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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: 19-18931539-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18931539&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18931539,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_004838.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "NM_004838.4",
"protein_id": "NP_004829.3",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392351.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004838.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000392351.8",
"protein_id": "ENSP00000376162.2",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004838.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392351.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000539827.5",
"protein_id": "ENSP00000439937.1",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539827.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000542541.6",
"protein_id": "ENSP00000446026.1",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542541.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Gln223Gln",
"transcript": "ENST00000594439.5",
"protein_id": "ENSP00000471835.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 325,
"cds_start": 669,
"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": "ENST00000594439.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268193",
"gene_hgnc_id": null,
"hgvs_c": "n.*50G>A",
"hgvs_p": null,
"transcript": "ENST00000596918.5",
"protein_id": "ENSP00000469669.1",
"transcript_support_level": 5,
"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": "ENST00000596918.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268193",
"gene_hgnc_id": null,
"hgvs_c": "n.*50G>A",
"hgvs_p": null,
"transcript": "ENST00000596918.5",
"protein_id": "ENSP00000469669.1",
"transcript_support_level": 5,
"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": "ENST00000596918.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "NM_001145722.2",
"protein_id": "NP_001139194.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145722.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000861160.1",
"protein_id": "ENSP00000531219.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861160.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000861162.1",
"protein_id": "ENSP00000531221.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861162.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000936392.1",
"protein_id": "ENSP00000606451.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936392.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000936393.1",
"protein_id": "ENSP00000606452.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936393.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000971945.1",
"protein_id": "ENSP00000642004.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971945.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000861161.1",
"protein_id": "ENSP00000531220.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 360,
"cds_start": 777,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861161.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "NM_001145721.1",
"protein_id": "NP_001139193.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 358,
"cds_start": 777,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145721.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000221222.15",
"protein_id": "ENSP00000221222.11",
"transcript_support_level": 5,
"aa_start": 259,
"aa_end": null,
"aa_length": 358,
"cds_start": 777,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221222.15"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000433218.6",
"protein_id": "ENSP00000396154.2",
"transcript_support_level": 5,
"aa_start": 259,
"aa_end": null,
"aa_length": 358,
"cds_start": 777,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433218.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.759G>A",
"hgvs_p": "p.Gln253Gln",
"transcript": "ENST00000971944.1",
"protein_id": "ENSP00000642003.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 355,
"cds_start": 759,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971944.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Gln240Gln",
"transcript": "ENST00000971943.1",
"protein_id": "ENSP00000642002.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 342,
"cds_start": 720,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971943.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Gln223Gln",
"transcript": "NM_001145724.1",
"protein_id": "NP_001139196.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 325,
"cds_start": 669,
"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": "NM_001145724.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.150G>A",
"hgvs_p": "p.Gln50Gln",
"transcript": "ENST00000594794.5",
"protein_id": "ENSP00000469800.1",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 152,
"cds_start": 150,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594794.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln",
"transcript": "XM_047439733.1",
"protein_id": "XP_047295689.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 361,
"cds_start": 777,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"feature": "XM_047439733.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ENSG00000268193",
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"hgvs_c": "n.*50G>A",
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"transcript": "ENST00000593484.1",
"protein_id": "ENSP00000471765.1",
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"aa_start": null,
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"aa_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000593484.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "HOMER3",
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"hgvs_c": "n.368G>A",
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"transcript": "ENST00000595756.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000595756.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 9,
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"gene_symbol": "HOMER3",
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"hgvs_c": "n.1430G>A",
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"transcript": "NR_027297.1",
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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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"biotype": "pseudogene",
"feature": "NR_027297.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "ENSG00000268193",
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"hgvs_c": "n.*50G>A",
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"transcript": "ENST00000593484.1",
"protein_id": "ENSP00000471765.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000593484.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "HOMER3",
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"hgvs_c": "c.*47G>A",
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"transcript": "ENST00000596482.5",
"protein_id": "ENSP00000472815.1",
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"aa_length": 242,
"cds_start": null,
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"cds_length": 730,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596482.5"
}
],
"gene_symbol": "HOMER3",
"gene_hgnc_id": 17514,
"dbsnp": "rs139883016",
"frequency_reference_population": 0.0015077264,
"hom_count_reference_population": 27,
"allele_count_reference_population": 2433,
"gnomad_exomes_af": 0.000825272,
"gnomad_genomes_af": 0.00805372,
"gnomad_exomes_ac": 1206,
"gnomad_genomes_ac": 1227,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"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": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.328,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004838.4",
"gene_symbol": "HOMER3",
"hgnc_id": 17514,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Gln259Gln"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000596918.5",
"gene_symbol": "ENSG00000268193",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*50G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}