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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: 1-32944087-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32944087&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 32944087,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_153341.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Cys445Tyr",
"transcript": "NM_001300826.2",
"protein_id": "NP_001287755.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 731,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000235150.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300826.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Cys445Tyr",
"transcript": "ENST00000235150.5",
"protein_id": "ENSP00000235150.4",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 731,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001300826.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000235150.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Cys446Tyr",
"transcript": "ENST00000373456.11",
"protein_id": "ENSP00000362555.7",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 732,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373456.11"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Cys445Tyr",
"transcript": "ENST00000356990.9",
"protein_id": "ENSP00000349482.5",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 587,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356990.9"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Cys445Tyr",
"transcript": "ENST00000959794.1",
"protein_id": "ENSP00000629853.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 763,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959794.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Cys476Tyr",
"transcript": "ENST00000959797.1",
"protein_id": "ENSP00000629856.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 762,
"cds_start": 1427,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959797.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Cys446Tyr",
"transcript": "NM_153341.4",
"protein_id": "NP_699172.2",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 732,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153341.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Cys445Tyr",
"transcript": "ENST00000921592.1",
"protein_id": "ENSP00000591651.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 731,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921592.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Cys446Tyr",
"transcript": "ENST00000959791.1",
"protein_id": "ENSP00000629850.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 688,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959791.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Cys446Tyr",
"transcript": "ENST00000959796.1",
"protein_id": "ENSP00000629855.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 688,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959796.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Cys445Tyr",
"transcript": "ENST00000921593.1",
"protein_id": "ENSP00000591652.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 687,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921593.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Cys329Tyr",
"transcript": "ENST00000959798.1",
"protein_id": "ENSP00000629857.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 615,
"cds_start": 986,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959798.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Cys445Tyr",
"transcript": "NM_001127361.3",
"protein_id": "NP_001120833.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 587,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127361.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Cys446Tyr",
"transcript": "XM_006710356.3",
"protein_id": "XP_006710419.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 732,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710356.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Cys446Tyr",
"transcript": "XM_006710357.4",
"protein_id": "XP_006710420.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 688,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710357.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1334G>A",
"hgvs_p": "p.Cys445Tyr",
"transcript": "XM_047445558.1",
"protein_id": "XP_047301514.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 687,
"cds_start": 1334,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445558.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Cys446Tyr",
"transcript": "XM_006710358.4",
"protein_id": "XP_006710421.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 588,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710358.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1264+1427G>A",
"hgvs_p": null,
"transcript": "ENST00000959795.1",
"protein_id": "ENSP00000629854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": null,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959795.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1261+1427G>A",
"hgvs_p": null,
"transcript": "ENST00000959790.1",
"protein_id": "ENSP00000629849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": null,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959790.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.1261+1427G>A",
"hgvs_p": null,
"transcript": "ENST00000959793.1",
"protein_id": "ENSP00000629852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": null,
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"cds_length": 2055,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959793.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.636-5559G>A",
"hgvs_p": null,
"transcript": "ENST00000959792.1",
"protein_id": "ENSP00000629851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959792.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"hgvs_c": "c.561-6828G>A",
"hgvs_p": null,
"transcript": "ENST00000921594.1",
"protein_id": "ENSP00000591653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000921594.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000287691",
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"hgvs_c": "n.364-7340C>T",
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"transcript": "ENST00000661031.1",
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"transcript_support_level": null,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000661031.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000287691",
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"hgvs_c": "n.278-7340C>T",
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"transcript": "ENST00000838086.1",
"protein_id": null,
"transcript_support_level": null,
"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000838086.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000287691",
"gene_hgnc_id": null,
"hgvs_c": "n.416-7340C>T",
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"transcript": "ENST00000838087.1",
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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": "pseudogene",
"feature": "ENST00000838087.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000287691",
"gene_hgnc_id": null,
"hgvs_c": "n.396-2335C>T",
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"transcript": "ENST00000838088.1",
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"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": "pseudogene",
"feature": "ENST00000838088.1"
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],
"gene_symbol": "RNF19B",
"gene_hgnc_id": 26886,
"dbsnp": "rs1038997469",
"frequency_reference_population": 0.00004337244,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000465202,
"gnomad_genomes_af": 0.0000131408,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8631466627120972,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.522,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9961,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153341.4",
"gene_symbol": "RNF19B",
"hgnc_id": 26886,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Cys446Tyr"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000661031.1",
"gene_symbol": "ENSG00000287691",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.364-7340C>T",
"hgvs_p": null
}
],
"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
}