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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: 10-121520161-GCG-AGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=121520161&ref=GCG&alt=AGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 121520161,
"ref": "GCG",
"alt": "AGA",
"effect": "missense_variant",
"transcript": "ENST00000457416.7",
"consequences": [
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "NM_000141.5",
"protein_id": "NP_000132.3",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 821,
"cds_start": 755,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": "ENST00000358487.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "ENST00000358487.10",
"protein_id": "ENSP00000351276.6",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 821,
"cds_start": 755,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": "NM_000141.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "ENST00000457416.7",
"protein_id": "ENSP00000410294.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 822,
"cds_start": 755,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "ENST00000369056.5",
"protein_id": "ENSP00000358052.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 769,
"cds_start": 755,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "ENST00000369058.7",
"protein_id": "ENSP00000358054.3",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 767,
"cds_start": 755,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.488_490delCGCinsTCT",
"hgvs_p": "p.SerPro163PheSer",
"transcript": "ENST00000613048.4",
"protein_id": "ENSP00000484154.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 732,
"cds_start": 488,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.410_412delCGCinsTCT",
"hgvs_p": "p.SerPro137PheSer",
"transcript": "ENST00000369059.5",
"protein_id": "ENSP00000358055.1",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 707,
"cds_start": 410,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "ENST00000369060.8",
"protein_id": "ENSP00000358056.4",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 705,
"cds_start": 755,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.410_412delCGCinsTCT",
"hgvs_p": "p.SerPro137PheSer",
"transcript": "ENST00000356226.8",
"protein_id": "ENSP00000348559.4",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 704,
"cds_start": 410,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.488_490delCGCinsTCT",
"hgvs_p": "p.SerPro163PheSer",
"transcript": "ENST00000360144.7",
"protein_id": "ENSP00000353262.3",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 680,
"cds_start": 488,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.71_73delCGCinsTCT",
"hgvs_p": "p.SerPro24PheSer",
"transcript": "ENST00000478859.5",
"protein_id": "ENSP00000474011.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 593,
"cds_start": 71,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.1016_1018delCGCinsTCT",
"hgvs_p": null,
"transcript": "ENST00000490349.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.410_412delCGCinsTCT",
"hgvs_p": null,
"transcript": "ENST00000604236.5",
"protein_id": "ENSP00000474109.1",
"transcript_support_level": 1,
"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": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.749-4844_749-4842delCGCinsTCT",
"hgvs_p": null,
"transcript": "ENST00000369061.8",
"protein_id": "ENSP00000358057.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 709,
"cds_start": -4,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
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"cdna_length": 3803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "NM_022970.4",
"protein_id": "NP_075259.4",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 822,
"cds_start": 755,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "NM_001441087.1",
"protein_id": "NP_001428016.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 820,
"cds_start": 755,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 4621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "NM_001320658.2",
"protein_id": "NP_001307587.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 819,
"cds_start": 755,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "ENST00000346997.6",
"protein_id": "ENSP00000263451.5",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 819,
"cds_start": 755,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "ENST00000351936.11",
"protein_id": "ENSP00000309878.10",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 819,
"cds_start": 755,
"cds_end": null,
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"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "ENST00000683211.1",
"protein_id": "ENSP00000508257.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 819,
"cds_start": 755,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 3751,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer",
"transcript": "NM_001144913.1",
"protein_id": "NP_001138385.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 769,
"cds_start": 755,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.488_490delCGCinsTCT",
"hgvs_p": "p.SerPro163PheSer",
"transcript": "NM_023029.3",
"protein_id": "NP_075418.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 732,
"cds_start": 488,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SP",
"aa_alt": "FS",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"transcript": "NR_073009.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 13,
"intron_rank": null,
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"protein_id": "ENSP00000491912.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
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"gene_symbol": "FGFR2",
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"transcript": "ENST00000682772.1",
"protein_id": "ENSP00000506848.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 5,
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"gene_symbol": "FGFR2",
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"hgvs_c": "c.749-4844_749-4842delCGCinsTCT",
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"transcript": "NM_001144914.1",
"protein_id": "NP_001138386.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.404-16222_404-16220delCGCinsTCT",
"hgvs_p": null,
"transcript": "ENST00000683250.1",
"protein_id": "ENSP00000506847.1",
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"aa_start": null,
"aa_end": null,
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"cds_end": null,
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"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"dbsnp": "rs281865420",
"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,
"gnomad_genomes_homalt": null,
"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": 9.994,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PP2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000457416.7",
"gene_symbol": "FGFR2",
"hgnc_id": 3689,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.755_757delCGCinsTCT",
"hgvs_p": "p.SerPro252PheSer"
}
],
"clinvar_disease": "Pfeiffer syndrome variant",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Pfeiffer syndrome variant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}