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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: 21-31671416-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=31671416&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 31671416,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_020706.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3426delA",
"hgvs_p": "p.Ala1143fs",
"transcript": "NM_020706.2",
"protein_id": "NP_065757.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3426,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286835.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020706.2"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3426delA",
"hgvs_p": "p.Ala1143fs",
"transcript": "ENST00000286835.12",
"protein_id": "ENSP00000286835.7",
"transcript_support_level": 1,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3426,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020706.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286835.12"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3381delA",
"hgvs_p": "p.Ala1128fs",
"transcript": "ENST00000434667.3",
"protein_id": "ENSP00000402377.2",
"transcript_support_level": 1,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3381,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434667.3"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3360delA",
"hgvs_p": "p.Ala1121fs",
"transcript": "ENST00000399804.5",
"protein_id": "ENSP00000382703.1",
"transcript_support_level": 1,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3360,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399804.5"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3423delA",
"hgvs_p": "p.Ala1142fs",
"transcript": "ENST00000908758.1",
"protein_id": "ENSP00000578817.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3423,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908758.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3420delA",
"hgvs_p": "p.Ala1141fs",
"transcript": "ENST00000908762.1",
"protein_id": "ENSP00000578821.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908762.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3417delA",
"hgvs_p": "p.Ala1140fs",
"transcript": "ENST00000931674.1",
"protein_id": "ENSP00000601733.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3417,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931674.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3414delA",
"hgvs_p": "p.Ala1139fs",
"transcript": "ENST00000908761.1",
"protein_id": "ENSP00000578820.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3414,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908761.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3408delA",
"hgvs_p": "p.Ala1137fs",
"transcript": "ENST00000949917.1",
"protein_id": "ENSP00000619976.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3408,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949917.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3381delA",
"hgvs_p": "p.Ala1128fs",
"transcript": "NM_001145444.1",
"protein_id": "NP_001138916.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3381,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145444.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3360delA",
"hgvs_p": "p.Ala1121fs",
"transcript": "NM_001145445.1",
"protein_id": "NP_001138917.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3360,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145445.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3357delA",
"hgvs_p": "p.Ala1120fs",
"transcript": "ENST00000908760.1",
"protein_id": "ENSP00000578819.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1124,
"cds_start": 3357,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908760.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3354delA",
"hgvs_p": "p.Ala1119fs",
"transcript": "ENST00000908759.1",
"protein_id": "ENSP00000578818.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3354,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908759.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3348delA",
"hgvs_p": "p.Ala1117fs",
"transcript": "ENST00000908756.1",
"protein_id": "ENSP00000578815.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3348,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908756.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3324delA",
"hgvs_p": "p.Ala1109fs",
"transcript": "ENST00000931675.1",
"protein_id": "ENSP00000601734.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3324,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931675.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3315delA",
"hgvs_p": "p.Ala1106fs",
"transcript": "ENST00000908765.1",
"protein_id": "ENSP00000578824.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3315,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908765.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3249delA",
"hgvs_p": "p.Ala1084fs",
"transcript": "ENST00000908757.1",
"protein_id": "ENSP00000578816.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3249,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908757.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3246delA",
"hgvs_p": "p.Ala1083fs",
"transcript": "ENST00000908763.1",
"protein_id": "ENSP00000578822.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1087,
"cds_start": 3246,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908763.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3237delA",
"hgvs_p": "p.Ala1080fs",
"transcript": "ENST00000908764.1",
"protein_id": "ENSP00000578823.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908764.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3183delA",
"hgvs_p": "p.Ala1062fs",
"transcript": "ENST00000908755.1",
"protein_id": "ENSP00000578814.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3183,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908755.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.2679delA",
"hgvs_p": "p.Ala894fs",
"transcript": "ENST00000931676.1",
"protein_id": "ENSP00000601735.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 898,
"cds_start": 2679,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931676.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3414delA",
"hgvs_p": "p.Ala1139fs",
"transcript": "XM_006724035.4",
"protein_id": "XP_006724098.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3414,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_006724035.4"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3348delA",
"hgvs_p": "p.Ala1117fs",
"transcript": "XM_006724036.4",
"protein_id": "XP_006724099.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1121,
"cds_start": 3348,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_006724036.4"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3249delA",
"hgvs_p": "p.Ala1084fs",
"transcript": "XM_005261017.4",
"protein_id": "XP_005261074.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3249,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261017.4"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3237delA",
"hgvs_p": "p.Ala1080fs",
"transcript": "XM_047440931.1",
"protein_id": "XP_047296887.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440931.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3183delA",
"hgvs_p": "p.Ala1062fs",
"transcript": "XM_017028417.2",
"protein_id": "XP_016883906.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3183,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028417.2"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"hgvs_c": "c.3171delA",
"hgvs_p": "p.Ala1058fs",
"transcript": "XM_047440932.1",
"protein_id": "XP_047296888.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1062,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440932.1"
}
],
"gene_symbol": "SCAF4",
"gene_hgnc_id": 19304,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.0000041057,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.142,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020706.2",
"gene_symbol": "SCAF4",
"hgnc_id": 19304,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3426delA",
"hgvs_p": "p.Ala1143fs"
}
],
"clinvar_disease": "SCAF4-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "SCAF4-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}