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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: 11-6477809-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6477809&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 6477809,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001242854.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"transcript": "NM_001376558.2",
"protein_id": "NP_001363487.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 341,
"cds_start": 779,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396777.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376558.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"transcript": "ENST00000396777.8",
"protein_id": "ENSP00000379998.3",
"transcript_support_level": 2,
"aa_start": 260,
"aa_end": null,
"aa_length": 341,
"cds_start": 779,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376558.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396777.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"transcript": "ENST00000254584.6",
"protein_id": "ENSP00000254584.2",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 341,
"cds_start": 779,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254584.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Ser293Asn",
"transcript": "NM_001242854.3",
"protein_id": "NP_001229783.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 374,
"cds_start": 878,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242854.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Ser293Asn",
"transcript": "ENST00000614314.4",
"protein_id": "ENSP00000484121.1",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 374,
"cds_start": 878,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614314.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Ser293Asn",
"transcript": "ENST00000860045.1",
"protein_id": "ENSP00000530104.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 374,
"cds_start": 878,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860045.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"transcript": "ENST00000860048.1",
"protein_id": "ENSP00000530107.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 348,
"cds_start": 779,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860048.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Ser265Asn",
"transcript": "ENST00000931133.1",
"protein_id": "ENSP00000601192.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 346,
"cds_start": 794,
"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": "ENST00000931133.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"transcript": "NM_012402.5",
"protein_id": "NP_036534.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 341,
"cds_start": 779,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012402.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"transcript": "ENST00000860047.1",
"protein_id": "ENSP00000530106.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 341,
"cds_start": 779,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860047.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"transcript": "ENST00000860049.1",
"protein_id": "ENSP00000530108.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 341,
"cds_start": 779,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860049.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"transcript": "ENST00000860052.1",
"protein_id": "ENSP00000530111.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 341,
"cds_start": 779,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860052.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"transcript": "ENST00000860053.1",
"protein_id": "ENSP00000530112.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 341,
"cds_start": 779,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860053.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "NM_001370406.2",
"protein_id": "NP_001357335.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 340,
"cds_start": 776,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370406.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "NM_001376559.2",
"protein_id": "NP_001363488.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 340,
"cds_start": 776,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376559.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000860051.1",
"protein_id": "ENSP00000530110.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 340,
"cds_start": 776,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860051.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Ser259Asn",
"transcript": "ENST00000931131.1",
"protein_id": "ENSP00000601190.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 340,
"cds_start": 776,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931131.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.779G>A",
"hgvs_p": "p.Ser260Asn",
"transcript": "NM_001376560.2",
"protein_id": "NP_001363489.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 339,
"cds_start": 779,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376560.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Ser255Asn",
"transcript": "NM_001370409.2",
"protein_id": "NP_001357338.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 336,
"cds_start": 764,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370409.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Ser255Asn",
"transcript": "NM_001370411.2",
"protein_id": "NP_001357340.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 336,
"cds_start": 764,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370411.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Ser255Asn",
"transcript": "ENST00000860044.1",
"protein_id": "ENSP00000530103.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 336,
"cds_start": 764,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860044.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Ser255Asn",
"transcript": "ENST00000931132.1",
"protein_id": "ENSP00000601191.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 336,
"cds_start": 764,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164825.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "n.1107G>A",
"hgvs_p": null,
"transcript": "NR_164826.2",
"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_164826.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "n.*244G>A",
"hgvs_p": null,
"transcript": "ENST00000525235.2",
"protein_id": "ENSP00000434124.1",
"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": "ENST00000525235.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP2",
"gene_hgnc_id": 17160,
"hgvs_c": "n.*178G>A",
"hgvs_p": null,
"transcript": "ENST00000531037.5",
"protein_id": "ENSP00000434564.1",
"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": "ENST00000531037.5"
}
],
"gene_symbol": "ARFIP2",
"gene_hgnc_id": 17160,
"dbsnp": "rs758641222",
"frequency_reference_population": 0.000004956863,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478848,
"gnomad_genomes_af": 0.0000065754,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13033288717269897,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.0806,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.246,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001242854.3",
"gene_symbol": "ARFIP2",
"hgnc_id": 17160,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Ser293Asn"
}
],
"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
}