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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: 6-31954557-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31954557&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31954557,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002904.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "NM_002904.6",
"protein_id": "NP_002895.3",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 380,
"cds_start": 740,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375429.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002904.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000375429.8",
"protein_id": "ENSP00000364578.3",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 380,
"cds_start": 740,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002904.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375429.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254His",
"transcript": "ENST00000375425.9",
"protein_id": "ENSP00000364574.5",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 387,
"cds_start": 761,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375425.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253His",
"transcript": "ENST00000948308.1",
"protein_id": "ENSP00000618367.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 386,
"cds_start": 758,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948308.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252His",
"transcript": "ENST00000882598.1",
"protein_id": "ENSP00000552657.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 385,
"cds_start": 755,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882598.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000882599.1",
"protein_id": "ENSP00000552658.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 380,
"cds_start": 740,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882599.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245His",
"transcript": "ENST00000882601.1",
"protein_id": "ENSP00000552660.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 378,
"cds_start": 734,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882601.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244His",
"transcript": "ENST00000937367.1",
"protein_id": "ENSP00000607426.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 377,
"cds_start": 731,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937367.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000882600.1",
"protein_id": "ENSP00000552659.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 375,
"cds_start": 725,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882600.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000882602.1",
"protein_id": "ENSP00000552661.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 375,
"cds_start": 725,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882602.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000948309.1",
"protein_id": "ENSP00000618368.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 375,
"cds_start": 725,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948309.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237His",
"transcript": "ENST00000882603.1",
"protein_id": "ENSP00000552662.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 370,
"cds_start": 710,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882603.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000444811.6",
"protein_id": "ENSP00000388400.2",
"transcript_support_level": 2,
"aa_start": 217,
"aa_end": null,
"aa_length": 350,
"cds_start": 650,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444811.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000441998.5",
"protein_id": "ENSP00000397914.1",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 332,
"cds_start": 725,
"cds_end": null,
"cds_length": 1001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441998.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "ENST00000454913.5",
"protein_id": "ENSP00000409389.1",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 740,
"cds_end": null,
"cds_length": 881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454913.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000436289.6",
"protein_id": "ENSP00000414029.2",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 259,
"cds_start": 725,
"cds_end": null,
"cds_length": 781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436289.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "XM_047419354.1",
"protein_id": "XP_047275310.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 380,
"cds_start": 740,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419354.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His",
"transcript": "XM_047419355.1",
"protein_id": "XP_047275311.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 380,
"cds_start": 740,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419355.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_006715205.4",
"protein_id": "XP_006715268.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 375,
"cds_start": 725,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715205.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047419356.1",
"protein_id": "XP_047275312.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 375,
"cds_start": 725,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419356.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "XM_011514913.4",
"protein_id": "XP_011513215.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 325,
"cds_start": 575,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514913.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
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"transcript": "ENST00000937368.1",
"protein_id": "ENSP00000607427.1",
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"aa_length": 291,
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"cds_length": 876,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937368.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "NELFE",
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"hgvs_c": "n.819G>A",
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"transcript": "ENST00000481121.5",
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"transcript_support_level": 2,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481121.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "NELFE",
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"hgvs_c": "n.1379G>A",
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"transcript": "ENST00000488426.5",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488426.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "NELFE",
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"hgvs_c": "n.1061G>A",
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"transcript": "ENST00000492185.5",
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"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492185.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"hgvs_c": "n.*540G>A",
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"transcript": "ENST00000492539.5",
"protein_id": "ENSP00000419183.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000492539.5"
}
],
"gene_symbol": "NELFE",
"gene_hgnc_id": 13974,
"dbsnp": "rs373302915",
"frequency_reference_population": 0.000097834796,
"hom_count_reference_population": 0,
"allele_count_reference_population": 157,
"gnomad_exomes_af": 0.0000963866,
"gnomad_genomes_af": 0.00011165,
"gnomad_exomes_ac": 140,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06949043273925781,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7979999780654907,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.5378,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.901,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.943035262460431,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_002904.6",
"gene_symbol": "NELFE",
"hgnc_id": 13974,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.740G>A",
"hgvs_p": "p.Arg247His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}