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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: 6-12015643-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=12015643&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 12015643,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_002114.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "NM_002114.4",
"protein_id": "NP_002105.3",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 9053,
"mane_select": "ENST00000379388.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002114.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "ENST00000379388.7",
"protein_id": "ENSP00000368698.2",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 9053,
"mane_select": "NM_002114.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379388.7"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "ENST00000484210.1",
"protein_id": "ENSP00000419721.1",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 47,
"cds_start": 15,
"cds_end": null,
"cds_length": 144,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484210.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "ENST00000478545.2",
"protein_id": "ENSP00000418021.2",
"transcript_support_level": 4,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 8886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478545.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "ENST00000487103.6",
"protein_id": "ENSP00000417348.2",
"transcript_support_level": 2,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 8853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487103.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "ENST00000491710.6",
"protein_id": "ENSP00000419762.2",
"transcript_support_level": 3,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 8912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491710.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "ENST00000925922.1",
"protein_id": "ENSP00000595981.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 8902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925922.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "ENST00000627968.3",
"protein_id": "ENSP00000486543.2",
"transcript_support_level": 5,
"aa_start": 5,
"aa_end": null,
"aa_length": 2684,
"cds_start": 15,
"cds_end": null,
"cds_length": 8055,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 8924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627968.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "XM_011514552.3",
"protein_id": "XP_011512854.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 8855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514552.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "XM_011514553.2",
"protein_id": "XP_011512855.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 8933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514553.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "XM_047418697.1",
"protein_id": "XP_047274653.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 8913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418697.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "XM_047418698.1",
"protein_id": "XP_047274654.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 8852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418698.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "XM_047418699.1",
"protein_id": "XP_047274655.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 9474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418699.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "XM_047418700.1",
"protein_id": "XP_047274656.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2718,
"cds_start": 15,
"cds_end": null,
"cds_length": 8157,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 9095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418700.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "XM_047418702.1",
"protein_id": "XP_047274658.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2684,
"cds_start": 15,
"cds_end": null,
"cds_length": 8055,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 8753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418702.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "XM_047418703.1",
"protein_id": "XP_047274659.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2684,
"cds_start": 15,
"cds_end": null,
"cds_length": 8055,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 8951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418703.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys",
"transcript": "XM_047418706.1",
"protein_id": "XP_047274662.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2026,
"cds_start": 15,
"cds_end": null,
"cds_length": 6081,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418706.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.-679A>G",
"hgvs_p": null,
"transcript": "ENST00000714232.1",
"protein_id": "ENSP00000519513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2516,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 8942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.-130A>G",
"hgvs_p": null,
"transcript": "ENST00000442081.7",
"protein_id": "ENSP00000409078.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442081.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.-130A>G",
"hgvs_p": null,
"transcript": "XM_011514548.3",
"protein_id": "XP_011512850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 9266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514548.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.-130A>G",
"hgvs_p": null,
"transcript": "XM_047418701.1",
"protein_id": "XP_047274657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2693,
"cds_start": null,
"cds_end": null,
"cds_length": 8082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.-130A>G",
"hgvs_p": null,
"transcript": "XM_047418705.1",
"protein_id": "XP_047274661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2035,
"cds_start": null,
"cds_end": null,
"cds_length": 6108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "n.15A>G",
"hgvs_p": null,
"transcript": "ENST00000399469.3",
"protein_id": "ENSP00000382395.3",
"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,
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"cdna_length": 8035,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000399469.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "n.794A>G",
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"transcript": "XR_007059258.1",
"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": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "n.233A>G",
"hgvs_p": null,
"transcript": "XR_007059259.1",
"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": 6987,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059259.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "n.175A>G",
"hgvs_p": null,
"transcript": "XR_007059260.1",
"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": 6929,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059260.1"
}
],
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"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": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.195,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002114.4",
"gene_symbol": "HIVEP1",
"hgnc_id": 4920,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.15A>G",
"hgvs_p": "p.Lys5Lys"
}
],
"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
}