← 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: 6-31954572-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31954572&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NELFE",
"hgnc_id": 13974,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_002904.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 30,
"alphamissense_prediction": null,
"alphamissense_score": 0.2908,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "6",
"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": 0.3492048978805542,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1143,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002904.6",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375429.8",
"protein_coding": true,
"protein_id": "NP_002895.3",
"strand": false,
"transcript": "NM_002904.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1143,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000375429.8",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002904.6",
"protein_coding": true,
"protein_id": "ENSP00000364578.3",
"strand": false,
"transcript": "ENST00000375429.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 387,
"aa_ref": "R",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1164,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000375425.9",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.746G>A",
"hgvs_p": "p.Arg249Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364574.5",
"strand": false,
"transcript": "ENST00000375425.9",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 386,
"aa_ref": "R",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1161,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948308.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618367.1",
"strand": false,
"transcript": "ENST00000948308.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 385,
"aa_ref": "R",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 833,
"cds_end": null,
"cds_length": 1158,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882598.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552657.1",
"strand": false,
"transcript": "ENST00000882598.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1143,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882599.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552658.1",
"strand": false,
"transcript": "ENST00000882599.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 378,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1137,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882601.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552660.1",
"strand": false,
"transcript": "ENST00000882601.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1438,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1134,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000937367.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607426.1",
"strand": false,
"transcript": "ENST00000937367.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1297,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1128,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882600.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552659.1",
"strand": false,
"transcript": "ENST00000882600.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1128,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882602.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552661.1",
"strand": false,
"transcript": "ENST00000882602.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1128,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948309.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618368.1",
"strand": false,
"transcript": "ENST00000948309.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 370,
"aa_ref": "R",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1113,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882603.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552662.1",
"strand": false,
"transcript": "ENST00000882603.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 350,
"aa_ref": "R",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1053,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000444811.6",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388400.2",
"strand": false,
"transcript": "ENST00000444811.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 332,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1075,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1001,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000441998.5",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397914.1",
"strand": false,
"transcript": "ENST00000441998.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 292,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": 758,
"cds_end": null,
"cds_length": 881,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000454913.5",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409389.1",
"strand": false,
"transcript": "ENST00000454913.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 259,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 906,
"cdna_start": 835,
"cds_end": null,
"cds_length": 781,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000436289.6",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414029.2",
"strand": false,
"transcript": "ENST00000436289.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1143,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419354.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275310.1",
"strand": false,
"transcript": "XM_047419354.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 380,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1143,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419355.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275311.1",
"strand": false,
"transcript": "XM_047419355.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 798,
"cds_end": null,
"cds_length": 1128,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006715205.4",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715268.1",
"strand": false,
"transcript": "XM_006715205.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1128,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419356.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275312.1",
"strand": false,
"transcript": "XM_047419356.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 325,
"aa_ref": "R",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 787,
"cds_end": null,
"cds_length": 978,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011514913.4",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Arg187Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513215.1",
"strand": false,
"transcript": "XM_011514913.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 291,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1169,
"cdna_start": null,
"cds_end": null,
"cds_length": 876,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937368.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.476-130G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607427.1",
"strand": false,
"transcript": "ENST00000937368.1",
"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": 1543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000481121.5",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "n.804G>A",
"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": "ENST00000481121.5",
"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": 1855,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000488426.5",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "n.1364G>A",
"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": "ENST00000488426.5",
"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": 1786,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000492185.5",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "n.1046G>A",
"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": "ENST00000492185.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 158,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 765,
"cdna_start": null,
"cds_end": null,
"cds_length": 477,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426722.5",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.*248G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394340.1",
"strand": true,
"transcript": "ENST00000426722.5",
"transcript_support_level": 5
},
{
"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": 583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492539.5",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "n.*525G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419183.1",
"strand": true,
"transcript": "ENST00000492539.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs760660272",
"effect": "missense_variant",
"frequency_reference_population": 0.000018848792,
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"gnomad_exomes_ac": 26,
"gnomad_exomes_af": 0.0000179718,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000276049,
"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": "Benign",
"phylop100way_score": 3.54,
"pos": 31954572,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.247,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_002904.6"
}
]
}