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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: 19-41709719-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41709719&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41709719,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004363.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "NM_004363.6",
"protein_id": "NP_004354.3",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 702,
"cds_start": 104,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221992.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004363.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000221992.11",
"protein_id": "ENSP00000221992.5",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 702,
"cds_start": 104,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004363.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221992.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000405816.5",
"protein_id": "ENSP00000385072.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 702,
"cds_start": 104,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405816.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000617332.4",
"protein_id": "ENSP00000482303.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 702,
"cds_start": 104,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617332.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000615021.4",
"protein_id": "ENSP00000482157.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 524,
"cds_start": 104,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615021.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267881",
"gene_hgnc_id": null,
"hgvs_c": "c.64+924A>G",
"hgvs_p": null,
"transcript": "ENST00000435837.2",
"protein_id": "ENSP00000469926.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435837.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "n.210A>G",
"hgvs_p": null,
"transcript": "ENST00000596606.1",
"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": "ENST00000596606.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000888534.1",
"protein_id": "ENSP00000558593.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 718,
"cds_start": 104,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888534.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000888526.1",
"protein_id": "ENSP00000558585.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 715,
"cds_start": 104,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888526.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "NM_001291484.3",
"protein_id": "NP_001278413.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 702,
"cds_start": 104,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291484.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "NM_001308398.3",
"protein_id": "NP_001295327.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 701,
"cds_start": 104,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308398.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "NM_001440320.1",
"protein_id": "NP_001427249.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 701,
"cds_start": 104,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440320.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000398599.8",
"protein_id": "ENSP00000381600.4",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 701,
"cds_start": 104,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398599.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000888517.1",
"protein_id": "ENSP00000558576.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 701,
"cds_start": 104,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888517.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000888519.1",
"protein_id": "ENSP00000558578.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 701,
"cds_start": 104,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888519.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000948423.1",
"protein_id": "ENSP00000618482.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 701,
"cds_start": 104,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948423.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000888532.1",
"protein_id": "ENSP00000558591.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 699,
"cds_start": 104,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888532.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000888515.1",
"protein_id": "ENSP00000558574.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 698,
"cds_start": 104,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888515.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000888514.1",
"protein_id": "ENSP00000558573.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 691,
"cds_start": 104,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888514.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000888512.1",
"protein_id": "ENSP00000558571.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 685,
"cds_start": 104,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888512.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000888525.1",
"protein_id": "ENSP00000558584.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 685,
"cds_start": 104,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888525.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM5",
"gene_hgnc_id": 1817,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000888531.1",
"protein_id": "ENSP00000558590.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 684,
"cds_start": 104,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "CEACAM5",
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"feature": "ENST00000948421.1"
},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "CEACAM5",
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"transcript": "ENST00000948424.1",
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"biotype": "protein_coding",
"feature": "ENST00000948424.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 6,
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"gene_symbol": "CEACAM5",
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"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000948426.1",
"protein_id": "ENSP00000618485.1",
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"biotype": "protein_coding",
"feature": "ENST00000948426.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 2,
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"gene_symbol": "CEACAM5",
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"hgvs_c": "c.2A>G",
"hgvs_p": "p.Lys1Arg",
"transcript": "ENST00000595403.1",
"protein_id": "ENSP00000468997.1",
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"biotype": "protein_coding",
"feature": "ENST00000595403.1"
},
{
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"strand": true,
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"missense_variant"
],
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"gene_symbol": "CEACAM5",
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"biotype": "protein_coding",
"feature": "XM_011526322.3"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "CEACAM5",
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"transcript": "ENST00000460121.1",
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"biotype": "retained_intron",
"feature": "ENST00000460121.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "CEACAM5",
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"hgvs_c": "c.-197A>G",
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"transcript": "ENST00000595113.1",
"protein_id": "ENSP00000473252.1",
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"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595113.1"
}
],
"gene_symbol": "CEACAM5",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08728507161140442,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.0763,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.798,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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_004363.6",
"gene_symbol": "CEACAM5",
"hgnc_id": 1817,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000435837.2",
"gene_symbol": "ENSG00000267881",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.64+924A>G",
"hgvs_p": null
}
],
"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
}