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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: 10-110900406-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=110900406&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 110900406,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001195305.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "NM_001195305.3",
"protein_id": "NP_001182234.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 233,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000448814.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195305.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "ENST00000448814.7",
"protein_id": "ENSP00000436622.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 233,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001195305.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448814.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "ENST00000605742.5",
"protein_id": "ENSP00000474675.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 233,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605742.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.158G>A",
"hgvs_p": "p.Arg53His",
"transcript": "ENST00000423273.5",
"protein_id": "ENSP00000432274.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 67,
"cds_start": 158,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423273.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.*78G>A",
"hgvs_p": null,
"transcript": "ENST00000454061.5",
"protein_id": "ENSP00000433157.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454061.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "NM_001195306.2",
"protein_id": "NP_001182235.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 233,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195306.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "ENST00000652043.1",
"protein_id": "ENSP00000498430.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 233,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652043.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "ENST00000928056.1",
"protein_id": "ENSP00000598115.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 233,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928056.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "ENST00000928057.1",
"protein_id": "ENSP00000598116.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 233,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928057.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "ENST00000963483.1",
"protein_id": "ENSP00000633542.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 233,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963483.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56His",
"transcript": "NM_001243783.3",
"protein_id": "NP_001230712.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 70,
"cds_start": 167,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243783.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56His",
"transcript": "ENST00000436562.1",
"protein_id": "ENSP00000431936.1",
"transcript_support_level": 3,
"aa_start": 56,
"aa_end": null,
"aa_length": 70,
"cds_start": 167,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436562.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56His",
"transcript": "ENST00000447005.5",
"protein_id": "ENSP00000432849.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 70,
"cds_start": 167,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447005.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56His",
"transcript": "ENST00000651952.1",
"protein_id": "ENSP00000498552.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 70,
"cds_start": 167,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651952.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56His",
"transcript": "ENST00000652396.1",
"protein_id": "ENSP00000498843.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 70,
"cds_start": 167,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652396.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56His",
"transcript": "ENST00000652400.1",
"protein_id": "ENSP00000498614.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 70,
"cds_start": 167,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652400.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.158G>A",
"hgvs_p": "p.Arg53His",
"transcript": "NM_001195307.2",
"protein_id": "NP_001182236.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 67,
"cds_start": 158,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195307.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "XM_047426004.1",
"protein_id": "XP_047281960.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 92,
"cds_start": 233,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426004.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56His",
"transcript": "XM_047426005.1",
"protein_id": "XP_047281961.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 70,
"cds_start": 167,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426005.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "c.*78G>A",
"hgvs_p": null,
"transcript": "NM_001195304.2",
"protein_id": "NP_001182233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195304.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "n.*192G>A",
"hgvs_p": null,
"transcript": "ENST00000398289.2",
"protein_id": "ENSP00000435795.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000398289.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "n.4540G>A",
"hgvs_p": null,
"transcript": "ENST00000605265.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000605265.1"
},
{
"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": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "n.*322G>A",
"hgvs_p": null,
"transcript": "ENST00000651766.1",
"protein_id": "ENSP00000498921.1",
"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": "ENST00000651766.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "n.*192G>A",
"hgvs_p": null,
"transcript": "ENST00000398289.2",
"protein_id": "ENSP00000435795.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000398289.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"hgvs_c": "n.*322G>A",
"hgvs_p": null,
"transcript": "ENST00000651766.1",
"protein_id": "ENSP00000498921.1",
"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": "ENST00000651766.1"
}
],
"gene_symbol": "BBIP1",
"gene_hgnc_id": 28093,
"dbsnp": "rs532149239",
"frequency_reference_population": 0.00008857846,
"hom_count_reference_population": 0,
"allele_count_reference_population": 136,
"gnomad_exomes_af": 0.0000853136,
"gnomad_genomes_af": 0.000118242,
"gnomad_exomes_ac": 118,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.022552073001861572,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.0728,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.805,
"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": -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_001195305.3",
"gene_symbol": "BBIP1",
"hgnc_id": 28093,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His"
}
],
"clinvar_disease": "BBIP1-related disorder,Bardet-Biedl syndrome 18,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Bardet-Biedl syndrome 18|BBIP1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}