← Back to variant description
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: 6-31663869-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31663869&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31663869,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_033177.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "NM_033177.4",
"protein_id": "NP_149417.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": "ENST00000375896.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033177.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000375896.9",
"protein_id": "ENSP00000365060.4",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": "NM_033177.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375896.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "NM_001199237.1",
"protein_id": "NP_001186166.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199237.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "NM_001199238.1",
"protein_id": "NP_001186167.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199238.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "NM_001199239.1",
"protein_id": "NP_001186168.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199239.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "NM_001199240.1",
"protein_id": "NP_001186169.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199240.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000375893.6",
"protein_id": "ENSP00000365057.2",
"transcript_support_level": 5,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375893.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000375895.6",
"protein_id": "ENSP00000365059.2",
"transcript_support_level": 5,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375895.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000375900.8",
"protein_id": "ENSP00000365065.4",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375900.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000375906.5",
"protein_id": "ENSP00000365071.1",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375906.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000908857.1",
"protein_id": "ENSP00000578916.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908857.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000908858.1",
"protein_id": "ENSP00000578917.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908858.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000908859.1",
"protein_id": "ENSP00000578918.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908859.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000908860.1",
"protein_id": "ENSP00000578919.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908860.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000908861.1",
"protein_id": "ENSP00000578920.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908861.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000921266.1",
"protein_id": "ENSP00000591325.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921266.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000921267.1",
"protein_id": "ENSP00000591326.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921267.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000921268.1",
"protein_id": "ENSP00000591327.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921268.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000921269.1",
"protein_id": "ENSP00000591328.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921269.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000921270.1",
"protein_id": "ENSP00000591329.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921270.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000921271.1",
"protein_id": "ENSP00000591330.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921271.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000921272.1",
"protein_id": "ENSP00000591331.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921272.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000921273.1",
"protein_id": "ENSP00000591332.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921273.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000921274.1",
"protein_id": "ENSP00000591333.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921274.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "ENST00000948314.1",
"protein_id": "ENSP00000618373.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948314.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "XM_005249403.4",
"protein_id": "XP_005249460.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249403.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "XM_006715204.2",
"protein_id": "XP_006715267.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715204.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "XM_011514909.2",
"protein_id": "XP_011513211.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514909.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "XM_011514910.2",
"protein_id": "XP_011513212.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514910.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "XM_024446549.2",
"protein_id": "XP_024302317.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446549.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "XM_047419350.1",
"protein_id": "XP_047275306.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419350.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly",
"transcript": "XM_047419351.1",
"protein_id": "XP_047275307.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 356,
"cds_start": 610,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419351.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.*116A>G",
"hgvs_p": null,
"transcript": "ENST00000458083.5",
"protein_id": "ENSP00000395307.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458083.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"hgvs_c": "c.*154A>G",
"hgvs_p": null,
"transcript": "ENST00000445768.5",
"protein_id": "ENSP00000409349.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445768.5"
}
],
"gene_symbol": "GPANK1",
"gene_hgnc_id": 13920,
"dbsnp": "rs1014004586",
"frequency_reference_population": 0.000013138705,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131387,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08535629510879517,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.0742,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.476,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033177.4",
"gene_symbol": "GPANK1",
"hgnc_id": 13920,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Arg204Gly"
}
],
"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
}