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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: 3-9934475-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9934475&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9934475,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001077415.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "NM_001077415.3",
"protein_id": "NP_001070883.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 420,
"cds_start": 37,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": "ENST00000452070.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000452070.6",
"protein_id": "ENSP00000393643.2",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 420,
"cds_start": 37,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": "NM_001077415.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000326434.9",
"protein_id": "ENSP00000321856.5",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 422,
"cds_start": 37,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 121,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000383811.8",
"protein_id": "ENSP00000373322.3",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 420,
"cds_start": 37,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.1400-360A>G",
"hgvs_p": null,
"transcript": "ENST00000683484.1",
"protein_id": "ENSP00000507040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000683835.1",
"protein_id": "ENSP00000508148.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 537,
"cds_start": 37,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000397170.8",
"protein_id": "ENSP00000380355.4",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 447,
"cds_start": 37,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000683982.1",
"protein_id": "ENSP00000507437.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 441,
"cds_start": 37,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000684601.1",
"protein_id": "ENSP00000507886.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 439,
"cds_start": 37,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "NM_001374317.1",
"protein_id": "NP_001361246.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 426,
"cds_start": 37,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "NM_001374318.1",
"protein_id": "NP_001361247.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 426,
"cds_start": 37,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000684181.1",
"protein_id": "ENSP00000507522.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 426,
"cds_start": 37,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "NM_001031717.4",
"protein_id": "NP_001026887.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 422,
"cds_start": 37,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "NM_001374316.1",
"protein_id": "NP_001361245.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 420,
"cds_start": 37,
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"cdna_start": 75,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "NM_015513.6",
"protein_id": "NP_056328.3",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 420,
"cds_start": 37,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000682783.1",
"protein_id": "ENSP00000508358.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
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"cds_start": 37,
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"cdna_start": 280,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000684493.1",
"protein_id": "ENSP00000507127.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 420,
"cds_start": 37,
"cds_end": null,
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"cdna_start": 104,
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"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000684532.1",
"protein_id": "ENSP00000508212.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 399,
"cds_start": 37,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000683189.1",
"protein_id": "ENSP00000508018.1",
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"aa_start": 13,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "NM_001374319.1",
"protein_id": "NP_001361248.1",
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"aa_start": 13,
"aa_end": null,
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"cdna_start": 143,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "NM_001374320.1",
"protein_id": "NP_001361249.1",
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"aa_start": 13,
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"cds_start": 37,
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"cdna_start": 425,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"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": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "ENST00000673935.2",
"protein_id": "ENSP00000500961.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 392,
"cds_start": 37,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 99,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val",
"transcript": "NM_001410713.1",
"protein_id": "NP_001397642.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 374,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.1850-360A>G",
"hgvs_p": null,
"transcript": "ENST00000683061.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"dbsnp": "rs279552",
"frequency_reference_population": 0.98980594,
"hom_count_reference_population": 790642,
"allele_count_reference_population": 1597529,
"gnomad_exomes_af": 0.989561,
"gnomad_genomes_af": 0.992158,
"gnomad_exomes_ac": 1446473,
"gnomad_genomes_ac": 151056,
"gnomad_exomes_homalt": 715703,
"gnomad_genomes_homalt": 74939,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.515656529401895e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.056,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.403,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001077415.3",
"gene_symbol": "CRELD1",
"hgnc_id": 14630,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.37A>G",
"hgvs_p": "p.Met13Val"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000683484.1",
"gene_symbol": "ENSG00000288550",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1400-360A>G",
"hgvs_p": null
}
],
"clinvar_disease": " 2, susceptibility to,Atrioventricular septal defect,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Atrioventricular septal defect, susceptibility to, 2|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}