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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: 6-31954596-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31954596&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31954596,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002904.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.701G>A",
"hgvs_p": "p.Arg234Gln",
"transcript": "NM_002904.6",
"protein_id": "NP_002895.3",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 380,
"cds_start": 701,
"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": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.701G>A",
"hgvs_p": "p.Arg234Gln",
"transcript": "ENST00000375429.8",
"protein_id": "ENSP00000364578.3",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 380,
"cds_start": 701,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.722G>A",
"hgvs_p": "p.Arg241Gln",
"transcript": "ENST00000375425.9",
"protein_id": "ENSP00000364574.5",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 387,
"cds_start": 722,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.719G>A",
"hgvs_p": "p.Arg240Gln",
"transcript": "ENST00000948308.1",
"protein_id": "ENSP00000618367.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 386,
"cds_start": 719,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.716G>A",
"hgvs_p": "p.Arg239Gln",
"transcript": "ENST00000882598.1",
"protein_id": "ENSP00000552657.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 385,
"cds_start": 716,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.701G>A",
"hgvs_p": "p.Arg234Gln",
"transcript": "ENST00000882599.1",
"protein_id": "ENSP00000552658.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 380,
"cds_start": 701,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.695G>A",
"hgvs_p": "p.Arg232Gln",
"transcript": "ENST00000882601.1",
"protein_id": "ENSP00000552660.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 378,
"cds_start": 695,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "ENST00000937367.1",
"protein_id": "ENSP00000607426.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 377,
"cds_start": 692,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.686G>A",
"hgvs_p": "p.Arg229Gln",
"transcript": "ENST00000882600.1",
"protein_id": "ENSP00000552659.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 375,
"cds_start": 686,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.686G>A",
"hgvs_p": "p.Arg229Gln",
"transcript": "ENST00000882602.1",
"protein_id": "ENSP00000552661.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 375,
"cds_start": 686,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.686G>A",
"hgvs_p": "p.Arg229Gln",
"transcript": "ENST00000948309.1",
"protein_id": "ENSP00000618368.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 375,
"cds_start": 686,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.671G>A",
"hgvs_p": "p.Arg224Gln",
"transcript": "ENST00000882603.1",
"protein_id": "ENSP00000552662.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 370,
"cds_start": 671,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.611G>A",
"hgvs_p": "p.Arg204Gln",
"transcript": "ENST00000444811.6",
"protein_id": "ENSP00000388400.2",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 350,
"cds_start": 611,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.686G>A",
"hgvs_p": "p.Arg229Gln",
"transcript": "ENST00000441998.5",
"protein_id": "ENSP00000397914.1",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 332,
"cds_start": 686,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.701G>A",
"hgvs_p": "p.Arg234Gln",
"transcript": "ENST00000454913.5",
"protein_id": "ENSP00000409389.1",
"transcript_support_level": 5,
"aa_start": 234,
"aa_end": null,
"aa_length": 292,
"cds_start": 701,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.686G>A",
"hgvs_p": "p.Arg229Gln",
"transcript": "ENST00000436289.6",
"protein_id": "ENSP00000414029.2",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 259,
"cds_start": 686,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.701G>A",
"hgvs_p": "p.Arg234Gln",
"transcript": "XM_047419354.1",
"protein_id": "XP_047275310.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 380,
"cds_start": 701,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.701G>A",
"hgvs_p": "p.Arg234Gln",
"transcript": "XM_047419355.1",
"protein_id": "XP_047275311.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 380,
"cds_start": 701,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.686G>A",
"hgvs_p": "p.Arg229Gln",
"transcript": "XM_006715205.4",
"protein_id": "XP_006715268.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 375,
"cds_start": 686,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.686G>A",
"hgvs_p": "p.Arg229Gln",
"transcript": "XM_047419356.1",
"protein_id": "XP_047275312.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 375,
"cds_start": 686,
"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": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.536G>A",
"hgvs_p": "p.Arg179Gln",
"transcript": "XM_011514913.4",
"protein_id": "XP_011513215.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 325,
"cds_start": 536,
"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,
"hgvs_c": "c.476-154G>A",
"hgvs_p": null,
"transcript": "ENST00000937368.1",
"protein_id": "ENSP00000607427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937368.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
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"hgvs_c": "n.780G>A",
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"transcript": "ENST00000481121.5",
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"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481121.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"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.1340G>A",
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"transcript": "ENST00000488426.5",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488426.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFE",
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"hgvs_c": "n.1022G>A",
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"transcript": "ENST00000492185.5",
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"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000492185.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "c.*224G>A",
"hgvs_p": null,
"transcript": "ENST00000426722.5",
"protein_id": "ENSP00000394340.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426722.5"
},
{
"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.*501G>A",
"hgvs_p": null,
"transcript": "ENST00000492539.5",
"protein_id": "ENSP00000419183.1",
"transcript_support_level": 3,
"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": "rs780440637",
"frequency_reference_population": 0.00007598526,
"hom_count_reference_population": 0,
"allele_count_reference_population": 121,
"gnomad_exomes_af": 0.0000755757,
"gnomad_genomes_af": 0.000079919,
"gnomad_exomes_ac": 109,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3326863646507263,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.294,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.225,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.202,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002904.6",
"gene_symbol": "NELFE",
"hgnc_id": 13974,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Arg234Gln"
}
],
"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
}