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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: 7-75983548-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=75983548&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 75983548,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001382655.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "NM_001395413.1",
"protein_id": "NP_001382342.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000461988.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395413.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000461988.6",
"protein_id": "ENSP00000419970.2",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395413.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461988.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.1009G>C",
"hgvs_p": "p.Ala337Pro",
"transcript": "ENST00000447222.5",
"protein_id": "ENSP00000393527.1",
"transcript_support_level": 5,
"aa_start": 337,
"aa_end": null,
"aa_length": 724,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447222.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.904G>C",
"hgvs_p": "p.Ala302Pro",
"transcript": "NM_001382655.3",
"protein_id": "NP_001369584.2",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 695,
"cds_start": 904,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382655.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910548.1",
"protein_id": "ENSP00000580607.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 686,
"cds_start": 850,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910548.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910554.1",
"protein_id": "ENSP00000580613.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 683,
"cds_start": 850,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910554.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910556.1",
"protein_id": "ENSP00000580615.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 683,
"cds_start": 850,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910556.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Ala287Pro",
"transcript": "ENST00000706545.1",
"protein_id": "ENSP00000516443.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 680,
"cds_start": 859,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706545.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Ala287Pro",
"transcript": "ENST00000706546.1",
"protein_id": "ENSP00000516444.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 680,
"cds_start": 859,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706546.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Ala287Pro",
"transcript": "ENST00000706547.1",
"protein_id": "ENSP00000516445.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 680,
"cds_start": 859,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706547.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "NM_001367562.3",
"protein_id": "NP_001354491.2",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367562.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "NM_001382657.2",
"protein_id": "NP_001369586.2",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382657.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "NM_001382658.3",
"protein_id": "NP_001369587.2",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382658.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "NM_001382659.3",
"protein_id": "NP_001369588.2",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382659.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910546.1",
"protein_id": "ENSP00000580605.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910546.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910549.1",
"protein_id": "ENSP00000580608.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910549.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910550.1",
"protein_id": "ENSP00000580609.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910550.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910551.1",
"protein_id": "ENSP00000580610.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910551.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910552.1",
"protein_id": "ENSP00000580611.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910552.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910553.1",
"protein_id": "ENSP00000580612.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910553.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910555.1",
"protein_id": "ENSP00000580614.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910555.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Ala284Pro",
"transcript": "ENST00000910559.1",
"protein_id": "ENSP00000580618.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 677,
"cds_start": 850,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910559.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
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"gene_symbol": "POR",
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"hgvs_c": "n.113G>C",
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"transcript": "ENST00000487247.5",
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"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487247.5"
},
{
"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": 5,
"intron_rank": null,
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"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.233G>C",
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"transcript": "ENST00000496888.5",
"protein_id": null,
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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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496888.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.*20G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412064.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.*164G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000454934.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"hgvs_c": "n.-241G>C",
"hgvs_p": null,
"transcript": "ENST00000495770.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495770.1"
}
],
"gene_symbol": "POR",
"gene_hgnc_id": 9208,
"dbsnp": "rs121912974",
"frequency_reference_population": 0.00031186294,
"hom_count_reference_population": 0,
"allele_count_reference_population": 503,
"gnomad_exomes_af": 0.000322412,
"gnomad_genomes_af": 0.00021049,
"gnomad_exomes_ac": 471,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8583303689956665,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.887,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9942,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.34,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001382655.3",
"gene_symbol": "POR",
"hgnc_id": 9208,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.904G>C",
"hgvs_p": "p.Ala302Pro"
}
],
"clinvar_disease": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,Inborn genetic diseases,POR-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8 O:1",
"phenotype_combined": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis|not provided|Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|POR-related disorder|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis;Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}