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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: 12-122340975-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122340975&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122340975,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001389291.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2229G>C",
"hgvs_p": "p.Lys743Asn",
"transcript": "NM_001247997.2",
"protein_id": "NP_001234926.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1438,
"cds_start": 2229,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620786.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001247997.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2229G>C",
"hgvs_p": "p.Lys743Asn",
"transcript": "ENST00000620786.5",
"protein_id": "ENSP00000479322.1",
"transcript_support_level": 5,
"aa_start": 743,
"aa_end": null,
"aa_length": 1438,
"cds_start": 2229,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001247997.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620786.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2196G>C",
"hgvs_p": "p.Lys732Asn",
"transcript": "ENST00000358808.6",
"protein_id": "ENSP00000351665.2",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2196,
"cds_end": null,
"cds_length": 4284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358808.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Lys697Asn",
"transcript": "ENST00000537178.5",
"protein_id": "ENSP00000445531.1",
"transcript_support_level": 1,
"aa_start": 697,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2091,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537178.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Lys697Asn",
"transcript": "NM_001389291.1",
"protein_id": "NP_001376220.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 2148,
"cds_start": 2091,
"cds_end": null,
"cds_length": 6447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389291.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2229G>C",
"hgvs_p": "p.Lys743Asn",
"transcript": "ENST00000971572.1",
"protein_id": "ENSP00000641631.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1438,
"cds_start": 2229,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971572.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2229G>C",
"hgvs_p": "p.Lys743Asn",
"transcript": "ENST00000971573.1",
"protein_id": "ENSP00000641632.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1438,
"cds_start": 2229,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971573.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2229G>C",
"hgvs_p": "p.Lys743Asn",
"transcript": "ENST00000971577.1",
"protein_id": "ENSP00000641636.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1438,
"cds_start": 2229,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971577.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2196G>C",
"hgvs_p": "p.Lys732Asn",
"transcript": "NM_002956.3",
"protein_id": "NP_002947.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2196,
"cds_end": null,
"cds_length": 4284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002956.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2196G>C",
"hgvs_p": "p.Lys732Asn",
"transcript": "ENST00000302528.11",
"protein_id": "ENSP00000303585.7",
"transcript_support_level": 5,
"aa_start": 732,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2196,
"cds_end": null,
"cds_length": 4284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302528.11"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2196G>C",
"hgvs_p": "p.Lys732Asn",
"transcript": "ENST00000859891.1",
"protein_id": "ENSP00000529950.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2196,
"cds_end": null,
"cds_length": 4284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859891.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2196G>C",
"hgvs_p": "p.Lys732Asn",
"transcript": "ENST00000971576.1",
"protein_id": "ENSP00000641635.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2196,
"cds_end": null,
"cds_length": 4284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971576.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2124G>C",
"hgvs_p": "p.Lys708Asn",
"transcript": "ENST00000859888.1",
"protein_id": "ENSP00000529947.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 1403,
"cds_start": 2124,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859888.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2124G>C",
"hgvs_p": "p.Lys708Asn",
"transcript": "ENST00000971569.1",
"protein_id": "ENSP00000641628.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 1403,
"cds_start": 2124,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971569.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Lys697Asn",
"transcript": "NM_198240.3",
"protein_id": "NP_937883.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2091,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198240.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Lys697Asn",
"transcript": "ENST00000859889.1",
"protein_id": "ENSP00000529948.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2091,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859889.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Lys697Asn",
"transcript": "ENST00000859892.1",
"protein_id": "ENSP00000529951.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2091,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859892.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Lys697Asn",
"transcript": "ENST00000971570.1",
"protein_id": "ENSP00000641629.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2091,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971570.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Lys697Asn",
"transcript": "ENST00000971574.1",
"protein_id": "ENSP00000641633.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2091,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971574.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Lys697Asn",
"transcript": "ENST00000971578.1",
"protein_id": "ENSP00000641637.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2091,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971578.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.2031G>C",
"hgvs_p": "p.Lys677Asn",
"transcript": "ENST00000971571.1",
"protein_id": "ENSP00000641630.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 1372,
"cds_start": 2031,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971571.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.282G>C",
"hgvs_p": "p.Lys94Asn",
"transcript": "ENST00000648993.1",
"protein_id": "ENSP00000497665.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
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"hgvs_c": "c.1443+6G>C",
"hgvs_p": null,
"transcript": "ENST00000545889.6",
"protein_id": "ENSP00000438743.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1063,
"cds_start": null,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545889.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.1992+6G>C",
"hgvs_p": null,
"transcript": "ENST00000540304.6",
"protein_id": "ENSP00000437786.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": null,
"cds_end": null,
"cds_length": 2408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540304.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "c.783-12549G>C",
"hgvs_p": null,
"transcript": "ENST00000971575.1",
"protein_id": "ENSP00000641634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": null,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "n.3070G>C",
"hgvs_p": null,
"transcript": "ENST00000514271.2",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000514271.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "CLIP1",
"gene_hgnc_id": 10461,
"hgvs_c": "n.*113G>C",
"hgvs_p": null,
"transcript": "ENST00000541410.1",
"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": "retained_intron",
"feature": "ENST00000541410.1"
}
],
"gene_symbol": "CLIP1",
"gene_hgnc_id": 10461,
"dbsnp": "rs757189888",
"frequency_reference_population": 0.000010532368,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000109448,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23582950234413147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.3318,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.35,
"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": 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_001389291.1",
"gene_symbol": "CLIP1",
"hgnc_id": 10461,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Lys697Asn"
}
],
"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
}