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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: 17-81935111-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81935111&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81935111,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000329875.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "NM_006907.4",
"protein_id": "NP_008838.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 319,
"cds_start": 355,
"cds_end": null,
"cds_length": 960,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": "ENST00000329875.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "ENST00000329875.13",
"protein_id": "ENSP00000328858.8",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 319,
"cds_start": 355,
"cds_end": null,
"cds_length": 960,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": "NM_006907.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "ENST00000619204.4",
"protein_id": "ENSP00000479793.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 319,
"cds_start": 355,
"cds_end": null,
"cds_length": 960,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "ENST00000337943.9",
"protein_id": "ENSP00000336579.5",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 316,
"cds_start": 355,
"cds_end": null,
"cds_length": 951,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "ENST00000403172.8",
"protein_id": "ENSP00000385483.4",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 288,
"cds_start": 355,
"cds_end": null,
"cds_length": 867,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "NM_001282281.2",
"protein_id": "NP_001269210.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 346,
"cds_start": 436,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000402252.6",
"protein_id": "ENSP00000384949.2",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 346,
"cds_start": 436,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "NM_001282280.2",
"protein_id": "NP_001269209.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 319,
"cds_start": 355,
"cds_end": null,
"cds_length": 960,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "NM_153824.3",
"protein_id": "NP_722546.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 316,
"cds_start": 355,
"cds_end": null,
"cds_length": 951,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "NM_001282279.2",
"protein_id": "NP_001269208.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 288,
"cds_start": 355,
"cds_end": null,
"cds_length": 867,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "ENST00000405481.8",
"protein_id": "ENSP00000386002.4",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 252,
"cds_start": 355,
"cds_end": null,
"cds_length": 759,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.265C>T",
"hgvs_p": "p.Arg89Cys",
"transcript": "ENST00000582198.5",
"protein_id": "ENSP00000463226.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 241,
"cds_start": 265,
"cds_end": null,
"cds_length": 728,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "ENST00000585215.5",
"protein_id": "ENSP00000463343.1",
"transcript_support_level": 4,
"aa_start": 119,
"aa_end": null,
"aa_length": 224,
"cds_start": 355,
"cds_end": null,
"cds_length": 677,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "NM_001330523.2",
"protein_id": "NP_001317452.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 217,
"cds_start": 355,
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"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "ENST00000577756.5",
"protein_id": "ENSP00000463352.1",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 217,
"cds_start": 355,
"cds_end": null,
"cds_length": 654,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "ENST00000629768.2",
"protein_id": "ENSP00000485679.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 217,
"cds_start": 355,
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"cdna_start": 469,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "ENST00000584848.5",
"protein_id": "ENSP00000463342.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 173,
"cds_start": 316,
"cds_end": null,
"cds_length": 522,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "ENST00000579698.5",
"protein_id": "ENSP00000463601.1",
"transcript_support_level": 4,
"aa_start": 119,
"aa_end": null,
"aa_length": 164,
"cds_start": 355,
"cds_end": null,
"cds_length": 495,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58Cys",
"transcript": "ENST00000577624.5",
"protein_id": "ENSP00000464098.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 131,
"cds_start": 172,
"cds_end": null,
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"cdna_start": 285,
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"cdna_length": 510,
"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.265C>T",
"hgvs_p": "p.Arg89Cys",
"transcript": "ENST00000579366.5",
"protein_id": "ENSP00000462398.1",
"transcript_support_level": 3,
"aa_start": 89,
"aa_end": null,
"aa_length": 108,
"cds_start": 265,
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"cdna_start": 618,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "XM_005256381.3",
"protein_id": "XP_005256438.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 319,
"cds_start": 355,
"cds_end": null,
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"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "XM_011523583.3",
"protein_id": "XP_011521885.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 319,
"cds_start": 355,
"cds_end": null,
"cds_length": 960,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"transcript": "XM_011523584.4",
"protein_id": "XP_011521886.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
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{
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{
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}
],
"gene_symbol": "PYCR1",
"gene_hgnc_id": 9721,
"dbsnp": "rs121918376",
"frequency_reference_population": 0.000049076065,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000411686,
"gnomad_genomes_af": 0.000124734,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8294500112533569,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.743,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8367,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.388,
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM5,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM1",
"PM5",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000329875.13",
"gene_symbol": "PYCR1",
"hgnc_id": 9721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys"
}
],
"clinvar_disease": "Autosomal recessive cutis laxa type 2B,Cutis laxa,PYCR1-related de Barsy syndrome,PYCR1-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "Autosomal recessive cutis laxa type 2B|Cutis laxa|not provided|PYCR1-related disorder|PYCR1-related de Barsy syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}