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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: 19-17762799-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17762799&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17762799,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015122.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "NM_015122.3",
"protein_id": "NP_055937.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": "ENST00000596536.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000596536.6",
"protein_id": "ENSP00000470731.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": "NM_015122.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699212.1",
"protein_id": "ENSP00000514208.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 930,
"cds_start": 65,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000594202.6",
"protein_id": "ENSP00000473001.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 891,
"cds_start": 65,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000596309.6",
"protein_id": "ENSP00000470511.2",
"transcript_support_level": 4,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000596951.6",
"protein_id": "ENSP00000472417.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000600209.6",
"protein_id": "ENSP00000469075.2",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000600676.5",
"protein_id": "ENSP00000470493.1",
"transcript_support_level": 2,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699176.1",
"protein_id": "ENSP00000514179.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699177.1",
"protein_id": "ENSP00000514180.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699207.1",
"protein_id": "ENSP00000514204.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699209.1",
"protein_id": "ENSP00000514206.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699215.1",
"protein_id": "ENSP00000514211.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 889,
"cds_start": 65,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699202.1",
"protein_id": "ENSP00000514200.1",
"transcript_support_level": null,
"aa_start": 22,
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"cdna_start": 318,
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"feature": null
},
{
"aa_ref": "S",
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699214.1",
"protein_id": "ENSP00000514210.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 876,
"cds_start": 65,
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"cdna_start": 418,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699208.1",
"protein_id": "ENSP00000514205.1",
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"aa_start": 22,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699198.1",
"protein_id": "ENSP00000514196.1",
"transcript_support_level": null,
"aa_start": 22,
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"aa_length": 850,
"cds_start": 65,
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"cdna_start": 322,
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"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699199.1",
"protein_id": "ENSP00000514197.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 850,
"cds_start": 65,
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"cdna_start": 232,
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"cdna_length": 2903,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699213.1",
"protein_id": "ENSP00000514209.1",
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},
{
"aa_ref": "S",
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699197.1",
"protein_id": "ENSP00000514195.1",
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"aa_start": 22,
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"feature": null
},
{
"aa_ref": "S",
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699200.1",
"protein_id": "ENSP00000514198.1",
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"aa_start": 22,
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"cds_start": 65,
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"cdna_start": 423,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn",
"transcript": "ENST00000699196.1",
"protein_id": "ENSP00000514194.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 778,
"cds_start": 65,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "n.97G>A",
"hgvs_p": null,
"transcript": "ENST00000597512.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
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},
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},
{
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},
{
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},
{
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],
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},
{
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],
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"gene_symbol": "FCHO1",
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"hgvs_c": "n.*19G>A",
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"transcript": "ENST00000593385.5",
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"feature": null
}
],
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"dbsnp": "rs1323439763",
"frequency_reference_population": 6.840759e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84076e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07577124238014221,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.1535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.649,
"phylop100way_prediction": "Uncertain_significance",
"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,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015122.3",
"gene_symbol": "FCHO1",
"hgnc_id": 29002,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Ser22Asn"
}
],
"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
}