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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: 5-178146195-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178146195&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 178146195,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022762.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "NM_022762.5",
"protein_id": "NP_073599.2",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313386.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022762.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000313386.9",
"protein_id": "ENSP00000320623.4",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022762.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313386.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Ser313Asn",
"transcript": "ENST00000940697.1",
"protein_id": "ENSP00000610756.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 447,
"cds_start": 938,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940697.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Ser313Asn",
"transcript": "ENST00000940698.1",
"protein_id": "ENSP00000610757.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 447,
"cds_start": 938,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940698.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Ser267Asn",
"transcript": "ENST00000890015.1",
"protein_id": "ENSP00000560074.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 401,
"cds_start": 800,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890015.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Ser267Asn",
"transcript": "ENST00000890019.1",
"protein_id": "ENSP00000560078.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 401,
"cds_start": 800,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890019.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "NM_001288794.2",
"protein_id": "NP_001275723.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288794.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000515098.5",
"protein_id": "ENSP00000420875.1",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515098.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890008.1",
"protein_id": "ENSP00000560067.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890008.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890009.1",
"protein_id": "ENSP00000560068.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890009.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890010.1",
"protein_id": "ENSP00000560069.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890010.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890011.1",
"protein_id": "ENSP00000560070.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890011.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890012.1",
"protein_id": "ENSP00000560071.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890012.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890013.1",
"protein_id": "ENSP00000560072.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890013.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890014.1",
"protein_id": "ENSP00000560073.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890014.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890016.1",
"protein_id": "ENSP00000560075.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890016.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890017.1",
"protein_id": "ENSP00000560076.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890017.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890018.1",
"protein_id": "ENSP00000560077.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890018.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000890020.1",
"protein_id": "ENSP00000560079.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890020.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000940695.1",
"protein_id": "ENSP00000610754.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940695.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000940696.1",
"protein_id": "ENSP00000610755.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940696.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000940699.1",
"protein_id": "ENSP00000610758.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 393,
"cds_start": 776,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000507575.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "n.226G>A",
"hgvs_p": null,
"transcript": "ENST00000507937.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000507937.1"
},
{
"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": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "n.1885G>A",
"hgvs_p": null,
"transcript": "ENST00000513162.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000513162.5"
},
{
"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": "RMND5B",
"gene_hgnc_id": 26181,
"hgvs_c": "n.1880G>A",
"hgvs_p": null,
"transcript": "ENST00000515360.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000515360.5"
}
],
"gene_symbol": "RMND5B",
"gene_hgnc_id": 26181,
"dbsnp": "rs552043062",
"frequency_reference_population": 0.000013009524,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136813,
"gnomad_genomes_af": 0.00000656357,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04162395000457764,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.1104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.329,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022762.5",
"gene_symbol": "RMND5B",
"hgnc_id": 26181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn"
}
],
"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
}