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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: 3-48689684-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48689684&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48689684,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016291.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "NM_016291.4",
"protein_id": "NP_057375.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": "ENST00000328631.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016291.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000328631.10",
"protein_id": "ENSP00000331103.5",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": "NM_016291.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328631.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "n.931C>T",
"hgvs_p": null,
"transcript": "ENST00000479914.5",
"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": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479914.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Arg235Cys",
"transcript": "ENST00000921848.1",
"protein_id": "ENSP00000591907.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 449,
"cds_start": 703,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921848.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Arg235Cys",
"transcript": "ENST00000921850.1",
"protein_id": "ENSP00000591909.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 449,
"cds_start": 703,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921850.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Arg235Cys",
"transcript": "ENST00000921857.1",
"protein_id": "ENSP00000591916.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 449,
"cds_start": 703,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921857.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.703C>T",
"hgvs_p": "p.Arg235Cys",
"transcript": "ENST00000946886.1",
"protein_id": "ENSP00000616945.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 449,
"cds_start": 703,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946886.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233Cys",
"transcript": "ENST00000904745.1",
"protein_id": "ENSP00000574804.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 447,
"cds_start": 697,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904745.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226Cys",
"transcript": "ENST00000946882.1",
"protein_id": "ENSP00000616941.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 440,
"cds_start": 676,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946882.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "NM_001005909.3",
"protein_id": "NP_001005909.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005909.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000904743.1",
"protein_id": "ENSP00000574802.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904743.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000904744.1",
"protein_id": "ENSP00000574803.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904744.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000904746.1",
"protein_id": "ENSP00000574805.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904746.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000904748.1",
"protein_id": "ENSP00000574807.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904748.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000921847.1",
"protein_id": "ENSP00000591906.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921847.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000921849.1",
"protein_id": "ENSP00000591908.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921849.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000921851.1",
"protein_id": "ENSP00000591910.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921851.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000921852.1",
"protein_id": "ENSP00000591911.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921852.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000921853.1",
"protein_id": "ENSP00000591912.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921853.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000921854.1",
"protein_id": "ENSP00000591913.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921854.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000921855.1",
"protein_id": "ENSP00000591914.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921855.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys",
"transcript": "ENST00000921856.1",
"protein_id": "ENSP00000591915.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 426,
"cds_start": 634,
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904751.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "c.640-911C>T",
"hgvs_p": null,
"transcript": "ENST00000904750.1",
"protein_id": "ENSP00000574809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": null,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"hgvs_c": "n.588C>T",
"hgvs_p": null,
"transcript": "ENST00000491686.1",
"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": 662,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491686.1"
}
],
"gene_symbol": "IP6K2",
"gene_hgnc_id": 17313,
"dbsnp": "rs1290709535",
"frequency_reference_population": 0.000011153881,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116308,
"gnomad_genomes_af": 0.0000065722,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4879687428474426,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.313,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1236,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.715,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_016291.4",
"gene_symbol": "IP6K2",
"hgnc_id": 17313,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Arg212Cys"
}
],
"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
}