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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: 9-128837747-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128837747&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128837747,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001414398.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "NM_004059.5",
"protein_id": "NP_004050.3",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 422,
"cds_start": 505,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302586.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004059.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "ENST00000302586.8",
"protein_id": "ENSP00000302227.3",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 422,
"cds_start": 505,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004059.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302586.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": null,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Gly262Ser",
"transcript": "ENST00000651925.1",
"protein_id": "ENSP00000498386.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 515,
"cds_start": 784,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "n.651G>A",
"hgvs_p": null,
"transcript": "ENST00000462722.5",
"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": "ENST00000462722.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1-SPOUT1",
"gene_hgnc_id": null,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "NM_001414398.1",
"protein_id": "NP_001401327.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 825,
"cds_start": 505,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414398.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Gly263Ser",
"transcript": "NM_001287390.3",
"protein_id": "NP_001274319.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 516,
"cds_start": 787,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287390.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Gly263Ser",
"transcript": "NM_001352994.2",
"protein_id": "NP_001339923.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 516,
"cds_start": 787,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352994.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Gly263Ser",
"transcript": "ENST00000436267.7",
"protein_id": "ENSP00000399415.2",
"transcript_support_level": 2,
"aa_start": 263,
"aa_end": null,
"aa_length": 516,
"cds_start": 787,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436267.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Gly262Ser",
"transcript": "NM_001352995.2",
"protein_id": "NP_001339924.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 515,
"cds_start": 784,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352995.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Gly262Ser",
"transcript": "NM_001352996.2",
"protein_id": "NP_001339925.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 515,
"cds_start": 784,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352996.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Gly203Ser",
"transcript": "NM_001352997.2",
"protein_id": "NP_001339926.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 456,
"cds_start": 607,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352997.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Gly203Ser",
"transcript": "NM_001352998.2",
"protein_id": "NP_001339927.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 456,
"cds_start": 607,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352998.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "ENST00000896302.1",
"protein_id": "ENSP00000566361.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 433,
"cds_start": 505,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896302.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "ENST00000896303.1",
"protein_id": "ENSP00000566362.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 433,
"cds_start": 505,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896303.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "ENST00000896306.1",
"protein_id": "ENSP00000566365.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 433,
"cds_start": 505,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896306.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "ENST00000964593.1",
"protein_id": "ENSP00000634652.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 433,
"cds_start": 505,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964593.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "NM_001122671.2",
"protein_id": "NP_001116143.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 422,
"cds_start": 505,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122671.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "NM_001352988.2",
"protein_id": "NP_001339917.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 422,
"cds_start": 505,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352988.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "NM_001352989.2",
"protein_id": "NP_001339918.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 422,
"cds_start": 505,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352989.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "NM_001352990.2",
"protein_id": "NP_001339919.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 422,
"cds_start": 505,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352990.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "NM_001352991.2",
"protein_id": "NP_001339920.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 422,
"cds_start": 505,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352991.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser",
"transcript": "NM_001352992.2",
"protein_id": "NP_001339921.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 422,
"cds_start": 505,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352992.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
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"hgvs_c": "n.1233G>A",
"hgvs_p": null,
"transcript": "NR_148225.1",
"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_148225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1-SPOUT1",
"gene_hgnc_id": null,
"hgvs_c": "n.565G>A",
"hgvs_p": null,
"transcript": "NR_182310.1",
"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_182310.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1-SPOUT1",
"gene_hgnc_id": null,
"hgvs_c": "n.565G>A",
"hgvs_p": null,
"transcript": "NR_182311.1",
"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_182311.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYAT1",
"gene_hgnc_id": 1564,
"hgvs_c": "n.*4G>A",
"hgvs_p": null,
"transcript": "ENST00000474824.1",
"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": "pseudogene",
"feature": "ENST00000474824.1"
}
],
"gene_symbol": "KYAT1-SPOUT1",
"gene_hgnc_id": null,
"dbsnp": "rs572629163",
"frequency_reference_population": 0.000024162251,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000157335,
"gnomad_genomes_af": 0.000105096,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.025500386953353882,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.0637,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.461,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001414398.1",
"gene_symbol": "KYAT1-SPOUT1",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Ser"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001287390.3",
"gene_symbol": "KYAT1",
"hgnc_id": 1564,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Gly263Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}