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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: 1-43364108-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43364108&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43364108,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_022821.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "NM_022821.4",
"protein_id": "NP_073732.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372458.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022821.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000372458.8",
"protein_id": "ENSP00000361536.3",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022821.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372458.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "n.682C>A",
"hgvs_p": null,
"transcript": "ENST00000464204.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000464204.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "NM_001256399.2",
"protein_id": "NP_001243328.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256399.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000621943.4",
"protein_id": "ENSP00000477602.1",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621943.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855975.1",
"protein_id": "ENSP00000526034.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855975.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855976.1",
"protein_id": "ENSP00000526035.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855976.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855977.1",
"protein_id": "ENSP00000526036.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855977.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855979.1",
"protein_id": "ENSP00000526038.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855979.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855980.1",
"protein_id": "ENSP00000526039.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855980.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"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": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855981.1",
"protein_id": "ENSP00000526040.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855981.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855982.1",
"protein_id": "ENSP00000526041.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855982.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855983.1",
"protein_id": "ENSP00000526042.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855983.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855984.1",
"protein_id": "ENSP00000526043.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855984.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855986.1",
"protein_id": "ENSP00000526045.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855986.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855987.1",
"protein_id": "ENSP00000526046.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855987.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855988.1",
"protein_id": "ENSP00000526047.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855988.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855989.1",
"protein_id": "ENSP00000526048.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855989.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855990.1",
"protein_id": "ENSP00000526049.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855990.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855991.1",
"protein_id": "ENSP00000526050.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855991.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000855992.1",
"protein_id": "ENSP00000526051.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855992.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile",
"transcript": "ENST00000912515.1",
"protein_id": "ENSP00000582574.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 279,
"cds_start": 648,
"cds_end": null,
"cds_length": 840,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487209.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "n.915C>A",
"hgvs_p": null,
"transcript": "ENST00000497050.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000497050.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "n.716C>A",
"hgvs_p": null,
"transcript": "ENST00000497569.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000497569.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "n.686C>A",
"hgvs_p": null,
"transcript": "NR_046117.2",
"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_046117.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"hgvs_c": "n.*239C>A",
"hgvs_p": null,
"transcript": "ENST00000478481.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000478481.5"
}
],
"gene_symbol": "ELOVL1",
"gene_hgnc_id": 14418,
"dbsnp": "rs775471577",
"frequency_reference_population": 0.000006815163,
"hom_count_reference_population": 1,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684053,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.396,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_022821.4",
"gene_symbol": "ELOVL1",
"hgnc_id": 14418,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.648C>A",
"hgvs_p": "p.Ile216Ile"
}
],
"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
}