← 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: 12-113915012-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=113915012&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RBM19",
"hgnc_id": 29098,
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_016196.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.4099,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4491111636161804,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 960,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_016196.4",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261741.10",
"protein_coding": true,
"protein_id": "NP_057280.2",
"strand": false,
"transcript": "NM_016196.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 960,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000261741.10",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016196.4",
"protein_coding": true,
"protein_id": "ENSP00000261741.5",
"strand": false,
"transcript": "ENST00000261741.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 960,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": 2598,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000392561.7",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376344.3",
"strand": false,
"transcript": "ENST00000392561.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": 2624,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000970408.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640467.1",
"strand": false,
"transcript": "ENST00000970408.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 3042,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000970412.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640471.1",
"strand": false,
"transcript": "ENST00000970412.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 997,
"aa_ref": "I",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 2730,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2626,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000926825.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2626A>C",
"hgvs_p": "p.Ile876Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596884.1",
"strand": false,
"transcript": "ENST00000926825.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 994,
"aa_ref": "I",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4542,
"cdna_start": 2540,
"cds_end": null,
"cds_length": 2985,
"cds_start": 2443,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000970404.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2443A>C",
"hgvs_p": "p.Ile815Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640463.1",
"strand": false,
"transcript": "ENST00000970404.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 990,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3606,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2973,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000970413.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640472.1",
"strand": false,
"transcript": "ENST00000970413.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 988,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4548,
"cdna_start": 2632,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000970403.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640462.1",
"strand": false,
"transcript": "ENST00000970403.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 988,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 2626,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000970406.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640464.1",
"strand": false,
"transcript": "ENST00000970406.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 986,
"aa_ref": "I",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2509,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000970415.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2509A>C",
"hgvs_p": "p.Ile837Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640474.1",
"strand": false,
"transcript": "ENST00000970415.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 960,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001146698.2",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001140170.1",
"strand": false,
"transcript": "NM_001146698.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 960,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001146699.2",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001140171.1",
"strand": false,
"transcript": "NM_001146699.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 960,
"aa_ref": "I",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000545145.6",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2515A>C",
"hgvs_p": "p.Ile839Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442053.2",
"strand": false,
"transcript": "ENST00000545145.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 959,
"aa_ref": "I",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4152,
"cdna_start": 2615,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000970407.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2512A>C",
"hgvs_p": "p.Ile838Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640466.1",
"strand": false,
"transcript": "ENST00000970407.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 959,
"aa_ref": "I",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4144,
"cdna_start": 2609,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000970410.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2512A>C",
"hgvs_p": "p.Ile838Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640469.1",
"strand": false,
"transcript": "ENST00000970410.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 958,
"aa_ref": "I",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 2607,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2509,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000970414.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2509A>C",
"hgvs_p": "p.Ile837Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640473.1",
"strand": false,
"transcript": "ENST00000970414.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 957,
"aa_ref": "I",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4147,
"cdna_start": 2615,
"cds_end": null,
"cds_length": 2874,
"cds_start": 2506,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000926824.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2506A>C",
"hgvs_p": "p.Ile836Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596883.1",
"strand": false,
"transcript": "ENST00000926824.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 936,
"aa_ref": "I",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": 2552,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2443,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000895029.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2443A>C",
"hgvs_p": "p.Ile815Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565088.1",
"strand": false,
"transcript": "ENST00000895029.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 936,
"aa_ref": "I",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4098,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2443,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000895030.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2443A>C",
"hgvs_p": "p.Ile815Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565089.1",
"strand": false,
"transcript": "ENST00000895030.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 936,
"aa_ref": "I",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2443,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017020281.2",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2443A>C",
"hgvs_p": "p.Ile815Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875770.1",
"strand": false,
"transcript": "XM_017020281.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 936,
"aa_ref": "I",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4076,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2443,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047429936.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2443A>C",
"hgvs_p": "p.Ile815Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285892.1",
"strand": false,
"transcript": "XM_047429936.1",
"transcript_support_level": null
},
{
"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": 692,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000552386.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "n.649A>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": "ENST00000552386.1",
"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": 3630,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XR_001748932.2",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "n.2541A>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": "XR_001748932.2",
"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": 3702,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XR_944848.3",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "n.2613A>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": "XR_944848.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1165723851",
"effect": "missense_variant",
"frequency_reference_population": 0.000006815036,
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"gnomad_exomes_ac": 9,
"gnomad_exomes_af": 0.00000615647,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131404,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.234,
"pos": 113915012,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.169,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_016196.4"
}
]
}