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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: 3-175097003-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=175097003&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 175097003,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_207015.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.257C>A",
"hgvs_p": "p.Ser86Tyr",
"transcript": "NM_207015.3",
"protein_id": "NP_996898.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 795,
"cds_start": 257,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000454872.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207015.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.257C>A",
"hgvs_p": "p.Ser86Tyr",
"transcript": "ENST00000454872.6",
"protein_id": "ENSP00000404705.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 795,
"cds_start": 257,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207015.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454872.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "n.343C>A",
"hgvs_p": null,
"transcript": "ENST00000485853.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000485853.5"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "ENST00000434257.1",
"protein_id": "ENSP00000409858.1",
"transcript_support_level": 4,
"aa_start": 69,
"aa_end": null,
"aa_length": 114,
"cds_start": 206,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434257.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ser96Tyr",
"transcript": "XM_011512612.4",
"protein_id": "XP_011510914.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 805,
"cds_start": 287,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512612.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.236C>A",
"hgvs_p": "p.Ser79Tyr",
"transcript": "XM_011512613.3",
"protein_id": "XP_011510915.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 788,
"cds_start": 236,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512613.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_006713560.4",
"protein_id": "XP_006713623.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713560.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_017006071.2",
"protein_id": "XP_016861560.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006071.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_017006073.2",
"protein_id": "XP_016861562.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006073.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_017006074.3",
"protein_id": "XP_016861563.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006074.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_017006075.3",
"protein_id": "XP_016861564.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006075.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_017006076.2",
"protein_id": "XP_016861565.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006076.2"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_017006077.3",
"protein_id": "XP_016861566.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006077.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_017006078.3",
"protein_id": "XP_016861567.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006078.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_017006080.3",
"protein_id": "XP_016861569.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006080.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_047447876.1",
"protein_id": "XP_047303832.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447876.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_047447877.1",
"protein_id": "XP_047303833.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447877.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.206C>A",
"hgvs_p": "p.Ser69Tyr",
"transcript": "XM_047447878.1",
"protein_id": "XP_047303834.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 778,
"cds_start": 206,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447878.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ser96Tyr",
"transcript": "XM_011512615.4",
"protein_id": "XP_011510917.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 757,
"cds_start": 287,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512615.4"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.287C>A",
"hgvs_p": "p.Ser96Tyr",
"transcript": "XM_017006081.3",
"protein_id": "XP_016861570.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 756,
"cds_start": 287,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006081.3"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.257C>A",
"hgvs_p": "p.Ser86Tyr",
"transcript": "XM_047447879.1",
"protein_id": "XP_047303835.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 747,
"cds_start": 257,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447879.1"
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"hgvs_c": "c.236C>A",
"hgvs_p": "p.Ser79Tyr",
"transcript": "XM_047447880.1",
"protein_id": "XP_047303836.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 740,
"cds_start": 236,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447880.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"feature": "XM_011512617.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"hgvs_c": "c.236C>A",
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"feature": "XM_047447881.1"
},
{
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"protein_coding": false,
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"consequences": [
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],
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"biotype": "pseudogene",
"feature": "ENST00000473253.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 3,
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"feature": "ENST00000436929.1"
},
{
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],
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"feature": "ENST00000453180.6"
},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 3,
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"gene_symbol": "NAALADL2-AS3",
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"feature": "ENST00000809423.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "NAALADL2-AS3",
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"hgvs_c": "n.110+15541G>T",
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"transcript": "NR_046390.1",
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"feature": "NR_046390.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 14,
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"gene_symbol": "NAALADL2",
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"hgvs_c": "c.-500C>A",
"hgvs_p": null,
"transcript": "XM_017006083.2",
"protein_id": "XP_016861572.1",
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"aa_end": null,
"aa_length": 602,
"cds_start": null,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006083.2"
}
],
"gene_symbol": "NAALADL2",
"gene_hgnc_id": 23219,
"dbsnp": "rs759833088",
"frequency_reference_population": 0.0000068181453,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684321,
"gnomad_genomes_af": 0.00000657722,
"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": 0.16875025629997253,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0879,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.686,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_207015.3",
"gene_symbol": "NAALADL2",
"hgnc_id": 23219,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.257C>A",
"hgvs_p": "p.Ser86Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000436929.1",
"gene_symbol": "NAALADL2-AS3",
"hgnc_id": 41014,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.57+15541G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}