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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: 10-43119686-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=43119686&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 43119686,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355710.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Asp850Asn",
"transcript": "NM_020975.6",
"protein_id": "NP_066124.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2548,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": "ENST00000355710.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Asp850Asn",
"transcript": "ENST00000355710.8",
"protein_id": "ENSP00000347942.3",
"transcript_support_level": 5,
"aa_start": 850,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2548,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": "NM_020975.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Asp850Asn",
"transcript": "ENST00000340058.6",
"protein_id": "ENSP00000344798.4",
"transcript_support_level": 1,
"aa_start": 850,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2548,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Asp850Asn",
"transcript": "NM_001406743.1",
"protein_id": "NP_001393672.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2548,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Asp850Asn",
"transcript": "NM_001406744.1",
"protein_id": "NP_001393673.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2548,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Asp850Asn",
"transcript": "NM_001406759.1",
"protein_id": "NP_001393688.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2548,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Asp850Asn",
"transcript": "NM_001406760.1",
"protein_id": "NP_001393689.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2548,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Asp850Asn",
"transcript": "NM_020630.7",
"protein_id": "NP_065681.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2548,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2419G>A",
"hgvs_p": "p.Asp807Asn",
"transcript": "NM_001406761.1",
"protein_id": "NP_001393690.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2419,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 2609,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2419G>A",
"hgvs_p": "p.Asp807Asn",
"transcript": "NM_001406762.1",
"protein_id": "NP_001393691.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2419,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 2609,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2413G>A",
"hgvs_p": "p.Asp805Asn",
"transcript": "NM_001406763.1",
"protein_id": "NP_001393692.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2413,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2603,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2419G>A",
"hgvs_p": "p.Asp807Asn",
"transcript": "NM_001406764.1",
"protein_id": "NP_001393693.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2419,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2609,
"cdna_end": null,
"cdna_length": 6877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2413G>A",
"hgvs_p": "p.Asp805Asn",
"transcript": "NM_001406765.1",
"protein_id": "NP_001393694.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2413,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 2603,
"cdna_end": null,
"cdna_length": 6871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Asp754Asn",
"transcript": "NM_001406766.1",
"protein_id": "NP_001393695.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2260,
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"cds_length": 3057,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Asp754Asn",
"transcript": "NM_001406767.1",
"protein_id": "NP_001393696.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2260,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2284G>A",
"hgvs_p": "p.Asp762Asn",
"transcript": "NM_001406768.1",
"protein_id": "NP_001393697.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 984,
"cds_start": 2284,
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"cds_length": 2955,
"cdna_start": 2474,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2284G>A",
"hgvs_p": "p.Asp762Asn",
"transcript": "ENST00000713926.1",
"protein_id": "ENSP00000519223.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 984,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Asp718Asn",
"transcript": "NM_001406769.1",
"protein_id": "NP_001393698.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 982,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Asp754Asn",
"transcript": "NM_001406770.1",
"protein_id": "NP_001393699.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 976,
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"cdna_start": 2450,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"transcript": "NM_001406771.1",
"protein_id": "NP_001393700.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 968,
"cds_start": 2110,
"cds_end": null,
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"cdna_start": 2300,
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"cdna_length": 5179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Asp718Asn",
"transcript": "NM_001406772.1",
"protein_id": "NP_001393701.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 940,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Asp718Asn",
"transcript": "ENST00000615310.5",
"protein_id": "ENSP00000480088.2",
"transcript_support_level": 5,
"aa_start": 718,
"aa_end": null,
"aa_length": 940,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 6513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
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"canonical": false,
"protein_coding": false,
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},
{
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"protein_coding": false,
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"non_coding_transcript_exon_variant"
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 9,
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"gene_symbol": "RET",
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 16,
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"gene_symbol": "RET",
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"transcript": "ENST00000671844.1",
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{
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"3_prime_UTR_variant"
],
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"gene_symbol": "RET",
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"transcript": "ENST00000672389.1",
"protein_id": "ENSP00000500252.1",
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}
],
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"dbsnp": "rs772862503",
"frequency_reference_population": 0.0000013687137,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136871,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9173351526260376,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.712,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5064,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.988,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": "ENST00000355710.8",
"gene_symbol": "RET",
"hgnc_id": 9967,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Asp850Asn"
}
],
"clinvar_disease": " 1, susceptibility to, type 2,Hereditary cancer-predisposing syndrome,Hirschsprung disease,Multiple endocrine neoplasia,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia, type 2|Hirschsprung disease, susceptibility to, 1|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}