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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: 12-106323554-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=106323554&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 106323554,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152772.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "NM_152772.3",
"protein_id": "NP_689985.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299045.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152772.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "ENST00000299045.8",
"protein_id": "ENSP00000299045.3",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152772.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299045.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "ENST00000546625.5",
"protein_id": "ENSP00000449123.1",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 272,
"cds_start": 680,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546625.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "ENST00000718461.1",
"protein_id": "ENSP00000520839.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718461.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "ENST00000910255.1",
"protein_id": "ENSP00000580314.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910255.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "ENST00000910256.1",
"protein_id": "ENSP00000580315.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910256.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "NM_001286262.2",
"protein_id": "NP_001273191.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 266,
"cds_start": 680,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286262.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "ENST00000547153.5",
"protein_id": "ENSP00000448952.1",
"transcript_support_level": 2,
"aa_start": 227,
"aa_end": null,
"aa_length": 266,
"cds_start": 680,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547153.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "ENST00000553098.5",
"protein_id": "ENSP00000448629.1",
"transcript_support_level": 5,
"aa_start": 227,
"aa_end": null,
"aa_length": 233,
"cds_start": 680,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553098.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_005268767.6",
"protein_id": "XP_005268824.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268767.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_005268768.5",
"protein_id": "XP_005268825.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268768.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_011538129.4",
"protein_id": "XP_011536431.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538129.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_011538130.3",
"protein_id": "XP_011536432.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538130.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_017019127.3",
"protein_id": "XP_016874616.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019127.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_017019129.3",
"protein_id": "XP_016874618.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019129.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_017019130.3",
"protein_id": "XP_016874619.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019130.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_017019131.2",
"protein_id": "XP_016874620.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019131.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_047428666.1",
"protein_id": "XP_047284622.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428666.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_047428667.1",
"protein_id": "XP_047284623.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 519,
"cds_start": 680,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428667.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "XM_017019133.3",
"protein_id": "XP_016874622.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 454,
"cds_start": 485,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019133.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.485A>G",
"hgvs_p": "p.Asn162Ser",
"transcript": "XM_047428668.1",
"protein_id": "XP_047284624.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 454,
"cds_start": 485,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428668.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_011538132.4",
"protein_id": "XP_011536434.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 322,
"cds_start": 680,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538132.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "TCP11L2",
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"transcript": "XM_047428669.1",
"protein_id": "XP_047284625.1",
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"aa_start": 227,
"aa_end": null,
"aa_length": 266,
"cds_start": 680,
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"cds_length": 801,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428669.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
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"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_047428670.1",
"protein_id": "XP_047284626.1",
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"aa_start": 227,
"aa_end": null,
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"cds_start": 680,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428670.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
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"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_047428671.1",
"protein_id": "XP_047284627.1",
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"aa_start": 227,
"aa_end": null,
"aa_length": 266,
"cds_start": 680,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428671.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_047428672.1",
"protein_id": "XP_047284628.1",
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"aa_start": 227,
"aa_end": null,
"aa_length": 266,
"cds_start": 680,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428672.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser",
"transcript": "XM_047428673.1",
"protein_id": "XP_047284629.1",
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"aa_start": 227,
"aa_end": null,
"aa_length": 266,
"cds_start": 680,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"hgvs_c": "n.178A>G",
"hgvs_p": null,
"transcript": "ENST00000552690.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000552690.1"
}
],
"gene_symbol": "TCP11L2",
"gene_hgnc_id": 28627,
"dbsnp": "rs369338544",
"frequency_reference_population": 0.000006214569,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000274542,
"gnomad_genomes_af": 0.0000394353,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8226732015609741,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.556,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.873,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152772.3",
"gene_symbol": "TCP11L2",
"hgnc_id": 28627,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Asn227Ser"
}
],
"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
}