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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: 18-79069490-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=79069490&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 79069490,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198531.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "NM_198531.5",
"protein_id": "NP_940933.3",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1147,
"cds_start": 80,
"cds_end": null,
"cds_length": 3444,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": "ENST00000426216.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198531.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000426216.6",
"protein_id": "ENSP00000398076.2",
"transcript_support_level": 5,
"aa_start": 27,
"aa_end": null,
"aa_length": 1147,
"cds_start": 80,
"cds_end": null,
"cds_length": 3444,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": "NM_198531.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426216.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000307671.12",
"protein_id": "ENSP00000304500.7",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 1136,
"cds_start": 80,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307671.12"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000586722.5",
"protein_id": "ENSP00000466992.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 188,
"cds_start": 80,
"cds_end": null,
"cds_length": 567,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586722.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000899993.1",
"protein_id": "ENSP00000570052.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1173,
"cds_start": 80,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899993.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000899989.1",
"protein_id": "ENSP00000570048.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1162,
"cds_start": 80,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 4510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899989.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000963365.1",
"protein_id": "ENSP00000633424.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1146,
"cds_start": 80,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 105,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963365.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "NM_001306085.2",
"protein_id": "NP_001293014.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1136,
"cds_start": 80,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 4328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306085.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000940834.1",
"protein_id": "ENSP00000610893.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1134,
"cds_start": 80,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940834.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000963369.1",
"protein_id": "ENSP00000633428.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1132,
"cds_start": 80,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963369.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000963368.1",
"protein_id": "ENSP00000633427.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1131,
"cds_start": 80,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963368.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000940836.1",
"protein_id": "ENSP00000610895.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1129,
"cds_start": 80,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940836.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000963370.1",
"protein_id": "ENSP00000633429.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1126,
"cds_start": 80,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 3970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963370.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000899990.1",
"protein_id": "ENSP00000570049.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1106,
"cds_start": 80,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899990.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000963366.1",
"protein_id": "ENSP00000633425.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1099,
"cds_start": 80,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 107,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963366.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000899991.1",
"protein_id": "ENSP00000570050.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1095,
"cds_start": 80,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899991.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000899995.1",
"protein_id": "ENSP00000570054.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1079,
"cds_start": 80,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899995.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000899994.1",
"protein_id": "ENSP00000570053.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1064,
"cds_start": 80,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 89,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899994.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000899992.1",
"protein_id": "ENSP00000570051.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1058,
"cds_start": 80,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 100,
"cdna_end": null,
"cdna_length": 4084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899992.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000940835.1",
"protein_id": "ENSP00000610894.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1053,
"cds_start": 80,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940835.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000963367.1",
"protein_id": "ENSP00000633426.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1038,
"cds_start": 80,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963367.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile",
"transcript": "ENST00000586672.5",
"protein_id": "ENSP00000468218.1",
"transcript_support_level": 4,
"aa_start": 27,
"aa_end": null,
"aa_length": 191,
"cds_start": 80,
"cds_end": null,
"cds_length": 578,
"cdna_start": 85,
"cdna_end": null,
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"biotype": "protein_coding",
"feature": "XM_047437496.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
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"transcript": "XM_017025737.2",
"protein_id": "XP_016881226.1",
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 4009,
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"biotype": "protein_coding",
"feature": "XM_017025737.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "ATP9B",
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"transcript": "XM_017025742.2",
"protein_id": "XP_016881231.1",
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"aa_end": null,
"aa_length": 696,
"cds_start": null,
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"cds_length": 2091,
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"cdna_length": 2392,
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"biotype": "protein_coding",
"feature": "XM_017025742.2"
},
{
"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": 31,
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"gene_symbol": "ATP9B",
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"hgvs_c": "c.27+53G>T",
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"transcript": "ENST00000963364.1",
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"aa_end": null,
"aa_length": 1175,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4357,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000963364.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 10,
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"gene_symbol": "ATP9B",
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"hgvs_c": "n.80G>T",
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"transcript": "ENST00000586366.5",
"protein_id": "ENSP00000467386.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2845,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586366.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 5,
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"gene_symbol": "ATP9B",
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"hgvs_c": "n.9G>T",
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"transcript": "ENST00000591464.5",
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"cdna_length": 565,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000591464.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"hgvs_c": "n.97G>T",
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"transcript": "NR_148360.2",
"protein_id": null,
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"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": 4828,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148360.2"
}
],
"gene_symbol": "ATP9B",
"gene_hgnc_id": 13541,
"dbsnp": "rs749089234",
"frequency_reference_population": 0.00014872383,
"hom_count_reference_population": 0,
"allele_count_reference_population": 219,
"gnomad_exomes_af": 0.000162084,
"gnomad_genomes_af": 0.0000328468,
"gnomad_exomes_ac": 214,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2582204341888428,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.247,
"revel_prediction": "Benign",
"alphamissense_score": 0.1959,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.473,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_198531.5",
"gene_symbol": "ATP9B",
"hgnc_id": 13541,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Ser27Ile"
}
],
"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
}