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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: 6-2835958-GTC-ATT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=2835958&ref=GTC&alt=ATT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPINB1",
"hgnc_id": 3311,
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_030666.4",
"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": "ATT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"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": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_030666.4",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380739.6",
"protein_coding": true,
"protein_id": "NP_109591.1",
"strand": false,
"transcript": "NM_030666.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380739.6",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030666.4",
"protein_coding": true,
"protein_id": "ENSP00000370115.5",
"strand": false,
"transcript": "ENST00000380739.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 1910,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878907.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548966.1",
"strand": false,
"transcript": "ENST00000878907.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878908.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548967.1",
"strand": false,
"transcript": "ENST00000878908.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878910.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548969.1",
"strand": false,
"transcript": "ENST00000878910.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878911.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548970.1",
"strand": false,
"transcript": "ENST00000878911.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878912.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548971.1",
"strand": false,
"transcript": "ENST00000878912.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878913.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548972.1",
"strand": false,
"transcript": "ENST00000878913.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878914.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548973.1",
"strand": false,
"transcript": "ENST00000878914.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 795,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915893.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585952.1",
"strand": false,
"transcript": "ENST00000915893.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952270.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622329.1",
"strand": false,
"transcript": "ENST00000952270.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 372,
"aa_ref": "D",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2564,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1119,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878906.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.610_612delGACinsAAT",
"hgvs_p": "p.Asp204Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548965.1",
"strand": false,
"transcript": "ENST00000878906.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 372,
"aa_ref": "D",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 827,
"cds_end": null,
"cds_length": 1119,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952269.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.610_612delGACinsAAT",
"hgvs_p": "p.Asp204Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622328.1",
"strand": false,
"transcript": "ENST00000952269.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 368,
"aa_ref": "D",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1273,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1107,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878915.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.598_600delGACinsAAT",
"hgvs_p": "p.Asp200Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548974.1",
"strand": false,
"transcript": "ENST00000878915.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 333,
"aa_ref": "D",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1002,
"cds_start": 493,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878909.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.493_495delGACinsAAT",
"hgvs_p": "p.Asp165Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548968.1",
"strand": false,
"transcript": "ENST00000878909.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011514333.2",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512635.1",
"strand": false,
"transcript": "XM_011514333.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 379,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2691,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011514334.3",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.631_633delGACinsAAT",
"hgvs_p": "p.Asp211Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512636.1",
"strand": false,
"transcript": "XM_011514334.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 330,
"aa_ref": "D",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 763,
"cds_end": null,
"cds_length": 993,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011514335.3",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.484_486delGACinsAAT",
"hgvs_p": "p.Asp162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512637.1",
"strand": false,
"transcript": "XM_011514335.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 330,
"aa_ref": "D",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 1023,
"cds_end": null,
"cds_length": 993,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418269.1",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "c.484_486delGACinsAAT",
"hgvs_p": "p.Asp162Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274225.1",
"strand": false,
"transcript": "XM_047418269.1",
"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": 782,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000490094.5",
"gene_hgnc_id": 3311,
"gene_symbol": "SERPINB1",
"hgvs_c": "n.678_680delGACinsAAT",
"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": "ENST00000490094.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_073111.2",
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