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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: 15-82130472-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82130472&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 82130472,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_024580.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3264G>T",
"hgvs_p": "p.Arg1088Arg",
"transcript": "NM_024580.6",
"protein_id": "NP_078856.4",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268206.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024580.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3264G>T",
"hgvs_p": "p.Arg1088Arg",
"transcript": "ENST00000268206.12",
"protein_id": "ENSP00000268206.7",
"transcript_support_level": 1,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024580.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268206.12"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3111G>T",
"hgvs_p": "p.Arg1037Arg",
"transcript": "ENST00000359445.8",
"protein_id": "ENSP00000352418.3",
"transcript_support_level": 1,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3111,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359445.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3360G>T",
"hgvs_p": "p.Arg1120Arg",
"transcript": "ENST00000956176.1",
"protein_id": "ENSP00000626235.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3360,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956176.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3264G>T",
"hgvs_p": "p.Arg1088Arg",
"transcript": "NM_001322845.2",
"protein_id": "NP_001309774.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322845.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3264G>T",
"hgvs_p": "p.Arg1088Arg",
"transcript": "ENST00000696330.1",
"protein_id": "ENSP00000512564.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696330.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3264G>T",
"hgvs_p": "p.Arg1088Arg",
"transcript": "ENST00000882433.1",
"protein_id": "ENSP00000552492.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882433.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3264G>T",
"hgvs_p": "p.Arg1088Arg",
"transcript": "ENST00000882434.1",
"protein_id": "ENSP00000552493.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882434.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3264G>T",
"hgvs_p": "p.Arg1088Arg",
"transcript": "ENST00000912651.1",
"protein_id": "ENSP00000582710.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912651.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3126G>T",
"hgvs_p": "p.Arg1042Arg",
"transcript": "ENST00000557939.2",
"protein_id": "ENSP00000452825.2",
"transcript_support_level": 5,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1074,
"cds_start": 3126,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557939.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.3111G>T",
"hgvs_p": "p.Arg1037Arg",
"transcript": "NM_001040610.3",
"protein_id": "NP_001035700.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3111,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040610.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.2475G>T",
"hgvs_p": "p.Arg825Arg",
"transcript": "NM_001322844.2",
"protein_id": "NP_001309773.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 857,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322844.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.2157G>T",
"hgvs_p": "p.Arg719Arg",
"transcript": "ENST00000912650.1",
"protein_id": "ENSP00000582709.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 751,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912650.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.2004G>T",
"hgvs_p": "p.Arg668Arg",
"transcript": "ENST00000956175.1",
"protein_id": "ENSP00000626234.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 700,
"cds_start": 2004,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956175.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.1527G>T",
"hgvs_p": "p.Arg509Arg",
"transcript": "ENST00000696327.1",
"protein_id": "ENSP00000512563.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 541,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696327.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.1377G>T",
"hgvs_p": "p.Arg459Arg",
"transcript": "ENST00000561340.2",
"protein_id": "ENSP00000512528.1",
"transcript_support_level": 3,
"aa_start": 459,
"aa_end": null,
"aa_length": 491,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561340.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "c.1656G>T",
"hgvs_p": "p.Arg552Arg",
"transcript": "XM_024450048.2",
"protein_id": "XP_024305816.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 584,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450048.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.2645G>T",
"hgvs_p": null,
"transcript": "ENST00000561331.2",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000561331.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.*3002G>T",
"hgvs_p": null,
"transcript": "ENST00000561389.2",
"protein_id": "ENSP00000452687.1",
"transcript_support_level": 4,
"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": "ENST00000561389.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.*2170G>T",
"hgvs_p": null,
"transcript": "ENST00000650113.1",
"protein_id": "ENSP00000497919.1",
"transcript_support_level": null,
"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": "ENST00000650113.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.2848G>T",
"hgvs_p": null,
"transcript": "ENST00000696329.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000696329.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.*218G>T",
"hgvs_p": null,
"transcript": "ENST00000696336.1",
"protein_id": "ENSP00000512568.1",
"transcript_support_level": null,
"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": "ENST00000696336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.3077G>T",
"hgvs_p": null,
"transcript": "ENST00000696337.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000696337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.3418G>T",
"hgvs_p": null,
"transcript": "NR_136410.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_136410.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.*3002G>T",
"hgvs_p": null,
"transcript": "ENST00000561389.2",
"protein_id": "ENSP00000452687.1",
"transcript_support_level": 4,
"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": "ENST00000561389.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.*2170G>T",
"hgvs_p": null,
"transcript": "ENST00000650113.1",
"protein_id": "ENSP00000497919.1",
"transcript_support_level": null,
"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": "ENST00000650113.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"hgvs_c": "n.*218G>T",
"hgvs_p": null,
"transcript": "ENST00000696336.1",
"protein_id": "ENSP00000512568.1",
"transcript_support_level": null,
"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": "ENST00000696336.1"
}
],
"gene_symbol": "EFL1",
"gene_hgnc_id": 25789,
"dbsnp": "rs1431937891",
"frequency_reference_population": 6.840497e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8405e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.117,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_024580.6",
"gene_symbol": "EFL1",
"hgnc_id": 25789,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3264G>T",
"hgvs_p": "p.Arg1088Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}