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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: 3-50288922-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50288922&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50288922,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006764.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Glu301Lys",
"transcript": "NM_006764.5",
"protein_id": "NP_006755.5",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 442,
"cds_start": 901,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000417626.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006764.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Glu301Lys",
"transcript": "ENST00000417626.8",
"protein_id": "ENSP00000402849.4",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 442,
"cds_start": 901,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006764.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417626.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Glu308Lys",
"transcript": "ENST00000921977.1",
"protein_id": "ENSP00000592036.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 449,
"cds_start": 922,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921977.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Glu305Lys",
"transcript": "ENST00000879012.1",
"protein_id": "ENSP00000549071.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 446,
"cds_start": 913,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879012.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Glu301Lys",
"transcript": "ENST00000436390.5",
"protein_id": "ENSP00000392316.1",
"transcript_support_level": 2,
"aa_start": 301,
"aa_end": null,
"aa_length": 442,
"cds_start": 901,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436390.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Glu300Lys",
"transcript": "ENST00000879013.1",
"protein_id": "ENSP00000549072.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 441,
"cds_start": 898,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879013.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Glu292Lys",
"transcript": "ENST00000879009.1",
"protein_id": "ENSP00000549068.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 433,
"cds_start": 874,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879009.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "ENST00000879011.1",
"protein_id": "ENSP00000549070.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 429,
"cds_start": 862,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879011.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Glu284Lys",
"transcript": "ENST00000948688.1",
"protein_id": "ENSP00000618747.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 425,
"cds_start": 850,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948688.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Glu301Lys",
"transcript": "ENST00000948686.1",
"protein_id": "ENSP00000618745.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 410,
"cds_start": 901,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948686.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Glu260Lys",
"transcript": "ENST00000879010.1",
"protein_id": "ENSP00000549069.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 401,
"cds_start": 778,
"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": "ENST00000879010.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Glu239Lys",
"transcript": "ENST00000879014.1",
"protein_id": "ENSP00000549073.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 380,
"cds_start": 715,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879014.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Glu231Lys",
"transcript": "ENST00000948689.1",
"protein_id": "ENSP00000618748.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 372,
"cds_start": 691,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948689.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Glu205Lys",
"transcript": "ENST00000879008.1",
"protein_id": "ENSP00000549067.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 346,
"cds_start": 613,
"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": "ENST00000879008.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Glu196Lys",
"transcript": "ENST00000948690.1",
"protein_id": "ENSP00000618749.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 337,
"cds_start": 586,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948690.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Glu129Lys",
"transcript": "ENST00000948687.1",
"protein_id": "ENSP00000618746.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 270,
"cds_start": 385,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948687.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.*674G>A",
"hgvs_p": null,
"transcript": "ENST00000414734.5",
"protein_id": "ENSP00000413726.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000414734.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.*78G>A",
"hgvs_p": null,
"transcript": "ENST00000438296.1",
"protein_id": "ENSP00000415448.1",
"transcript_support_level": 5,
"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": "ENST00000438296.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.277G>A",
"hgvs_p": null,
"transcript": "ENST00000464258.5",
"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": "ENST00000464258.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.342G>A",
"hgvs_p": null,
"transcript": "ENST00000469855.1",
"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": "ENST00000469855.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.1134G>A",
"hgvs_p": null,
"transcript": "ENST00000474556.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000474556.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.139G>A",
"hgvs_p": null,
"transcript": "ENST00000486322.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000486322.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.305G>A",
"hgvs_p": null,
"transcript": "ENST00000492387.1",
"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": "ENST00000492387.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.*674G>A",
"hgvs_p": null,
"transcript": "ENST00000414734.5",
"protein_id": "ENSP00000413726.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000414734.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.*78G>A",
"hgvs_p": null,
"transcript": "ENST00000438296.1",
"protein_id": "ENSP00000415448.1",
"transcript_support_level": 5,
"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": "ENST00000438296.1"
}
],
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"dbsnp": "rs200003252",
"frequency_reference_population": 0.000045894718,
"hom_count_reference_population": 0,
"allele_count_reference_population": 74,
"gnomad_exomes_af": 0.0000458864,
"gnomad_genomes_af": 0.0000459746,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39934420585632324,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.392,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0952,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.939,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006764.5",
"gene_symbol": "IFRD2",
"hgnc_id": 5457,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Glu301Lys"
}
],
"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
}