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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: 1-179383491-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=179383491&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 179383491,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_144696.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "NM_144696.6",
"protein_id": "NP_653297.3",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1012,
"cds_start": 688,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367618.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144696.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "ENST00000367618.8",
"protein_id": "ENSP00000356590.3",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 1012,
"cds_start": 688,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144696.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367618.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.490A>G",
"hgvs_p": "p.Thr164Ala",
"transcript": "ENST00000434088.1",
"protein_id": "ENSP00000391716.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 872,
"cds_start": 490,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "n.688A>G",
"hgvs_p": null,
"transcript": "ENST00000511157.5",
"protein_id": "ENSP00000424373.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000511157.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "ENST00000617277.4",
"protein_id": "ENSP00000482167.1",
"transcript_support_level": 5,
"aa_start": 230,
"aa_end": null,
"aa_length": 529,
"cds_start": 688,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617277.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_011509165.2",
"protein_id": "XP_011507467.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1014,
"cds_start": 688,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509165.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_011509166.4",
"protein_id": "XP_011507468.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1014,
"cds_start": 688,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509166.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_011509167.4",
"protein_id": "XP_011507469.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1014,
"cds_start": 688,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509167.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_011509168.2",
"protein_id": "XP_011507470.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1014,
"cds_start": 688,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509168.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.625A>G",
"hgvs_p": "p.Thr209Ala",
"transcript": "XM_011509169.2",
"protein_id": "XP_011507471.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 993,
"cds_start": 625,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509169.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_011509170.2",
"protein_id": "XP_011507472.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 978,
"cds_start": 688,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509170.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Thr188Ala",
"transcript": "XM_011509171.2",
"protein_id": "XP_011507473.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 972,
"cds_start": 562,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509171.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Thr188Ala",
"transcript": "XM_024453104.2",
"protein_id": "XP_024308872.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 972,
"cds_start": 562,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453104.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Thr188Ala",
"transcript": "XM_024453107.2",
"protein_id": "XP_024308875.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 972,
"cds_start": 562,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453107.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_011509174.2",
"protein_id": "XP_011507476.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 940,
"cds_start": 688,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509174.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_011509175.2",
"protein_id": "XP_011507477.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 938,
"cds_start": 688,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509175.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_011509176.2",
"protein_id": "XP_011507478.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 915,
"cds_start": 688,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509176.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_011509178.3",
"protein_id": "XP_011507480.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 815,
"cds_start": 688,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509178.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.52A>G",
"hgvs_p": "p.Thr18Ala",
"transcript": "XM_011509179.2",
"protein_id": "XP_011507481.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 802,
"cds_start": 52,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509179.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_011509180.2",
"protein_id": "XP_011507482.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 797,
"cds_start": 688,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509180.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala",
"transcript": "XM_047444817.1",
"protein_id": "XP_047300773.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 655,
"cds_start": 688,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444817.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.-1+735A>G",
"hgvs_p": null,
"transcript": "XM_017000257.2",
"protein_id": "XP_016855746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000257.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 2,
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"gene_symbol": "AXDND1",
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"transcript": "XM_017000258.2",
"protein_id": "XP_016855747.1",
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"aa_end": null,
"aa_length": 721,
"cds_start": null,
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"cds_length": 2166,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017000258.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "AXDND1",
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"hgvs_c": "n.442A>G",
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"transcript": "ENST00000461179.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461179.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 7,
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"gene_symbol": "AXDND1",
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"hgvs_c": "n.458A>G",
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"transcript": "ENST00000510593.5",
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000510593.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 26,
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"gene_symbol": "AXDND1",
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"hgvs_c": "n.877A>G",
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"transcript": "NR_073544.2",
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"biotype": "pseudogene",
"feature": "NR_073544.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 22,
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"gene_symbol": "AXDND1",
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"hgvs_c": "n.824A>G",
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"transcript": "XR_921741.2",
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"biotype": "pseudogene",
"feature": "XR_921741.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "AXDND1",
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"hgvs_c": "n.824A>G",
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"transcript": "XR_921742.3",
"protein_id": null,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_921742.3"
}
],
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"dbsnp": null,
"frequency_reference_population": 0.0000013681575,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136816,
"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": 0.05241638422012329,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0657,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.441,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_144696.6",
"gene_symbol": "AXDND1",
"hgnc_id": 26564,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.688A>G",
"hgvs_p": "p.Thr230Ala"
}
],
"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
}