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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: 7-72929969-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=72929969&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 72929969,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001387691.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.1133C>G",
"hgvs_p": "p.Ser378Cys",
"transcript": "NM_001387691.1",
"protein_id": "NP_001374620.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1249,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000434423.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387691.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.1133C>G",
"hgvs_p": "p.Ser378Cys",
"transcript": "ENST00000434423.5",
"protein_id": "ENSP00000405562.2",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 1249,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387691.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434423.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "ENST00000395270.5",
"protein_id": "ENSP00000378687.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 999,
"cds_start": 338,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395270.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.1133C>G",
"hgvs_p": "p.Ser378Cys",
"transcript": "NM_001387692.1",
"protein_id": "NP_001374621.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387692.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.1133C>G",
"hgvs_p": "p.Ser378Cys",
"transcript": "ENST00000897647.1",
"protein_id": "ENSP00000567706.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897647.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.1133C>G",
"hgvs_p": "p.Ser378Cys",
"transcript": "NM_001387693.1",
"protein_id": "NP_001374622.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1153,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387693.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.1133C>G",
"hgvs_p": "p.Ser378Cys",
"transcript": "ENST00000897648.1",
"protein_id": "ENSP00000567707.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 1153,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897648.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001257190.3",
"protein_id": "NP_001244119.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 999,
"cds_start": 338,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257190.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387694.1",
"protein_id": "NP_001374623.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 990,
"cds_start": 338,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387694.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387685.1",
"protein_id": "NP_001374614.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387685.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387686.1",
"protein_id": "NP_001374615.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387686.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387687.1",
"protein_id": "NP_001374616.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387687.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387688.1",
"protein_id": "NP_001374617.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387688.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387689.1",
"protein_id": "NP_001374618.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387689.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387695.1",
"protein_id": "NP_001374624.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387695.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387696.1",
"protein_id": "NP_001374625.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387696.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387697.1",
"protein_id": "NP_001374626.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387697.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387698.1",
"protein_id": "NP_001374627.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387698.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387699.1",
"protein_id": "NP_001374628.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387699.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_001387700.1",
"protein_id": "NP_001374629.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387700.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "NM_172020.5",
"protein_id": "NP_742017.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172020.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ser113Cys",
"transcript": "ENST00000627934.3",
"protein_id": "ENSP00000486504.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 984,
"cds_start": 338,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627934.3"
},
{
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{
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},
{
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"gene_symbol": "POM121",
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},
{
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"gene_symbol": "POM121",
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},
{
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],
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"gene_symbol": "POM121",
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{
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"gene_symbol": "POM121",
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"biotype": "protein_coding",
"feature": "NM_001387705.1"
},
{
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"strand": true,
"consequences": [
"missense_variant"
],
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"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"hgvs_c": "c.1133C>G",
"hgvs_p": "p.Ser378Cys",
"transcript": "XM_047421094.1",
"protein_id": "XP_047277050.1",
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"aa_start": 378,
"aa_end": null,
"aa_length": 1094,
"cds_start": 1133,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047421094.1"
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],
"gene_symbol": "POM121",
"gene_hgnc_id": 19702,
"dbsnp": "rs547650712",
"frequency_reference_population": 0.000010544807,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000479466,
"gnomad_genomes_af": 0.0000656987,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19758713245391846,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.123,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.976,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001387691.1",
"gene_symbol": "POM121",
"hgnc_id": 19702,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1133C>G",
"hgvs_p": "p.Ser378Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}