055769.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 690,
"cds_start": 377,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014954.4"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.242C>A",
"hgvs_p": "p.Thr81Asn",
"transcript": "ENST00000548866.5",
"protein_id": "ENSP00000450347.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 645,
"cds_start": 242,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548866.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.188C>A",
"hgvs_p": "p.Thr63Asn",
"transcript": "NM_001347955.2",
"protein_id": "NP_001334884.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 627,
"cds_start": 188,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347955.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "ENST00000551593.5",
"protein_id": "ENSP00000446780.1",
"transcript_support_level": 4,
"aa_start": 130,
"aa_end": null,
"aa_length": 180,
"cds_start": 389,
"cds_end": null,
"cds_length": 545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551593.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "ENST00000547728.5",
"protein_id": "ENSP00000449613.1",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 162,
"cds_start": 389,
"cds_end": null,
"cds_length": 491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547728.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn",
"transcript": "ENST00000553114.5",
"protein_id": "ENSP00000450216.1",
"transcript_support_level": 4,
"aa_start": 130,
"aa_end": null,
"aa_length": 132,
"cds_start": 389,
"cds_end": null,
"cds_length": 401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553114.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.188C>A",
"hgvs_p": "p.Thr63Asn",
"transcript": "ENST00000550901.5",
"protein_id": "ENSP00000448100.1",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 79,
"cds_start": 188,
"cds_end": null,
"cds_length": 242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550901.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.377C>A",
"hgvs_p": "p.Thr126Asn",
"transcript": "XM_047428540.1",
"protein_id": "XP_047284496.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 690,
"cds_start": 377,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428540.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "n.*315C>A",
"hgvs_p": null,
"transcript": "ENST00000547099.5",
"protein_id": "ENSP00000448662.1",
"transcript_support_level": 5,
"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": "ENST00000547099.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "n.283C>A",
"hgvs_p": null,
"transcript": "ENST00000547222.1",
"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": "ENST00000547222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "n.793C>A",
"hgvs_p": null,
"transcript": "NR_145126.2",
"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_145126.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 23,
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"transcript": "NR_145127.2",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "NR_145127.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
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"gene_symbol": "RPH3A",
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"hgvs_c": "n.*315C>A",
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"transcript": "ENST00000547099.5",
"protein_id": "ENSP00000448662.1",
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"cds_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000547099.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "RPH3A",
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"hgvs_c": "c.*8C>A",
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"transcript": "ENST00000547840.5",
"protein_id": "ENSP00000450382.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547840.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"hgvs_c": "c.*12C>A",
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"transcript": "ENST00000551198.5",
"protein_id": "ENSP00000447083.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551198.5"
}
],
"gene_symbol": "RPH3A",
"gene_hgnc_id": 17056,
"dbsnp": "rs764003900",
"frequency_reference_population": 0.000018639283,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000198999,
"gnomad_genomes_af": 0.00000656996,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42473119497299194,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.462,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1189,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.041,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001143854.2",
"gene_symbol": "RPH3A",
"hgnc_id": 17056,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.389C>A",
"hgvs_p": "p.Thr130Asn"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}