← Back to variant description
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: 7-128081455-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128081455&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128081455,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_014390.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2064T>G",
"hgvs_p": "p.Thr688Thr",
"transcript": "NM_014390.4",
"protein_id": "NP_055205.2",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 910,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354725.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014390.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2064T>G",
"hgvs_p": "p.Thr688Thr",
"transcript": "ENST00000354725.8",
"protein_id": "ENSP00000346762.3",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 910,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014390.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354725.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2247T>G",
"hgvs_p": "p.Thr749Thr",
"transcript": "ENST00000903603.1",
"protein_id": "ENSP00000573662.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 971,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903603.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2154T>G",
"hgvs_p": "p.Thr718Thr",
"transcript": "ENST00000915268.1",
"protein_id": "ENSP00000585327.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 940,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915268.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2112T>G",
"hgvs_p": "p.Thr704Thr",
"transcript": "ENST00000903607.1",
"protein_id": "ENSP00000573666.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 926,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903607.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2100T>G",
"hgvs_p": "p.Thr700Thr",
"transcript": "ENST00000944753.1",
"protein_id": "ENSP00000614812.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 922,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944753.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2097T>G",
"hgvs_p": "p.Thr699Thr",
"transcript": "ENST00000944750.1",
"protein_id": "ENSP00000614809.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 921,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944750.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2070T>G",
"hgvs_p": "p.Thr690Thr",
"transcript": "ENST00000944754.1",
"protein_id": "ENSP00000614813.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 912,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944754.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2058T>G",
"hgvs_p": "p.Thr686Thr",
"transcript": "ENST00000915267.1",
"protein_id": "ENSP00000585326.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915267.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2058T>G",
"hgvs_p": "p.Thr686Thr",
"transcript": "ENST00000944748.1",
"protein_id": "ENSP00000614807.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 908,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944748.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2055T>G",
"hgvs_p": "p.Thr685Thr",
"transcript": "ENST00000944749.1",
"protein_id": "ENSP00000614808.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 907,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944749.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2064T>G",
"hgvs_p": "p.Thr688Thr",
"transcript": "ENST00000903609.1",
"protein_id": "ENSP00000573668.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 906,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903609.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2052T>G",
"hgvs_p": "p.Thr684Thr",
"transcript": "ENST00000944752.1",
"protein_id": "ENSP00000614811.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 906,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944752.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2064T>G",
"hgvs_p": "p.Thr688Thr",
"transcript": "ENST00000903604.1",
"protein_id": "ENSP00000573663.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 900,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903604.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1974T>G",
"hgvs_p": "p.Thr658Thr",
"transcript": "ENST00000915265.1",
"protein_id": "ENSP00000585324.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 880,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915265.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1953T>G",
"hgvs_p": "p.Thr651Thr",
"transcript": "ENST00000903606.1",
"protein_id": "ENSP00000573665.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 873,
"cds_start": 1953,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903606.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1950T>G",
"hgvs_p": "p.Thr650Thr",
"transcript": "ENST00000903602.1",
"protein_id": "ENSP00000573661.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 872,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903602.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2064T>G",
"hgvs_p": "p.Thr688Thr",
"transcript": "ENST00000915264.1",
"protein_id": "ENSP00000585323.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 872,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915264.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1914T>G",
"hgvs_p": "p.Thr638Thr",
"transcript": "ENST00000915266.1",
"protein_id": "ENSP00000585325.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 860,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915266.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1881T>G",
"hgvs_p": "p.Thr627Thr",
"transcript": "ENST00000903605.1",
"protein_id": "ENSP00000573664.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 849,
"cds_start": 1881,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903605.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1875T>G",
"hgvs_p": "p.Thr625Thr",
"transcript": "ENST00000903601.1",
"protein_id": "ENSP00000573660.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 847,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903601.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.2064T>G",
"hgvs_p": "p.Thr688Thr",
"transcript": "ENST00000915263.1",
"protein_id": "ENSP00000585322.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 842,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915263.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1734T>G",
"hgvs_p": "p.Thr578Thr",
"transcript": "ENST00000944751.1",
"protein_id": "ENSP00000614810.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 800,
"cds_start": 1734,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944751.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.1104T>G",
"hgvs_p": "p.Thr368Thr",
"transcript": "ENST00000903608.1",
"protein_id": "ENSP00000573667.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 590,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903608.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "c.522T>G",
"hgvs_p": "p.Thr174Thr",
"transcript": "ENST00000486037.1",
"protein_id": "ENSP00000419327.1",
"transcript_support_level": 3,
"aa_start": 174,
"aa_end": null,
"aa_length": 230,
"cds_start": 522,
"cds_end": null,
"cds_length": 695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486037.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "n.448T>G",
"hgvs_p": null,
"transcript": "ENST00000470463.1",
"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": "ENST00000470463.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"hgvs_c": "n.*43T>G",
"hgvs_p": null,
"transcript": "ENST00000470723.5",
"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": "pseudogene",
"feature": "ENST00000470723.5"
}
],
"gene_symbol": "SND1",
"gene_hgnc_id": 30646,
"dbsnp": "rs322825",
"frequency_reference_population": 0.000006817604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684288,
"gnomad_genomes_af": 0.00000657471,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.906,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014390.4",
"gene_symbol": "SND1",
"hgnc_id": 30646,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2064T>G",
"hgvs_p": "p.Thr688Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}