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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: 7-44059402-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44059402&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44059402,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001122956.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Thr295Ser",
"transcript": "NM_001014436.3",
"protein_id": "NP_001014436.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 430,
"cds_start": 884,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000448521.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014436.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Thr295Ser",
"transcript": "ENST00000448521.6",
"protein_id": "ENSP00000411701.1",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 430,
"cds_start": 884,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001014436.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448521.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Ser",
"transcript": "ENST00000494774.5",
"protein_id": "ENSP00000419992.1",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 431,
"cds_start": 887,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494774.5"
},
{
"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": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "n.2960C>G",
"hgvs_p": null,
"transcript": "ENST00000497184.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497184.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.932C>G",
"hgvs_p": "p.Thr311Ser",
"transcript": "ENST00000967647.1",
"protein_id": "ENSP00000637706.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 446,
"cds_start": 932,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967647.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.914C>G",
"hgvs_p": "p.Thr305Ser",
"transcript": "ENST00000864279.1",
"protein_id": "ENSP00000534338.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 440,
"cds_start": 914,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864279.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.911C>G",
"hgvs_p": "p.Thr304Ser",
"transcript": "NM_001122956.2",
"protein_id": "NP_001116428.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 439,
"cds_start": 911,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122956.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.911C>G",
"hgvs_p": "p.Thr304Ser",
"transcript": "ENST00000468694.5",
"protein_id": "ENSP00000417653.1",
"transcript_support_level": 2,
"aa_start": 304,
"aa_end": null,
"aa_length": 439,
"cds_start": 911,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468694.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.908C>G",
"hgvs_p": "p.Thr303Ser",
"transcript": "NM_001362723.2",
"protein_id": "NP_001349652.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 438,
"cds_start": 908,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362723.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.908C>G",
"hgvs_p": "p.Thr303Ser",
"transcript": "ENST00000914504.1",
"protein_id": "ENSP00000584563.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 438,
"cds_start": 908,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914504.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.908C>G",
"hgvs_p": "p.Thr303Ser",
"transcript": "ENST00000914506.1",
"protein_id": "ENSP00000584565.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 438,
"cds_start": 908,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914506.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.902C>G",
"hgvs_p": "p.Thr301Ser",
"transcript": "ENST00000967650.1",
"protein_id": "ENSP00000637709.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 436,
"cds_start": 902,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967650.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.899C>G",
"hgvs_p": "p.Thr300Ser",
"transcript": "ENST00000967651.1",
"protein_id": "ENSP00000637710.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 435,
"cds_start": 899,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967651.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Ser",
"transcript": "NM_014063.7",
"protein_id": "NP_054782.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 431,
"cds_start": 887,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014063.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Thr295Ser",
"transcript": "ENST00000864284.1",
"protein_id": "ENSP00000534343.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 430,
"cds_start": 884,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864284.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Thr295Ser",
"transcript": "ENST00000864288.1",
"protein_id": "ENSP00000534347.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 430,
"cds_start": 884,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864288.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Thr294Ser",
"transcript": "ENST00000864278.1",
"protein_id": "ENSP00000534337.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 429,
"cds_start": 881,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864278.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Thr294Ser",
"transcript": "ENST00000864283.1",
"protein_id": "ENSP00000534342.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 429,
"cds_start": 881,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864283.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Ser",
"transcript": "ENST00000967642.1",
"protein_id": "ENSP00000637701.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 429,
"cds_start": 887,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967642.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Thr294Ser",
"transcript": "ENST00000967643.1",
"protein_id": "ENSP00000637702.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 429,
"cds_start": 881,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967643.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Thr295Ser",
"transcript": "ENST00000864285.1",
"protein_id": "ENSP00000534344.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 428,
"cds_start": 884,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864285.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Thr296Ser",
"transcript": "ENST00000864287.1",
"protein_id": "ENSP00000534346.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 428,
"cds_start": 887,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864287.1"
},
{
"aa_ref": "T",
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "DBNL",
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"transcript": "ENST00000498733.5",
"protein_id": "ENSP00000418978.1",
"transcript_support_level": 2,
"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,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000498733.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
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"hgvs_c": "n.*510C>G",
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"transcript": "ENST00000411855.5",
"protein_id": "ENSP00000390397.1",
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000411855.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
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"hgvs_c": "n.*507C>G",
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"transcript": "ENST00000429716.5",
"protein_id": "ENSP00000400817.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000429716.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
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"hgvs_c": "n.*547C>G",
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"transcript": "ENST00000441840.7",
"protein_id": "ENSP00000392113.2",
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"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": "nonsense_mediated_decay",
"feature": "ENST00000441840.7"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "n.*670C>G",
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"transcript": "ENST00000441904.5",
"protein_id": "ENSP00000415395.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000441904.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"hgvs_c": "n.*786C>G",
"hgvs_p": null,
"transcript": "ENST00000498733.5",
"protein_id": "ENSP00000418978.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000498733.5"
}
],
"gene_symbol": "DBNL",
"gene_hgnc_id": 2696,
"dbsnp": "rs546933785",
"frequency_reference_population": 0.000010261223,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000102612,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.037254154682159424,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.0752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.014,
"phylop100way_prediction": "Benign",
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001122956.2",
"gene_symbol": "DBNL",
"hgnc_id": 2696,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.911C>G",
"hgvs_p": "p.Thr304Ser"
}
],
"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
}