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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: 11-47438029-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47438029&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47438029,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001440490.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1185G>A",
"hgvs_p": "p.Gly395Gly",
"transcript": "NM_005055.5",
"protein_id": "NP_005046.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 412,
"cds_start": 1185,
"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": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1185G>A",
"hgvs_p": "p.Gly395Gly",
"transcript": "ENST00000298854.7",
"protein_id": "ENSP00000298854.2",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 412,
"cds_start": 1185,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.Gly336Gly",
"transcript": "ENST00000352508.7",
"protein_id": "ENSP00000298853.3",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 353,
"cds_start": 1008,
"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": "D",
"aa_alt": "N",
"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.1321G>A",
"hgvs_p": "p.Asp441Asn",
"transcript": "NM_001440490.1",
"protein_id": "NP_001427419.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 520,
"cds_start": 1321,
"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": "D",
"aa_alt": "N",
"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.1270G>A",
"hgvs_p": "p.Asp424Asn",
"transcript": "NM_001440491.1",
"protein_id": "NP_001427420.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 503,
"cds_start": 1270,
"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": "D",
"aa_alt": "N",
"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.988G>A",
"hgvs_p": "p.Asp330Asn",
"transcript": "NM_001440493.1",
"protein_id": "NP_001427422.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 409,
"cds_start": 988,
"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": "D",
"aa_alt": "N",
"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.985G>A",
"hgvs_p": "p.Asp329Asn",
"transcript": "NM_001440494.1",
"protein_id": "NP_001427423.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 408,
"cds_start": 985,
"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": "D",
"aa_alt": "N",
"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.931G>A",
"hgvs_p": "p.Asp311Asn",
"transcript": "NM_001440496.1",
"protein_id": "NP_001427425.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 390,
"cds_start": 931,
"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": "D",
"aa_alt": "N",
"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.808G>A",
"hgvs_p": "p.Asp270Asn",
"transcript": "NM_001440501.1",
"protein_id": "NP_001427430.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 349,
"cds_start": 808,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1176G>A",
"hgvs_p": "p.Gly392Gly",
"transcript": "ENST00000949301.1",
"protein_id": "ENSP00000619360.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 409,
"cds_start": 1176,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1173G>A",
"hgvs_p": "p.Gly391Gly",
"transcript": "ENST00000949304.1",
"protein_id": "ENSP00000619363.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 408,
"cds_start": 1173,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1131G>A",
"hgvs_p": "p.Gly377Gly",
"transcript": "NM_001440495.1",
"protein_id": "NP_001427424.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 394,
"cds_start": 1131,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1131G>A",
"hgvs_p": "p.Gly377Gly",
"transcript": "ENST00000897203.1",
"protein_id": "ENSP00000567262.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 394,
"cds_start": 1131,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.Gly354Gly",
"transcript": "NM_001440497.1",
"protein_id": "NP_001427426.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 371,
"cds_start": 1062,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.Gly354Gly",
"transcript": "ENST00000897204.1",
"protein_id": "ENSP00000567263.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 371,
"cds_start": 1062,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1026G>A",
"hgvs_p": "p.Gly342Gly",
"transcript": "NM_001440499.1",
"protein_id": "NP_001427428.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 359,
"cds_start": 1026,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1026G>A",
"hgvs_p": "p.Gly342Gly",
"transcript": "ENST00000524487.5",
"protein_id": "ENSP00000435551.2",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 359,
"cds_start": 1026,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.Gly336Gly",
"transcript": "NM_032645.5",
"protein_id": "NP_116034.2",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 353,
"cds_start": 1008,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.972G>A",
"hgvs_p": "p.Gly324Gly",
"transcript": "NM_001440502.1",
"protein_id": "NP_001427431.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 341,
"cds_start": 972,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.972G>A",
"hgvs_p": "p.Gly324Gly",
"transcript": "ENST00000949303.1",
"protein_id": "ENSP00000619362.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 341,
"cds_start": 972,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.903G>A",
"hgvs_p": "p.Gly301Gly",
"transcript": "NM_001440503.1",
"protein_id": "NP_001427432.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 318,
"cds_start": 903,
"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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.903G>A",
"hgvs_p": "p.Gly301Gly",
"transcript": "ENST00000949305.1",
"protein_id": "ENSP00000619364.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 318,
"cds_start": 903,
"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"
},
{
"aa_ref": "G",
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"protein_coding": true,
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{
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},
{
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],
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"biotype": "protein_coding",
"feature": "NM_001440492.1"
},
{
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"protein_coding": true,
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"3_prime_UTR_variant"
],
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"transcript": "NM_001440498.1",
"protein_id": "NP_001427427.1",
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"feature": "NM_001440498.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"gene_symbol": "RAPSN",
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"hgvs_c": "c.*630G>A",
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"transcript": "NM_001440500.1",
"protein_id": "NP_001427429.1",
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"biotype": "protein_coding",
"feature": "NM_001440500.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
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"gene_symbol": "RAPSN",
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"hgvs_c": "n.140G>A",
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"transcript": "ENST00000528356.1",
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "LOC124902673",
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"hgvs_c": "n.144+262C>T",
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"transcript": "XR_007062669.1",
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"biotype": "pseudogene",
"feature": "XR_007062669.1"
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],
"gene_symbol": "RAPSN",
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"dbsnp": "rs1287446389",
"frequency_reference_population": 0.0000014309632,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000143096,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.287,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.334,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BP6_Moderate",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001440490.1",
"gene_symbol": "RAPSN",
"hgnc_id": 9863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Asp441Asn"
},
{
"score": -1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007062669.1",
"gene_symbol": "LOC124902673",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.144+262C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 1",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Congenital myasthenic syndrome 11;Fetal akinesia deformation sequence 1",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}