← 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: 11-47438779-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47438779&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "RAPSN",
"hgnc_id": 9863,
"hgvs_c": "c.1255G>T",
"hgvs_p": "p.Glu419*",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001440490.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124902673",
"hgnc_id": null,
"hgvs_c": "n.144+1012C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_007062669.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_score": 6,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.3014,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2041352391242981,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 412,
"aa_ref": "K",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1119,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_005055.5",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.1119G>T",
"hgvs_p": "p.Lys373Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000298854.7",
"protein_coding": true,
"protein_id": "NP_005046.2",
"strand": false,
"transcript": "NM_005055.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 412,
"aa_ref": "K",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1119,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000298854.7",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.1119G>T",
"hgvs_p": "p.Lys373Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005055.5",
"protein_coding": true,
"protein_id": "ENSP00000298854.2",
"strand": false,
"transcript": "ENST00000298854.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 353,
"aa_ref": "K",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1452,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1062,
"cds_start": 942,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000352508.7",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Lys314Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298853.3",
"strand": false,
"transcript": "ENST00000352508.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 353,
"aa_ref": "K",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1062,
"cds_start": 942,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000529341.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Lys314Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431732.1",
"strand": false,
"transcript": "ENST00000529341.1",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 520,
"aa_ref": "E",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1255,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440490.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.1255G>T",
"hgvs_p": "p.Glu419*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427419.1",
"strand": false,
"transcript": "NM_001440490.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 503,
"aa_ref": "E",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1204,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440491.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.1204G>T",
"hgvs_p": "p.Glu402*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427420.1",
"strand": false,
"transcript": "NM_001440491.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 409,
"aa_ref": "E",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1425,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1230,
"cds_start": 922,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440493.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.922G>T",
"hgvs_p": "p.Glu308*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427422.1",
"strand": false,
"transcript": "NM_001440493.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 412,
"aa_ref": "K",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1119,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440492.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.1119G>T",
"hgvs_p": "p.Lys373Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427421.1",
"strand": false,
"transcript": "NM_001440492.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 409,
"aa_ref": "K",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1110,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949301.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.1110G>T",
"hgvs_p": "p.Lys370Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619360.1",
"strand": false,
"transcript": "ENST00000949301.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 408,
"aa_ref": "K",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1227,
"cds_start": 1107,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949304.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.1107G>T",
"hgvs_p": "p.Lys369Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619363.1",
"strand": false,
"transcript": "ENST00000949304.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 394,
"aa_ref": "K",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1568,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1065,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440495.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.1065G>T",
"hgvs_p": "p.Lys355Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427424.1",
"strand": false,
"transcript": "NM_001440495.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 394,
"aa_ref": "K",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1065,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897203.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.1065G>T",
"hgvs_p": "p.Lys355Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567262.1",
"strand": false,
"transcript": "ENST00000897203.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 371,
"aa_ref": "K",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1499,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1116,
"cds_start": 996,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440497.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Lys332Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427426.1",
"strand": false,
"transcript": "NM_001440497.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 371,
"aa_ref": "K",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1116,
"cds_start": 996,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440498.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Lys332Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427427.1",
"strand": false,
"transcript": "NM_001440498.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 371,
"aa_ref": "K",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1499,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1116,
"cds_start": 996,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000897204.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Lys332Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567263.1",
"strand": false,
"transcript": "ENST00000897204.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 359,
"aa_ref": "K",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1080,
"cds_start": 960,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440499.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.960G>T",
"hgvs_p": "p.Lys320Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427428.1",
"strand": false,
"transcript": "NM_001440499.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 359,
"aa_ref": "K",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1462,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1080,
"cds_start": 960,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000524487.5",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.960G>T",
"hgvs_p": "p.Lys320Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435551.2",
"strand": false,
"transcript": "ENST00000524487.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 353,
"aa_ref": "K",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1062,
"cds_start": 942,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440500.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Lys314Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427429.1",
"strand": false,
"transcript": "NM_001440500.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 353,
"aa_ref": "K",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1062,
"cds_start": 942,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_032645.5",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Lys314Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116034.2",
"strand": false,
"transcript": "NM_032645.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 341,
"aa_ref": "K",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1026,
"cds_start": 906,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440502.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.906G>T",
"hgvs_p": "p.Lys302Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427431.1",
"strand": false,
"transcript": "NM_001440502.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 341,
"aa_ref": "K",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1026,
"cds_start": 906,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949303.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.906G>T",
"hgvs_p": "p.Lys302Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619362.1",
"strand": false,
"transcript": "ENST00000949303.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 318,
"aa_ref": "K",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1340,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 957,
"cds_start": 837,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440503.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.837G>T",
"hgvs_p": "p.Lys279Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427432.1",
"strand": false,
"transcript": "NM_001440503.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 318,
"aa_ref": "K",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 941,
"cds_end": null,
"cds_length": 957,
"cds_start": 837,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949305.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.837G>T",
"hgvs_p": "p.Lys279Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619364.1",
"strand": false,
"transcript": "ENST00000949305.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 300,
"aa_ref": "K",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1307,
"cdna_start": 977,
"cds_end": null,
"cds_length": 903,
"cds_start": 783,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000949302.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.783G>T",
"hgvs_p": "p.Lys261Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619361.1",
"strand": false,
"transcript": "ENST00000949302.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 299,
"aa_ref": "K",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 952,
"cds_end": null,
"cds_length": 900,
"cds_start": 780,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440504.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.780G>T",
"hgvs_p": "p.Lys260Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427433.1",
"strand": false,
"transcript": "NM_001440504.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 408,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": null,
"cds_end": null,
"cds_length": 1227,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440494.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.967-732G>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427423.1",
"strand": false,
"transcript": "NM_001440494.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 390,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1368,
"cdna_start": null,
"cds_end": null,
"cds_length": 1173,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440496.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.913-732G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427425.1",
"strand": false,
"transcript": "NM_001440496.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1245,
"cdna_start": null,
"cds_end": null,
"cds_length": 1050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440501.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "c.790-732G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427430.1",
"strand": false,
"transcript": "NM_001440501.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 405,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528356.1",
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"hgvs_c": "n.122-732G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000528356.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 255,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007062669.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124902673",
"hgvs_c": "n.144+1012C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007062669.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1048200516",
"effect": "stop_gained",
"frequency_reference_population": 0.0000014132438,
"gene_hgnc_id": 9863,
"gene_symbol": "RAPSN",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000141324,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.184,
"pos": 47438779,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.055,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001440490.1"
}
]
}