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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: 1-6820164-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6820164&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6820164,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_015215.4",
"consequences": [
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "NM_015215.4",
"protein_id": "NP_056030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1673,
"cds_start": -4,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "ENST00000303635.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "ENST00000303635.12",
"protein_id": "ENSP00000306522.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1673,
"cds_start": -4,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "NM_015215.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "ENST00000476864.2",
"protein_id": "ENSP00000452319.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": -4,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "ENST00000473578.5",
"protein_id": "ENSP00000451388.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": -4,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.26-4928A>G",
"hgvs_p": null,
"transcript": "NM_001349608.2",
"protein_id": "NP_001336537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1643,
"cds_start": -4,
"cds_end": null,
"cds_length": 4932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "NM_001349609.2",
"protein_id": "NP_001336538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1567,
"cds_start": -4,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "NM_001349610.2",
"protein_id": "NP_001336539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1565,
"cds_start": -4,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "NM_001410737.1",
"protein_id": "NP_001397666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": -4,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.26-4928A>G",
"hgvs_p": null,
"transcript": "NM_001349612.2",
"protein_id": "NP_001336541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1537,
"cds_start": -4,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.26-4928A>G",
"hgvs_p": null,
"transcript": "ENST00000700415.1",
"protein_id": "ENSP00000514979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1537,
"cds_start": -4,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "NM_001410738.1",
"protein_id": "NP_001397667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1536,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
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"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
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"transcript": "ENST00000700417.1",
"protein_id": "ENSP00000514981.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "NM_001242701.2",
"protein_id": "NP_001229630.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "ENST00000557126.5",
"protein_id": "ENSP00000451510.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.152-4928A>G",
"hgvs_p": null,
"transcript": "NM_001349627.2",
"protein_id": "NP_001336556.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.152-4928A>G",
"hgvs_p": null,
"transcript": "ENST00000467404.6",
"protein_id": "ENSP00000450530.1",
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"aa_start": null,
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},
{
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],
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"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "ENST00000700416.1",
"protein_id": "ENSP00000514980.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46-17A>G",
"hgvs_p": null,
"transcript": "NM_001195563.2",
"protein_id": "NP_001182492.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.25-17A>G",
"hgvs_p": null,
"transcript": "ENST00000461311.1",
"protein_id": "ENSP00000452184.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "CAMTA1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CAMTA1",
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"transcript": "ENST00000486138.2",
"protein_id": "ENSP00000452505.2",
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},
{
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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,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.123-4928A>G",
"hgvs_p": null,
"transcript": "ENST00000490738.5",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.46-17A>G",
"hgvs_p": null,
"transcript": "ENST00000700414.1",
"protein_id": "ENSP00000514978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.123-17A>G",
"hgvs_p": null,
"transcript": "XR_001737062.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.123-17A>G",
"hgvs_p": null,
"transcript": "XR_001737064.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.123-17A>G",
"hgvs_p": null,
"transcript": "XR_007057950.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "n.-41A>G",
"hgvs_p": null,
"transcript": "ENST00000700418.1",
"protein_id": "ENSP00000514982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"dbsnp": "rs1646323789",
"frequency_reference_population": 0.0000032343148,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000323431,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.23999999463558197,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.863,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015215.4",
"gene_symbol": "CAMTA1",
"hgnc_id": 18806,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.46-17A>G",
"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
}