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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: 3-175096900-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=175096900&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 175096900,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_207015.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"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.154A>G",
"hgvs_p": "p.Met52Val",
"transcript": "NM_207015.3",
"protein_id": "NP_996898.2",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 795,
"cds_start": 154,
"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": "M",
"aa_alt": "V",
"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.154A>G",
"hgvs_p": "p.Met52Val",
"transcript": "ENST00000454872.6",
"protein_id": "ENSP00000404705.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 795,
"cds_start": 154,
"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.240A>G",
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "ENST00000434257.1",
"protein_id": "ENSP00000409858.1",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 114,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.184A>G",
"hgvs_p": "p.Met62Val",
"transcript": "XM_011512612.4",
"protein_id": "XP_011510914.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 805,
"cds_start": 184,
"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": "M",
"aa_alt": "V",
"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.133A>G",
"hgvs_p": "p.Met45Val",
"transcript": "XM_011512613.3",
"protein_id": "XP_011510915.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 788,
"cds_start": 133,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_006713560.4",
"protein_id": "XP_006713623.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_017006071.2",
"protein_id": "XP_016861560.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_017006073.2",
"protein_id": "XP_016861562.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_017006074.3",
"protein_id": "XP_016861563.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_017006075.3",
"protein_id": "XP_016861564.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_017006076.2",
"protein_id": "XP_016861565.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_017006077.3",
"protein_id": "XP_016861566.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_017006078.3",
"protein_id": "XP_016861567.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_017006080.3",
"protein_id": "XP_016861569.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_047447876.1",
"protein_id": "XP_047303832.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_047447877.1",
"protein_id": "XP_047303833.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.103A>G",
"hgvs_p": "p.Met35Val",
"transcript": "XM_047447878.1",
"protein_id": "XP_047303834.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 778,
"cds_start": 103,
"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": "M",
"aa_alt": "V",
"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.184A>G",
"hgvs_p": "p.Met62Val",
"transcript": "XM_011512615.4",
"protein_id": "XP_011510917.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 757,
"cds_start": 184,
"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": "M",
"aa_alt": "V",
"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.184A>G",
"hgvs_p": "p.Met62Val",
"transcript": "XM_017006081.3",
"protein_id": "XP_016861570.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 756,
"cds_start": 184,
"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": "M",
"aa_alt": "V",
"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.154A>G",
"hgvs_p": "p.Met52Val",
"transcript": "XM_047447879.1",
"protein_id": "XP_047303835.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 747,
"cds_start": 154,
"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": "M",
"aa_alt": "V",
"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.133A>G",
"hgvs_p": "p.Met45Val",
"transcript": "XM_047447880.1",
"protein_id": "XP_047303836.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 740,
"cds_start": 133,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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"feature": "XM_047447881.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"feature": "ENST00000473253.5"
},
{
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],
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{
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],
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"feature": "ENST00000453180.6"
},
{
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],
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"gene_symbol": "NAALADL2-AS3",
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},
{
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"intron_variant"
],
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"gene_symbol": "NAALADL2-AS3",
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"transcript": "NR_046390.1",
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"biotype": "pseudogene",
"feature": "NR_046390.1"
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],
"gene_symbol": "NAALADL2",
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"dbsnp": "rs375447231",
"frequency_reference_population": 0.00001983453,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000191614,
"gnomad_genomes_af": 0.000026303,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32337188720703125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.264,
"revel_prediction": "Benign",
"alphamissense_score": 0.1561,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.705,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_207015.3",
"gene_symbol": "NAALADL2",
"hgnc_id": 23219,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.154A>G",
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},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000436929.1",
"gene_symbol": "NAALADL2-AS3",
"hgnc_id": 41014,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.57+15644T>C",
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}
],
"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
}