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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: 4-185372920-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=185372920&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 185372920,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018409.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "NM_001377440.1",
"protein_id": "NP_001364369.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000505916.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377440.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "ENST00000505916.6",
"protein_id": "ENSP00000426203.1",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001377440.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505916.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "ENST00000328559.11",
"protein_id": "ENSP00000332681.7",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328559.11"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Arg",
"transcript": "ENST00000510776.5",
"protein_id": "ENSP00000424610.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 321,
"cds_start": 661,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510776.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "NM_001385601.1",
"protein_id": "NP_001372530.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385601.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "NM_018409.4",
"protein_id": "NP_060879.2",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018409.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "ENST00000927575.1",
"protein_id": "ENSP00000597634.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927575.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "ENST00000943162.1",
"protein_id": "ENSP00000613221.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943162.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "ENST00000943163.1",
"protein_id": "ENSP00000613222.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943163.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Arg",
"transcript": "NM_001385602.1",
"protein_id": "NP_001372531.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 346,
"cds_start": 736,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385602.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Arg",
"transcript": "ENST00000904434.1",
"protein_id": "ENSP00000574493.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 346,
"cds_start": 736,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904434.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "NM_001385603.1",
"protein_id": "NP_001372532.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 268,
"cds_start": 739,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385603.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "NM_001385604.1",
"protein_id": "NP_001372533.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 268,
"cds_start": 739,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385604.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Arg",
"transcript": "NM_001377441.3",
"protein_id": "NP_001364370.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 249,
"cds_start": 445,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377441.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Arg",
"transcript": "NM_001377442.1",
"protein_id": "NP_001364371.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 249,
"cds_start": 445,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377442.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Arg",
"transcript": "NM_001377443.1",
"protein_id": "NP_001364372.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 249,
"cds_start": 445,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377443.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Arg",
"transcript": "NM_001385605.1",
"protein_id": "NP_001372534.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 249,
"cds_start": 445,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385605.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Gly148Arg",
"transcript": "NM_001385606.1",
"protein_id": "NP_001372535.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 248,
"cds_start": 442,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385606.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "XM_017008410.3",
"protein_id": "XP_016863899.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008410.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "XM_024454134.2",
"protein_id": "XP_024309902.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454134.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "XM_024454135.2",
"protein_id": "XP_024309903.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 347,
"cds_start": 739,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454135.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Gly149Arg",
"transcript": "XM_011532111.4",
"protein_id": "XP_011530413.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 249,
"cds_start": 445,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532111.4"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SNX25",
"gene_hgnc_id": 21883,
"hgvs_c": "n.242+1855C>T",
"hgvs_p": null,
"transcript": "ENST00000514884.1",
"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": "ENST00000514884.1"
},
{
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SNX25",
"gene_hgnc_id": 21883,
"hgvs_c": "n.*2310+1855C>T",
"hgvs_p": null,
"transcript": "ENST00000850971.1",
"protein_id": "ENSP00000521053.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000850971.1"
},
{
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SNX25",
"gene_hgnc_id": 21883,
"hgvs_c": "n.3337+1855C>T",
"hgvs_p": null,
"transcript": "NR_186775.1",
"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_186775.1"
}
],
"gene_symbol": "LRP2BP",
"gene_hgnc_id": 25434,
"dbsnp": "rs148413560",
"frequency_reference_population": 0.00011774636,
"hom_count_reference_population": 0,
"allele_count_reference_population": 190,
"gnomad_exomes_af": 0.000118383,
"gnomad_genomes_af": 0.000111634,
"gnomad_exomes_ac": 173,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7013365030288696,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.359,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9717,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.883,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_018409.4",
"gene_symbol": "LRP2BP",
"hgnc_id": 25434,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000514884.1",
"gene_symbol": "SNX25",
"hgnc_id": 21883,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.242+1855C>T",
"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
}