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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: 16-23635825-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23635825&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23635825,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024675.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "ENST00000568219.5",
"protein_id": "ENSP00000454703.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Asn241Asp",
"transcript": "NM_024675.4",
"protein_id": "NP_078951.2",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1186,
"cds_start": 721,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "ENST00000261584.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Asn241Asp",
"transcript": "ENST00000261584.9",
"protein_id": "ENSP00000261584.4",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 1186,
"cds_start": 721,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "NM_024675.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "ENST00000568219.5",
"protein_id": "ENSP00000454703.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "NM_001407304.1",
"protein_id": "NP_001394233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "NM_001407305.1",
"protein_id": "NP_001394234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "NM_001407306.1",
"protein_id": "NP_001394235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "ENST00000697374.1",
"protein_id": "ENSP00000513284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "NM_001407307.1",
"protein_id": "NP_001394236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "NM_001407308.1",
"protein_id": "NP_001394237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 812,
"cds_start": -4,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "NM_001407309.1",
"protein_id": "NP_001394238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 812,
"cds_start": -4,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
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"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "NM_001407310.1",
"protein_id": "NP_001394239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
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"cds_length": 2331,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "NM_001407311.1",
"protein_id": "NP_001394240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.-165A>G",
"hgvs_p": null,
"transcript": "ENST00000697376.1",
"protein_id": "ENSP00000513285.1",
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.-165A>G",
"hgvs_p": null,
"transcript": "ENST00000697382.1",
"protein_id": "ENSP00000513288.1",
"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": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Asn243Asp",
"transcript": "ENST00000561514.3",
"protein_id": "ENSP00000460666.3",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 1188,
"cds_start": 727,
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"cdna_start": 1726,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Asn243Asp",
"transcript": "ENST00000697379.2",
"protein_id": "ENSP00000513287.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 1188,
"cds_start": 727,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.661A>G",
"hgvs_p": "p.Asn221Asp",
"transcript": "NM_001407296.1",
"protein_id": "NP_001394225.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1166,
"cds_start": 661,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 814,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Asn241Asp",
"transcript": "NM_001407297.1",
"protein_id": "NP_001394226.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1162,
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"cdna_start": 874,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Asn243Asp",
"transcript": "ENST00000697377.2",
"protein_id": "ENSP00000513286.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 1134,
"cds_start": 727,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Asn241Asp",
"transcript": "NM_001407298.1",
"protein_id": "NP_001394227.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1132,
"cds_start": 721,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Asn241Asp",
"transcript": "NM_001407299.1",
"protein_id": "NP_001394228.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1107,
"cds_start": 721,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PALB2",
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"transcript": "NM_001407314.1",
"protein_id": "NP_001394243.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": -4,
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"cds_length": 1095,
"cdna_start": null,
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"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.48+5285A>G",
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"transcript": "ENST00000697383.1",
"protein_id": "ENSP00000513289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": -4,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
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"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "n.211+2025A>G",
"hgvs_p": null,
"transcript": "ENST00000565038.2",
"protein_id": "ENSP00000459882.2",
"transcript_support_level": 3,
"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": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"dbsnp": "rs113217267",
"frequency_reference_population": 0.00033267995,
"hom_count_reference_population": 3,
"allele_count_reference_population": 537,
"gnomad_exomes_af": 0.000173066,
"gnomad_genomes_af": 0.00186486,
"gnomad_exomes_ac": 253,
"gnomad_genomes_ac": 284,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0047366321086883545,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0786,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.491,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP2_Strong,BS2,BA1,BP1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP2_Strong",
"BS2",
"BA1",
"BP1"
],
"verdict": "Benign",
"transcript": "NM_024675.4",
"gene_symbol": "PALB2",
"hgnc_id": 26144,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Asn241Asp"
}
],
"clinvar_disease": " 5, familial, susceptibility to,Breast and/or ovarian cancer,Breast-ovarian cancer,Familial cancer of breast,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome,Malignant tumor of breast,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:4 B:10 O:1",
"phenotype_combined": "not specified|not provided|Familial cancer of breast|Malignant tumor of breast|Breast-ovarian cancer, familial, susceptibility to, 5|Hereditary cancer-predisposing syndrome|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}