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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: 7-92213232-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92213232&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92213232,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004912.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_194454.3",
"protein_id": "NP_919436.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2533,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "ENST00000394505.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194454.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "ENST00000394505.7",
"protein_id": "ENSP00000378013.2",
"transcript_support_level": 1,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2533,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "NM_194454.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394505.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289027",
"gene_hgnc_id": null,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "ENST00000692281.1",
"protein_id": "ENSP00000510568.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 1120,
"cds_start": 1988,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 2506,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692281.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "ENST00000458493.6",
"protein_id": "ENSP00000396352.2",
"transcript_support_level": 4,
"aa_start": 663,
"aa_end": null,
"aa_length": 896,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458493.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "ENST00000340022.6",
"protein_id": "ENSP00000344668.2",
"transcript_support_level": 1,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340022.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "ENST00000412043.6",
"protein_id": "ENSP00000410909.2",
"transcript_support_level": 1,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2777,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412043.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "ENST00000458177.7",
"protein_id": "ENSP00000391675.2",
"transcript_support_level": 1,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2669,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458177.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "n.2434A>G",
"hgvs_p": null,
"transcript": "ENST00000475770.6",
"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": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475770.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "n.2511A>G",
"hgvs_p": null,
"transcript": "ENST00000486261.5",
"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": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486261.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "ENST00000650585.2",
"protein_id": "ENSP00000498010.2",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 799,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2490,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650585.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "ENST00000691972.1",
"protein_id": "ENSP00000510591.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 799,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2748,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691972.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350672.1",
"protein_id": "NP_001337601.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350672.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350673.1",
"protein_id": "NP_001337602.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2455,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350673.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350674.1",
"protein_id": "NP_001337603.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2684,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350674.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350675.1",
"protein_id": "NP_001337604.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2603,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350675.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350676.1",
"protein_id": "NP_001337605.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2566,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350676.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350677.1",
"protein_id": "NP_001337606.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350677.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350678.1",
"protein_id": "NP_001337607.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2435,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350678.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350679.1",
"protein_id": "NP_001337608.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350679.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350680.1",
"protein_id": "NP_001337609.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350680.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350681.1",
"protein_id": "NP_001337610.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2932,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350681.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser",
"transcript": "NM_001350682.1",
"protein_id": "NP_001337611.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 736,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2894,
"cdna_end": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
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},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
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"hgvs_c": "n.*1495A>G",
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"transcript": "ENST00000692690.1",
"protein_id": "ENSP00000509642.1",
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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": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000692690.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
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"hgvs_c": "n.*1251A>G",
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"transcript": "ENST00000693563.1",
"protein_id": "ENSP00000510120.1",
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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": 3273,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693563.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
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"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "n.*127+8670A>G",
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"transcript": "ENST00000433016.6",
"protein_id": "ENSP00000410104.2",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000433016.6"
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],
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"dbsnp": "rs202120786",
"frequency_reference_population": 0.00006632738,
"hom_count_reference_population": 1,
"allele_count_reference_population": 107,
"gnomad_exomes_af": 0.0000670757,
"gnomad_genomes_af": 0.0000591428,
"gnomad_exomes_ac": 98,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2943117618560791,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2977,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.271,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BS1,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004912.4",
"gene_symbol": "KRIT1",
"hgnc_id": 1573,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000458493.6",
"gene_symbol": "ENSG00000285953",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000692281.1",
"gene_symbol": "ENSG00000289027",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Asn663Ser"
}
],
"clinvar_disease": "Cerebral cavernous malformation,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|not specified|Cerebral cavernous malformation",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}