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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: 8-71299174-TGAGCTGTTATAATACTGTGCGTACTGACCCTGGCCAAAACTGGGATAAGACGGATAGTCCTACCAAATCAAACC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=71299174&ref=TGAGCTGTTATAATACTGTGCGTACTGACCCTGGCCAAAACTGGGATAAGACGGATAGTCCTACCAAATCAAACC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 71299174,
"ref": "TGAGCTGTTATAATACTGTGCGTACTGACCCTGGCCAAAACTGGGATAAGACGGATAGTCCTACCAAATCAAACC",
"alt": "T",
"effect": "frameshift_variant,splice_acceptor_variant,splice_region_variant,intron_variant",
"transcript": "ENST00000340726.8",
"consequences": [
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.640-15_698delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp214fs",
"transcript": "NM_000503.6",
"protein_id": "NP_000494.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 592,
"cds_start": 640,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": "ENST00000340726.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.640-15_698delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp214fs",
"transcript": "ENST00000340726.8",
"protein_id": "ENSP00000342626.3",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 592,
"cds_start": 640,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": "NM_000503.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.640-15_698delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp214fs",
"transcript": "ENST00000388742.8",
"protein_id": "ENSP00000373394.4",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 592,
"cds_start": 640,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.625-15_683delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp209fs",
"transcript": "ENST00000419131.6",
"protein_id": "ENSP00000410176.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 557,
"cds_start": 625,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "n.*407-15_*465delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": null,
"transcript": "ENST00000642391.1",
"protein_id": "ENSP00000496700.1",
"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": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.727-15_785delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp243fs",
"transcript": "NM_001370333.1",
"protein_id": "NP_001357262.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 621,
"cds_start": 727,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.727-15_785delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp243fs",
"transcript": "ENST00000643681.1",
"protein_id": "ENSP00000495390.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 621,
"cds_start": 727,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.640-15_698delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp214fs",
"transcript": "NM_001370334.1",
"protein_id": "NP_001357263.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 592,
"cds_start": 640,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.640-15_698delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp214fs",
"transcript": "NM_001370335.1",
"protein_id": "NP_001357264.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 592,
"cds_start": 640,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.640-15_698delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp214fs",
"transcript": "NM_172058.4",
"protein_id": "NP_742055.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 592,
"cds_start": 640,
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"cds_length": 1779,
"cdna_start": 947,
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"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.640-15_698delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp214fs",
"transcript": "ENST00000645793.1",
"protein_id": "ENSP00000496255.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 592,
"cds_start": 640,
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"cdna_start": 1344,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.640-15_698delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp214fs",
"transcript": "ENST00000647540.1",
"protein_id": "ENSP00000494438.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 592,
"cds_start": 640,
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"cds_length": 1779,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.637-15_695delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp213fs",
"transcript": "ENST00000388743.6",
"protein_id": "ENSP00000373395.2",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
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"cds_start": 637,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.622-15_680delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp208fs",
"transcript": "NM_001288574.2",
"protein_id": "NP_001275503.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 586,
"cds_start": 622,
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"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.712-15_770delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp238fs",
"transcript": "NM_172059.5",
"protein_id": "NP_742056.2",
"transcript_support_level": null,
"aa_start": 238,
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"cds_start": 712,
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"cdna_start": 1032,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.622-15_680delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp208fs",
"transcript": "ENST00000303824.11",
"protein_id": "ENSP00000303221.7",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 586,
"cds_start": 622,
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"cdna_start": 948,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.712-15_770delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp238fs",
"transcript": "ENST00000644229.1",
"protein_id": "ENSP00000494568.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 586,
"cds_start": 712,
"cds_end": null,
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"cdna_start": 975,
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"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"hgvs_c": "c.709-15_767delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp237fs",
"transcript": "NM_001370336.1",
"protein_id": "NP_001357265.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 585,
"cds_start": 709,
"cds_end": null,
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"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QDYPSYPSFGQGQYAQYYNSS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
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},
{
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},
{
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"transcript": "ENST00000493349.2",
"protein_id": "ENSP00000428517.2",
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}
],
"gene_symbol": "EYA1",
"gene_hgnc_id": 3519,
"dbsnp": "rs1554541834",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.608,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000340726.8",
"gene_symbol": "EYA1",
"hgnc_id": 3519,
"effects": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.640-15_698delGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTC",
"hgvs_p": "p.Asp214fs"
}
],
"clinvar_disease": "Melnick-Fraser syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "not provided|Melnick-Fraser syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}