← 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: 2-154245967-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=154245967&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 154245967,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001376403.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_052917.4",
"protein_id": "NP_443149.2",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": "ENST00000392825.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052917.4"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000392825.8",
"protein_id": "ENSP00000376570.3",
"transcript_support_level": 2,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": "NM_052917.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392825.8"
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000409237.5",
"protein_id": "ENSP00000387239.1",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 561,
"cds_start": 842,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409237.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "n.*662G>T",
"hgvs_p": null,
"transcript": "ENST00000431076.5",
"protein_id": "ENSP00000389447.1",
"transcript_support_level": 1,
"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": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431076.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "n.*662G>T",
"hgvs_p": null,
"transcript": "ENST00000431076.5",
"protein_id": "ENSP00000389447.1",
"transcript_support_level": 1,
"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": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431076.5"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001376403.1",
"protein_id": "NP_001363332.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 571,
"cds_start": 842,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 5926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376403.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001376404.1",
"protein_id": "NP_001363333.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 571,
"cds_start": 842,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 6053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376404.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001422879.1",
"protein_id": "NP_001409808.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 571,
"cds_start": 842,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 8281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001422879.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.887G>T",
"hgvs_p": "p.Arg296Ile",
"transcript": "ENST00000891929.1",
"protein_id": "ENSP00000561988.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 571,
"cds_start": 887,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891929.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.887G>T",
"hgvs_p": "p.Arg296Ile",
"transcript": "ENST00000891932.1",
"protein_id": "ENSP00000561991.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 571,
"cds_start": 887,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891932.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000952436.1",
"protein_id": "ENSP00000622495.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 565,
"cds_start": 842,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952436.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001301627.2",
"protein_id": "NP_001288556.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 561,
"cds_start": 842,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 6023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301627.2"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001376392.1",
"protein_id": "NP_001363321.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376392.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001376394.1",
"protein_id": "NP_001363323.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 6065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376394.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001376398.1",
"protein_id": "NP_001363327.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 6155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376398.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001376400.1",
"protein_id": "NP_001363329.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 6971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376400.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001376401.1",
"protein_id": "NP_001363330.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 2697,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376401.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001376402.1",
"protein_id": "NP_001363331.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 2733,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376402.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001422880.1",
"protein_id": "NP_001409809.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 8083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001422880.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001422881.1",
"protein_id": "NP_001409810.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 8295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001422881.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001422882.1",
"protein_id": "NP_001409811.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 8631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001422882.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000891928.1",
"protein_id": "ENSP00000561987.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891928.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000891930.1",
"protein_id": "ENSP00000561989.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891930.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000891931.1",
"protein_id": "ENSP00000561990.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891931.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000891933.1",
"protein_id": "ENSP00000561992.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891933.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000891934.1",
"protein_id": "ENSP00000561993.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891934.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000934813.1",
"protein_id": "ENSP00000604872.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 7970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934813.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000934816.1",
"protein_id": "ENSP00000604875.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 5813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934816.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000934817.1",
"protein_id": "ENSP00000604876.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 556,
"cds_start": 842,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934817.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000934814.1",
"protein_id": "ENSP00000604873.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 543,
"cds_start": 842,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 5654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934814.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000934815.1",
"protein_id": "ENSP00000604874.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 543,
"cds_start": 842,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 5489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934815.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "NM_001376405.1",
"protein_id": "NP_001363334.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 470,
"cds_start": 842,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376405.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "ENST00000934818.1",
"protein_id": "ENSP00000604877.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 457,
"cds_start": 842,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934818.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.299G>T",
"hgvs_p": "p.Arg100Ile",
"transcript": "NM_001422883.1",
"protein_id": "NP_001409812.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 375,
"cds_start": 299,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 8564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001422883.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile",
"transcript": "XM_047443116.1",
"protein_id": "XP_047299072.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 571,
"cds_start": 842,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443116.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.299G>T",
"hgvs_p": "p.Arg100Ile",
"transcript": "XM_011510538.3",
"protein_id": "XP_011508840.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 390,
"cds_start": 299,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510538.3"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "c.299G>T",
"hgvs_p": "p.Arg100Ile",
"transcript": "XM_047443121.1",
"protein_id": "XP_047299077.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 390,
"cds_start": 299,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443121.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"hgvs_c": "n.1400G>T",
"hgvs_p": null,
"transcript": "XR_007069045.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007069045.1"
}
],
"gene_symbol": "GALNT13",
"gene_hgnc_id": 23242,
"dbsnp": "rs754236942",
"frequency_reference_population": 0.000003424395,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342439,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7198199033737183,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.343,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9777,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 10.003,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001376403.1",
"gene_symbol": "GALNT13",
"hgnc_id": 23242,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.842G>T",
"hgvs_p": "p.Arg281Ile"
}
],
"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
}