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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: 7-77920356-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=77920356&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 77920356,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001366089.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Thr251Asn",
"transcript": "NM_001395272.1",
"protein_id": "NP_001382201.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 751,
"cds_start": 752,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000422959.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395272.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Thr251Asn",
"transcript": "ENST00000422959.8",
"protein_id": "ENSP00000403042.2",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 751,
"cds_start": 752,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395272.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422959.8"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.854C>A",
"hgvs_p": "p.Thr285Asn",
"transcript": "ENST00000248550.7",
"protein_id": "ENSP00000248550.7",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 785,
"cds_start": 854,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248550.7"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Thr247Asn",
"transcript": "ENST00000307305.12",
"protein_id": "ENSP00000307699.8",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 747,
"cds_start": 740,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307305.12"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Thr247Asn",
"transcript": "ENST00000275575.11",
"protein_id": "ENSP00000275575.7",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 695,
"cds_start": 740,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275575.11"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Thr251Asn",
"transcript": "ENST00000450574.5",
"protein_id": "ENSP00000387355.1",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 356,
"cds_start": 752,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450574.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Thr247Asn",
"transcript": "ENST00000415251.6",
"protein_id": "ENSP00000408035.2",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 352,
"cds_start": 740,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415251.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "n.775C>A",
"hgvs_p": null,
"transcript": "ENST00000454592.5",
"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": "ENST00000454592.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.854C>A",
"hgvs_p": "p.Thr285Asn",
"transcript": "NM_001366089.1",
"protein_id": "NP_001353018.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 785,
"cds_start": 854,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366089.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.854C>A",
"hgvs_p": "p.Thr285Asn",
"transcript": "ENST00000416283.6",
"protein_id": "ENSP00000400958.3",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 785,
"cds_start": 854,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416283.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.842C>A",
"hgvs_p": "p.Thr281Asn",
"transcript": "ENST00000888885.1",
"protein_id": "ENSP00000558944.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 781,
"cds_start": 842,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888885.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Thr251Asn",
"transcript": "NM_001127357.2",
"protein_id": "NP_001120829.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 751,
"cds_start": 752,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127357.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Thr251Asn",
"transcript": "ENST00000968118.1",
"protein_id": "ENSP00000638177.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 751,
"cds_start": 752,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968118.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Thr247Asn",
"transcript": "NM_001127358.2",
"protein_id": "NP_001120830.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 747,
"cds_start": 740,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127358.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Thr247Asn",
"transcript": "NM_001366086.1",
"protein_id": "NP_001353015.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 747,
"cds_start": 740,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366086.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Thr247Asn",
"transcript": "NM_020432.5",
"protein_id": "NP_065165.3",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 747,
"cds_start": 740,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020432.5"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Thr247Asn",
"transcript": "ENST00000888886.1",
"protein_id": "ENSP00000558945.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 747,
"cds_start": 740,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888886.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Thr247Asn",
"transcript": "ENST00000888889.1",
"protein_id": "ENSP00000558948.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 747,
"cds_start": 740,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888889.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.683C>A",
"hgvs_p": "p.Thr228Asn",
"transcript": "ENST00000888887.1",
"protein_id": "ENSP00000558946.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 728,
"cds_start": 683,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888887.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Thr247Asn",
"transcript": "ENST00000968114.1",
"protein_id": "ENSP00000638173.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 718,
"cds_start": 740,
"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": "ENST00000968114.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Thr251Asn",
"transcript": "NM_001395271.1",
"protein_id": "NP_001382200.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 708,
"cds_start": 752,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395271.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.752C>A",
"hgvs_p": "p.Thr251Asn",
"transcript": "ENST00000968116.1",
"protein_id": "ENSP00000638175.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 708,
"cds_start": 752,
"cds_end": null,
"cds_length": 2127,
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"aa_start": 251,
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"aa_length": 678,
"cds_start": 752,
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"cds_length": 2037,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516423.4"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
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"hgvs_c": "c.740C>A",
"hgvs_p": "p.Thr247Asn",
"transcript": "XM_047420640.1",
"protein_id": "XP_047276596.1",
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"aa_start": 247,
"aa_end": null,
"aa_length": 660,
"cds_start": 740,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420640.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "c.329C>A",
"hgvs_p": "p.Thr110Asn",
"transcript": "XM_011516424.3",
"protein_id": "XP_011514726.1",
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"aa_start": 110,
"aa_end": null,
"aa_length": 610,
"cds_start": 329,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516424.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "n.1553C>A",
"hgvs_p": null,
"transcript": "ENST00000479515.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000479515.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"hgvs_c": "n.-69C>A",
"hgvs_p": null,
"transcript": "ENST00000468351.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000468351.1"
}
],
"gene_symbol": "PHTF2",
"gene_hgnc_id": 13411,
"dbsnp": "rs201907528",
"frequency_reference_population": 0.000042248044,
"hom_count_reference_population": 0,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000411733,
"gnomad_genomes_af": 0.000052532,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10619774460792542,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
"alphamissense_score": 0.1284,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.38,
"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_001366089.1",
"gene_symbol": "PHTF2",
"hgnc_id": 13411,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.854C>A",
"hgvs_p": "p.Thr285Asn"
}
],
"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
}