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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: 11-47437993-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47437993&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47437993,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001440490.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1221G>A",
"hgvs_p": "p.Met407Ile",
"transcript": "NM_005055.5",
"protein_id": "NP_005046.2",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 412,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298854.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005055.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1221G>A",
"hgvs_p": "p.Met407Ile",
"transcript": "ENST00000298854.7",
"protein_id": "ENSP00000298854.2",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 412,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005055.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298854.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1044G>A",
"hgvs_p": "p.Met348Ile",
"transcript": "ENST00000352508.7",
"protein_id": "ENSP00000298853.3",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 353,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352508.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Glu453Lys",
"transcript": "NM_001440490.1",
"protein_id": "NP_001427419.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 520,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440490.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Glu436Lys",
"transcript": "NM_001440491.1",
"protein_id": "NP_001427420.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 503,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440491.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "NM_001440493.1",
"protein_id": "NP_001427422.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 409,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440493.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1212G>A",
"hgvs_p": "p.Met404Ile",
"transcript": "ENST00000949301.1",
"protein_id": "ENSP00000619360.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 409,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949301.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "NM_001440494.1",
"protein_id": "NP_001427423.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 408,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440494.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1209G>A",
"hgvs_p": "p.Met403Ile",
"transcript": "ENST00000949304.1",
"protein_id": "ENSP00000619363.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 408,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949304.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Met389Ile",
"transcript": "NM_001440495.1",
"protein_id": "NP_001427424.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 394,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440495.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Met389Ile",
"transcript": "ENST00000897203.1",
"protein_id": "ENSP00000567262.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 394,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897203.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Glu323Lys",
"transcript": "NM_001440496.1",
"protein_id": "NP_001427425.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 390,
"cds_start": 967,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440496.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1098G>A",
"hgvs_p": "p.Met366Ile",
"transcript": "NM_001440497.1",
"protein_id": "NP_001427426.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440497.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1098G>A",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000897204.1",
"protein_id": "ENSP00000567263.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897204.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1062G>A",
"hgvs_p": "p.Met354Ile",
"transcript": "NM_001440499.1",
"protein_id": "NP_001427428.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 359,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440499.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1062G>A",
"hgvs_p": "p.Met354Ile",
"transcript": "ENST00000524487.5",
"protein_id": "ENSP00000435551.2",
"transcript_support_level": 5,
"aa_start": 354,
"aa_end": null,
"aa_length": 359,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524487.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1044G>A",
"hgvs_p": "p.Met348Ile",
"transcript": "NM_032645.5",
"protein_id": "NP_116034.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 353,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032645.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Glu282Lys",
"transcript": "NM_001440501.1",
"protein_id": "NP_001427430.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 349,
"cds_start": 844,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440501.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1008G>A",
"hgvs_p": "p.Met336Ile",
"transcript": "NM_001440502.1",
"protein_id": "NP_001427431.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 341,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440502.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1008G>A",
"hgvs_p": "p.Met336Ile",
"transcript": "ENST00000949303.1",
"protein_id": "ENSP00000619362.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 341,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949303.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Met313Ile",
"transcript": "NM_001440503.1",
"protein_id": "NP_001427432.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 318,
"cds_start": 939,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440503.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Met313Ile",
"transcript": "ENST00000949305.1",
"protein_id": "ENSP00000619364.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 318,
"cds_start": 939,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949305.1"
},
{
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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},
{
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],
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"protein_id": "NP_001427421.1",
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"aa_end": null,
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},
{
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],
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"aa_end": null,
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"cds_end": null,
"cds_length": 1116,
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"biotype": "protein_coding",
"feature": "NM_001440498.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"intron_rank_end": null,
"gene_symbol": "RAPSN",
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"cdna_end": null,
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"feature": "NM_001440500.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RAPSN",
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"hgvs_c": "n.176G>A",
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"transcript": "ENST00000528356.1",
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"transcript_support_level": 3,
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"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000528356.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "LOC124902673",
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"hgvs_c": "n.144+226C>T",
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"transcript": "XR_007062669.1",
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007062669.1"
}
],
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"dbsnp": "rs1272838959",
"frequency_reference_population": 0.0000025797665,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000143022,
"gnomad_genomes_af": 0.0000131454,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1586470901966095,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.415,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.23,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.788,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001440490.1",
"gene_symbol": "RAPSN",
"hgnc_id": 9863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Glu453Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007062669.1",
"gene_symbol": "LOC124902673",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.144+226C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital myasthenic syndrome,Congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 2,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Congenital myasthenic syndrome|Fetal akinesia deformation sequence 2;Congenital myasthenic syndrome 11|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}