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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: 17-7575226-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7575226&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7575226,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001416.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "NM_001416.4",
"protein_id": "NP_001407.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 406,
"cds_start": 313,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293831.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000293831.13",
"protein_id": "ENSP00000293831.8",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 406,
"cds_start": 313,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001416.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293831.13"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000577269.5",
"protein_id": "ENSP00000463486.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 347,
"cds_start": 313,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577269.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP3-EIF4A1",
"gene_hgnc_id": 49182,
"hgvs_c": "n.*759G>A",
"hgvs_p": null,
"transcript": "ENST00000614237.1",
"protein_id": "ENSP00000483614.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000614237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP3-EIF4A1",
"gene_hgnc_id": 49182,
"hgvs_c": "n.*759G>A",
"hgvs_p": null,
"transcript": "ENST00000614237.1",
"protein_id": "ENSP00000483614.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000614237.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Val121Ile",
"transcript": "ENST00000879166.1",
"protein_id": "ENSP00000549225.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 422,
"cds_start": 361,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879166.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000934298.1",
"protein_id": "ENSP00000604357.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 405,
"cds_start": 313,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934298.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000934300.1",
"protein_id": "ENSP00000604359.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 403,
"cds_start": 313,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934300.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000934301.1",
"protein_id": "ENSP00000604360.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 403,
"cds_start": 313,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934301.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000934299.1",
"protein_id": "ENSP00000604358.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 402,
"cds_start": 313,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934299.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Val98Ile",
"transcript": "ENST00000879167.1",
"protein_id": "ENSP00000549226.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 399,
"cds_start": 292,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879167.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000879169.1",
"protein_id": "ENSP00000549228.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 391,
"cds_start": 313,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879169.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000879168.1",
"protein_id": "ENSP00000549227.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 388,
"cds_start": 313,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879168.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000934304.1",
"protein_id": "ENSP00000604363.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 377,
"cds_start": 313,
"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": "ENST00000934304.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000934303.1",
"protein_id": "ENSP00000604362.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 376,
"cds_start": 313,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934303.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "NM_001204510.2",
"protein_id": "NP_001191439.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 347,
"cds_start": 313,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204510.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000582746.5",
"protein_id": "ENSP00000462753.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 341,
"cds_start": 313,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582746.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000934302.1",
"protein_id": "ENSP00000604361.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 313,
"cds_start": 313,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934302.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000578495.5",
"protein_id": "ENSP00000464550.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 299,
"cds_start": 313,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578495.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile",
"transcript": "ENST00000584784.5",
"protein_id": "ENSP00000463366.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 270,
"cds_start": 313,
"cds_end": null,
"cds_length": 814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584784.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Val103Ile",
"transcript": "ENST00000585024.5",
"protein_id": "ENSP00000462275.1",
"transcript_support_level": 4,
"aa_start": 103,
"aa_end": null,
"aa_length": 186,
"cds_start": 307,
"cds_end": null,
"cds_length": 563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585024.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "ENST00000581384.5",
"protein_id": "ENSP00000464066.2",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 186,
"cds_start": 265,
"cds_end": null,
"cds_length": 562,
"cdna_start": null,
"cdna_end": null,
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"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "c.*10G>A",
"hgvs_p": null,
"transcript": "ENST00000577929.1",
"protein_id": "ENSP00000462372.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577929.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "n.*149G>A",
"hgvs_p": null,
"transcript": "ENST00000579085.5",
"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": "retained_intron",
"feature": "ENST00000579085.5"
},
{
"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": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "n.*61G>A",
"hgvs_p": null,
"transcript": "ENST00000581770.5",
"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": "retained_intron",
"feature": "ENST00000581770.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"hgvs_c": "n.*55G>A",
"hgvs_p": null,
"transcript": "ENST00000584054.5",
"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": "retained_intron",
"feature": "ENST00000584054.5"
}
],
"gene_symbol": "EIF4A1",
"gene_hgnc_id": 3282,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27425792813301086,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.1296,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"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_001416.4",
"gene_symbol": "EIF4A1",
"hgnc_id": 3282,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Val105Ile"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000614237.1",
"gene_symbol": "SENP3-EIF4A1",
"hgnc_id": 49182,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*759G>A",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000581621.1",
"gene_symbol": "ENSG00000264772",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.329G>A",
"hgvs_p": null
}
],
"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
}