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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: 3-50288900-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50288900&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IFRD2",
"hgnc_id": 5457,
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Ser308Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006764.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0736,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07224062085151672,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 442,
"aa_ref": "S",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1329,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006764.5",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Ser308Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000417626.8",
"protein_coding": true,
"protein_id": "NP_006755.5",
"strand": false,
"transcript": "NM_006764.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 442,
"aa_ref": "S",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1329,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000417626.8",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Ser308Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006764.5",
"protein_coding": true,
"protein_id": "ENSP00000402849.4",
"strand": false,
"transcript": "ENST00000417626.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 449,
"aa_ref": "S",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1350,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000921977.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.944G>C",
"hgvs_p": "p.Ser315Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592036.1",
"strand": false,
"transcript": "ENST00000921977.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "S",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1341,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879012.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Ser312Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549071.1",
"strand": false,
"transcript": "ENST00000879012.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 442,
"aa_ref": "S",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1329,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000436390.5",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Ser308Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392316.1",
"strand": false,
"transcript": "ENST00000436390.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 441,
"aa_ref": "S",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1326,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879013.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.920G>C",
"hgvs_p": "p.Ser307Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549072.1",
"strand": false,
"transcript": "ENST00000879013.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 433,
"aa_ref": "S",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1302,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879009.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.896G>C",
"hgvs_p": "p.Ser299Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549068.1",
"strand": false,
"transcript": "ENST00000879009.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 429,
"aa_ref": "S",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1290,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879011.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.884G>C",
"hgvs_p": "p.Ser295Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549070.1",
"strand": false,
"transcript": "ENST00000879011.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 425,
"aa_ref": "S",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1278,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948688.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.872G>C",
"hgvs_p": "p.Ser291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618747.1",
"strand": false,
"transcript": "ENST00000948688.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1233,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948686.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Ser308Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618745.1",
"strand": false,
"transcript": "ENST00000948686.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 401,
"aa_ref": "S",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1206,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879010.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.800G>C",
"hgvs_p": "p.Ser267Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549069.1",
"strand": false,
"transcript": "ENST00000879010.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 380,
"aa_ref": "S",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1143,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879014.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.737G>C",
"hgvs_p": "p.Ser246Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549073.1",
"strand": false,
"transcript": "ENST00000879014.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1718,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1119,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948689.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.713G>C",
"hgvs_p": "p.Ser238Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618748.1",
"strand": false,
"transcript": "ENST00000948689.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 346,
"aa_ref": "S",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 788,
"cds_end": null,
"cds_length": 1041,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879008.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.635G>C",
"hgvs_p": "p.Ser212Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549067.1",
"strand": false,
"transcript": "ENST00000879008.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 337,
"aa_ref": "S",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1014,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948690.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.608G>C",
"hgvs_p": "p.Ser203Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618749.1",
"strand": false,
"transcript": "ENST00000948690.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 270,
"aa_ref": "S",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 557,
"cds_end": null,
"cds_length": 813,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948687.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "c.407G>C",
"hgvs_p": "p.Ser136Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618746.1",
"strand": false,
"transcript": "ENST00000948687.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1137,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000414734.5",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "n.*696G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000413726.1",
"strand": false,
"transcript": "ENST00000414734.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 917,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000438296.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "n.*100G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000415448.1",
"strand": false,
"transcript": "ENST00000438296.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 902,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000464258.5",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "n.299G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000464258.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000469855.1",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "n.364G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000469855.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000474556.5",
"gene_hgnc_id": 5457,
"gene_symbol": "IFRD2",
"hgvs_c": "n.1156G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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]
}