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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: 1-1787388-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1787388&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1787388,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_002074.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "NM_002074.5",
"protein_id": "NP_002065.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378609.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002074.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000378609.9",
"protein_id": "ENSP00000367872.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002074.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378609.9"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.1020C>T",
"hgvs_p": "p.Asp340Asp",
"transcript": "ENST00000947520.1",
"protein_id": "ENSP00000617579.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 358,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947520.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Asp334Asp",
"transcript": "ENST00000947524.1",
"protein_id": "ENSP00000617583.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 352,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947524.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.1002C>T",
"hgvs_p": "p.Asp334Asp",
"transcript": "ENST00000947538.1",
"protein_id": "ENSP00000617597.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 352,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947538.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "NM_001282539.2",
"protein_id": "NP_001269468.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282539.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000610897.4",
"protein_id": "ENSP00000481878.1",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610897.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703692.1",
"protein_id": "ENSP00000515427.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703692.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703693.1",
"protein_id": "ENSP00000515428.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703693.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703694.1",
"protein_id": "ENSP00000515429.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703694.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703696.1",
"protein_id": "ENSP00000515431.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703696.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703697.1",
"protein_id": "ENSP00000515432.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703697.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703699.1",
"protein_id": "ENSP00000515433.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703699.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703700.1",
"protein_id": "ENSP00000515434.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703700.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703701.1",
"protein_id": "ENSP00000515435.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703701.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703702.1",
"protein_id": "ENSP00000515436.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703702.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703703.1",
"protein_id": "ENSP00000515437.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703703.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703704.1",
"protein_id": "ENSP00000515438.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703704.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703706.1",
"protein_id": "ENSP00000515440.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703706.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703708.1",
"protein_id": "ENSP00000515442.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703708.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703709.1",
"protein_id": "ENSP00000515443.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703709.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp",
"transcript": "ENST00000703710.1",
"protein_id": "ENSP00000515444.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 966,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"hgvs_p": "p.Asp309Asp",
"transcript": "XM_047418073.1",
"protein_id": "XP_047274029.1",
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"aa_start": 309,
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"biotype": "protein_coding",
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},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 11,
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"gene_symbol": "GNB1",
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"transcript": "XM_047418074.1",
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"biotype": "protein_coding",
"feature": "XM_047418074.1"
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 10,
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"gene_symbol": "GNB1",
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"hgvs_c": "c.927C>T",
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"transcript": "XM_047418076.1",
"protein_id": "XP_047274032.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047418076.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Asp309Asp",
"transcript": "XM_047418078.1",
"protein_id": "XP_047274034.1",
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"aa_start": 309,
"aa_end": null,
"aa_length": 327,
"cds_start": 927,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418078.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
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"hgvs_c": "n.*179C>T",
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"transcript": "ENST00000703695.1",
"protein_id": "ENSP00000515430.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703695.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "n.255C>T",
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"transcript": "ENST00000703698.1",
"protein_id": null,
"transcript_support_level": null,
"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000703698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "n.*179C>T",
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"transcript": "ENST00000703695.1",
"protein_id": "ENSP00000515430.1",
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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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703695.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000302550",
"gene_hgnc_id": null,
"hgvs_c": "n.78+4153G>A",
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"transcript": "ENST00000787789.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000787789.1"
}
],
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"dbsnp": "rs766891832",
"frequency_reference_population": 0.000006197138,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615817,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3009999990463257,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.301,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.571,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002074.5",
"gene_symbol": "GNB1",
"hgnc_id": 4396,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Asp322Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000787789.1",
"gene_symbol": "ENSG00000302550",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.78+4153G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}