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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: 1-42748232-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42748232&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42748232,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001243246.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1806A>C",
"hgvs_p": "p.Lys602Asn",
"transcript": "NM_022356.4",
"protein_id": "NP_071751.3",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 736,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": "ENST00000296388.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022356.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1806A>C",
"hgvs_p": "p.Lys602Asn",
"transcript": "ENST00000296388.10",
"protein_id": "ENSP00000296388.5",
"transcript_support_level": 1,
"aa_start": 602,
"aa_end": null,
"aa_length": 736,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": "NM_022356.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296388.10"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1806A>C",
"hgvs_p": "p.Lys602Asn",
"transcript": "ENST00000397054.7",
"protein_id": "ENSP00000380245.3",
"transcript_support_level": 1,
"aa_start": 602,
"aa_end": null,
"aa_length": 697,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397054.7"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.2130A>C",
"hgvs_p": "p.Lys710Asn",
"transcript": "ENST00000907902.1",
"protein_id": "ENSP00000577961.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 844,
"cds_start": 2130,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907902.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1806A>C",
"hgvs_p": "p.Lys602Asn",
"transcript": "NM_001243246.2",
"protein_id": "NP_001230175.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 804,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243246.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1806A>C",
"hgvs_p": "p.Lys602Asn",
"transcript": "ENST00000236040.8",
"protein_id": "ENSP00000236040.4",
"transcript_support_level": 2,
"aa_start": 602,
"aa_end": null,
"aa_length": 804,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236040.8"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1806A>C",
"hgvs_p": "p.Lys602Asn",
"transcript": "ENST00000907901.1",
"protein_id": "ENSP00000577960.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 803,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907901.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1776A>C",
"hgvs_p": "p.Lys592Asn",
"transcript": "ENST00000964923.1",
"protein_id": "ENSP00000634982.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 793,
"cds_start": 1776,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964923.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1806A>C",
"hgvs_p": "p.Lys602Asn",
"transcript": "ENST00000928449.1",
"protein_id": "ENSP00000598508.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 770,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928449.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1866A>C",
"hgvs_p": "p.Lys622Asn",
"transcript": "ENST00000907903.1",
"protein_id": "ENSP00000577962.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 756,
"cds_start": 1866,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907903.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1653A>C",
"hgvs_p": "p.Lys551Asn",
"transcript": "ENST00000928451.1",
"protein_id": "ENSP00000598510.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 752,
"cds_start": 1653,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928451.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1791A>C",
"hgvs_p": "p.Lys597Asn",
"transcript": "ENST00000928450.1",
"protein_id": "ENSP00000598509.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 731,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928450.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1776A>C",
"hgvs_p": "p.Lys592Asn",
"transcript": "ENST00000928452.1",
"protein_id": "ENSP00000598511.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 726,
"cds_start": 1776,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928452.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1716A>C",
"hgvs_p": "p.Lys572Asn",
"transcript": "ENST00000907904.1",
"protein_id": "ENSP00000577963.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 706,
"cds_start": 1716,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907904.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1806A>C",
"hgvs_p": "p.Lys602Asn",
"transcript": "NM_001146289.2",
"protein_id": "NP_001139761.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 697,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146289.2"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1653A>C",
"hgvs_p": "p.Lys551Asn",
"transcript": "ENST00000907905.1",
"protein_id": "ENSP00000577964.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 685,
"cds_start": 1653,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907905.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1806A>C",
"hgvs_p": "p.Lys602Asn",
"transcript": "XM_047427616.1",
"protein_id": "XP_047283572.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 803,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427616.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.831A>C",
"hgvs_p": "p.Lys277Asn",
"transcript": "XM_047427621.1",
"protein_id": "XP_047283577.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 478,
"cds_start": 831,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427621.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.828A>C",
"hgvs_p": "p.Lys276Asn",
"transcript": "XM_047427626.1",
"protein_id": "XP_047283582.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 477,
"cds_start": 828,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427626.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Lys233Asn",
"transcript": "XM_047427629.1",
"protein_id": "XP_047283585.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 434,
"cds_start": 699,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.*61A>C",
"hgvs_p": null,
"transcript": "ENST00000431412.3",
"protein_id": "ENSP00000408056.1",
"transcript_support_level": 5,
"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": 836,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431412.3"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.1998A>C",
"hgvs_p": null,
"transcript": "ENST00000460031.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460031.5"
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{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "P3H1",
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"hgvs_c": "n.512A>C",
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"transcript": "ENST00000460831.1",
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"transcript_support_level": 2,
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"biotype": "retained_intron",
"feature": "ENST00000460831.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.2086A>C",
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"transcript": "ENST00000495874.5",
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"transcript_support_level": 2,
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"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2813,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495874.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.*61A>C",
"hgvs_p": null,
"transcript": "ENST00000431412.3",
"protein_id": "ENSP00000408056.1",
"transcript_support_level": 5,
"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": 836,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431412.3"
}
],
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"dbsnp": "rs144336336",
"frequency_reference_population": 0.0008401893,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1356,
"gnomad_exomes_af": 0.000859955,
"gnomad_genomes_af": 0.000650383,
"gnomad_exomes_ac": 1257,
"gnomad_genomes_ac": 99,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27205580472946167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.376,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9492,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.782,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001243246.2",
"gene_symbol": "P3H1",
"hgnc_id": 19316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1806A>C",
"hgvs_p": "p.Lys602Asn"
}
],
"clinvar_disease": " Recessive,Osteogenesis Imperfecta,Osteogenesis imperfecta type 8,P3H1-related disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:8",
"phenotype_combined": "Osteogenesis Imperfecta, Recessive|not provided|P3H1-related disorder|Osteogenesis imperfecta type 8",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}