← Back to variant description
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: 14-31787858-AAT-TCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=31787858&ref=AAT&alt=TCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NUBPL",
"hgnc_id": 20278,
"hgvs_c": "c.592_594delAATinsTCA",
"hgvs_p": "p.Asn198Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_025152.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 319,
"aa_ref": "N",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 628,
"cds_end": null,
"cds_length": 960,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_025152.3",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.592_594delAATinsTCA",
"hgvs_p": "p.Asn198Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000281081.12",
"protein_coding": true,
"protein_id": "NP_079428.2",
"strand": true,
"transcript": "NM_025152.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 319,
"aa_ref": "N",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 628,
"cds_end": null,
"cds_length": 960,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000281081.12",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.592_594delAATinsTCA",
"hgvs_p": "p.Asn198Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025152.3",
"protein_coding": true,
"protein_id": "ENSP00000281081.7",
"strand": true,
"transcript": "ENST00000281081.12",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 359,
"aa_ref": "N",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1080,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858673.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.592_594delAATinsTCA",
"hgvs_p": "p.Asn198Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528732.1",
"strand": true,
"transcript": "ENST00000858673.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 317,
"aa_ref": "N",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 604,
"cds_end": null,
"cds_length": 954,
"cds_start": 586,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858677.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.586_588delAATinsTCA",
"hgvs_p": "p.Asn196Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528736.1",
"strand": true,
"transcript": "ENST00000858677.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 314,
"aa_ref": "N",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 602,
"cds_end": null,
"cds_length": 945,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858674.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.577_579delAATinsTCA",
"hgvs_p": "p.Asn193Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528733.1",
"strand": true,
"transcript": "ENST00000858674.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 314,
"aa_ref": "N",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 580,
"cds_end": null,
"cds_length": 945,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955294.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.577_579delAATinsTCA",
"hgvs_p": "p.Asn193Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625353.1",
"strand": true,
"transcript": "ENST00000955294.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 294,
"aa_ref": "N",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 548,
"cds_end": null,
"cds_length": 885,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955293.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.517_519delAATinsTCA",
"hgvs_p": "p.Asn173Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625352.1",
"strand": true,
"transcript": "ENST00000955293.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 274,
"aa_ref": "N",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": 482,
"cds_end": null,
"cds_length": 825,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858676.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.457_459delAATinsTCA",
"hgvs_p": "p.Asn153Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528735.1",
"strand": true,
"transcript": "ENST00000858676.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 251,
"aa_ref": "N",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 628,
"cds_end": null,
"cds_length": 756,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937194.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.592_594delAATinsTCA",
"hgvs_p": "p.Asn198Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607253.1",
"strand": true,
"transcript": "ENST00000937194.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 223,
"aa_ref": "N",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 411,
"cds_end": null,
"cds_length": 672,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001201573.2",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.304_306delAATinsTCA",
"hgvs_p": "p.Asn102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188502.1",
"strand": true,
"transcript": "NM_001201573.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 136,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 314,
"cds_end": null,
"cds_length": 411,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001201574.2",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.43_45delAATinsTCA",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188503.1",
"strand": true,
"transcript": "NM_001201574.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 214,
"aa_ref": "N",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 371,
"cds_end": null,
"cds_length": 645,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537181.3",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.277_279delAATinsTCA",
"hgvs_p": "p.Asn93Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535483.1",
"strand": true,
"transcript": "XM_011537181.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 189,
"aa_ref": "N",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 324,
"cds_end": null,
"cds_length": 570,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431786.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.202_204delAATinsTCA",
"hgvs_p": "p.Asn68Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287742.1",
"strand": true,
"transcript": "XM_047431786.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 178,
"aa_ref": "N",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 290,
"cds_end": null,
"cds_length": 537,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431787.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.169_171delAATinsTCA",
"hgvs_p": "p.Asn57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287743.1",
"strand": true,
"transcript": "XM_047431787.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 136,
"aa_ref": "N",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6433,
"cdna_start": 4021,
"cds_end": null,
"cds_length": 411,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537184.4",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.43_45delAATinsTCA",
"hgvs_p": "p.Asn15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535486.1",
"strand": true,
"transcript": "XM_011537184.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": null,
"cds_end": null,
"cds_length": 897,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858672.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.545-38771_545-38769delAATinsTCA",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528731.1",
"strand": true,
"transcript": "ENST00000858672.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 259,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1930,
"cdna_start": null,
"cds_end": null,
"cds_length": 780,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858675.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.514-58613_514-58611delAATinsTCA",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528734.1",
"strand": true,
"transcript": "ENST00000858675.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 166,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 557,
"cdna_start": null,
"cds_end": null,
"cds_length": 502,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000550649.5",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.292-58613_292-58611delAATinsTCA",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447618.1",
"strand": true,
"transcript": "ENST00000550649.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 173,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 725,
"cdna_start": null,
"cds_end": null,
"cds_length": 522,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431788.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.514-38771_514-38769delAATinsTCA",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287744.1",
"strand": true,
"transcript": "XM_047431788.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000418681.6",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "n.314_316delAATinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000418681.6",
"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": 2001,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000547839.5",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "n.514-38771_514-38769delAATinsTCA",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449918.1",
"strand": true,
"transcript": "ENST00000547839.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_120408.2",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "n.550-38771_550-38769delAATinsTCA",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_120408.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 132,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 567,
"cdna_start": null,
"cds_end": null,
"cds_length": 400,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000551314.1",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "c.*36_*38delAATinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447234.1",
"strand": true,
"transcript": "ENST00000551314.1",
"transcript_support_level": 4
},
{
"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": 556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000549838.5",
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"hgvs_c": "n.*228_*230delAATinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447658.1",
"strand": true,
"transcript": "ENST00000549838.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 20278,
"gene_symbol": "NUBPL",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.972,
"pos": 31787858,
"ref": "AAT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_025152.3"
}
]
}