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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: 7-75972438-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=75972438&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 75972438,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000461988.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "NM_001395413.1",
"protein_id": "NP_001382342.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 677,
"cds_start": 205,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "ENST00000461988.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "ENST00000461988.6",
"protein_id": "ENSP00000419970.2",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 677,
"cds_start": 205,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "NM_001395413.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.130T>C",
"hgvs_p": "p.Phe44Leu",
"transcript": "ENST00000447222.5",
"protein_id": "ENSP00000393527.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 724,
"cds_start": 130,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Phe87Leu",
"transcript": "NM_001382655.3",
"protein_id": "NP_001369584.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 695,
"cds_start": 259,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.214T>C",
"hgvs_p": "p.Phe72Leu",
"transcript": "ENST00000706545.1",
"protein_id": "ENSP00000516443.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 680,
"cds_start": 214,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.214T>C",
"hgvs_p": "p.Phe72Leu",
"transcript": "ENST00000706546.1",
"protein_id": "ENSP00000516444.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 680,
"cds_start": 214,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.214T>C",
"hgvs_p": "p.Phe72Leu",
"transcript": "ENST00000706547.1",
"protein_id": "ENSP00000516445.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 680,
"cds_start": 214,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "NM_001367562.3",
"protein_id": "NP_001354491.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 677,
"cds_start": 205,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "NM_001382657.2",
"protein_id": "NP_001369586.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 677,
"cds_start": 205,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "NM_001382658.3",
"protein_id": "NP_001369587.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 677,
"cds_start": 205,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "NM_001382659.3",
"protein_id": "NP_001369588.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 677,
"cds_start": 205,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.214T>C",
"hgvs_p": "p.Phe72Leu",
"transcript": "ENST00000706544.1",
"protein_id": "ENSP00000516442.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 647,
"cds_start": 214,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "ENST00000394893.5",
"protein_id": "ENSP00000378355.2",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 630,
"cds_start": 205,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "NM_001382662.3",
"protein_id": "NP_001369591.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 627,
"cds_start": 205,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "ENST00000439963.5",
"protein_id": "ENSP00000390540.2",
"transcript_support_level": 4,
"aa_start": 69,
"aa_end": null,
"aa_length": 184,
"cds_start": 205,
"cds_end": null,
"cds_length": 556,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "ENST00000414186.5",
"protein_id": "ENSP00000399327.2",
"transcript_support_level": 4,
"aa_start": 69,
"aa_end": null,
"aa_length": 168,
"cds_start": 205,
"cds_end": null,
"cds_length": 507,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "ENST00000432753.5",
"protein_id": "ENSP00000389409.2",
"transcript_support_level": 4,
"aa_start": 69,
"aa_end": null,
"aa_length": 162,
"cds_start": 205,
"cds_end": null,
"cds_length": 490,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "ENST00000412521.5",
"protein_id": "ENSP00000409238.2",
"transcript_support_level": 4,
"aa_start": 69,
"aa_end": null,
"aa_length": 142,
"cds_start": 205,
"cds_end": null,
"cds_length": 430,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "ENST00000453773.5",
"protein_id": "ENSP00000395813.2",
"transcript_support_level": 4,
"aa_start": 69,
"aa_end": null,
"aa_length": 136,
"cds_start": 205,
"cds_end": null,
"cds_length": 412,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"transcript": "ENST00000426184.1",
"protein_id": "ENSP00000400964.1",
"transcript_support_level": 4,
"aa_start": 25,
"aa_end": null,
"aa_length": 107,
"cds_start": 73,
"cds_end": null,
"cds_length": 326,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Leu18Pro",
"transcript": "ENST00000439297.1",
"protein_id": "ENSP00000403494.1",
"transcript_support_level": 4,
"aa_start": 18,
"aa_end": null,
"aa_length": 53,
"cds_start": 53,
"cds_end": null,
"cds_length": 163,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 569,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.205T>C",
"hgvs_p": null,
"transcript": "ENST00000412064.6",
"protein_id": "ENSP00000404731.3",
"transcript_support_level": 5,
"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": 1044,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.205T>C",
"hgvs_p": null,
"transcript": "ENST00000448410.5",
"protein_id": "ENSP00000399409.2",
"transcript_support_level": 3,
"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": 1104,
"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": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.205T>C",
"hgvs_p": null,
"transcript": "ENST00000454934.5",
"protein_id": "ENSP00000414263.2",
"transcript_support_level": 3,
"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": 2295,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.241T>C",
"hgvs_p": null,
"transcript": "ENST00000471238.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.-12T>C",
"hgvs_p": null,
"transcript": "ENST00000475509.2",
"protein_id": "ENSP00000516446.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"dbsnp": "rs782107314",
"frequency_reference_population": 0.000008696408,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000891868,
"gnomad_genomes_af": 0.00000656832,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7981467247009277,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.533,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.062,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000461988.6",
"gene_symbol": "POR",
"hgnc_id": 9208,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu"
}
],
"clinvar_disease": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis;Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}