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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: 1-52899221-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=52899221&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 52899221,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001198961.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Pro236Ala",
"transcript": "NM_001198961.2",
"protein_id": "NP_001185890.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 292,
"cds_start": 706,
"cds_end": null,
"cds_length": 879,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": "ENST00000371522.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198961.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Pro236Ala",
"transcript": "ENST00000371522.9",
"protein_id": "ENSP00000360577.4",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 292,
"cds_start": 706,
"cds_end": null,
"cds_length": 879,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": "NM_001198961.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371522.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.*917C>G",
"hgvs_p": null,
"transcript": "ENST00000371520.5",
"protein_id": "ENSP00000360575.1",
"transcript_support_level": 1,
"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": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000371520.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.*917C>G",
"hgvs_p": null,
"transcript": "ENST00000371520.5",
"protein_id": "ENSP00000360575.1",
"transcript_support_level": 1,
"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": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000371520.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Pro277Ala",
"transcript": "ENST00000958445.1",
"protein_id": "ENSP00000628504.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 333,
"cds_start": 829,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958445.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Pro271Ala",
"transcript": "ENST00000874988.1",
"protein_id": "ENSP00000545047.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 327,
"cds_start": 811,
"cds_end": null,
"cds_length": 984,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874988.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.709C>G",
"hgvs_p": "p.Pro237Ala",
"transcript": "ENST00000874990.1",
"protein_id": "ENSP00000545049.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 293,
"cds_start": 709,
"cds_end": null,
"cds_length": 882,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874990.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.703C>G",
"hgvs_p": "p.Pro235Ala",
"transcript": "ENST00000874986.1",
"protein_id": "ENSP00000545045.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 291,
"cds_start": 703,
"cds_end": null,
"cds_length": 876,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874986.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.703C>G",
"hgvs_p": "p.Pro235Ala",
"transcript": "ENST00000958441.1",
"protein_id": "ENSP00000628500.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 291,
"cds_start": 703,
"cds_end": null,
"cds_length": 876,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958441.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.700C>G",
"hgvs_p": "p.Pro234Ala",
"transcript": "ENST00000874981.1",
"protein_id": "ENSP00000545040.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 290,
"cds_start": 700,
"cds_end": null,
"cds_length": 873,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874981.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.694C>G",
"hgvs_p": "p.Pro232Ala",
"transcript": "ENST00000874976.1",
"protein_id": "ENSP00000545035.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 288,
"cds_start": 694,
"cds_end": null,
"cds_length": 867,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874976.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.709C>G",
"hgvs_p": "p.Pro237Ala",
"transcript": "ENST00000874997.1",
"protein_id": "ENSP00000545056.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 277,
"cds_start": 709,
"cds_end": null,
"cds_length": 834,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874997.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Pro236Ala",
"transcript": "ENST00000874973.1",
"protein_id": "ENSP00000545032.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 276,
"cds_start": 706,
"cds_end": null,
"cds_length": 831,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874973.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.703C>G",
"hgvs_p": "p.Pro235Ala",
"transcript": "ENST00000874984.1",
"protein_id": "ENSP00000545043.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 275,
"cds_start": 703,
"cds_end": null,
"cds_length": 828,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874984.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.703C>G",
"hgvs_p": "p.Pro235Ala",
"transcript": "ENST00000958443.1",
"protein_id": "ENSP00000628502.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 275,
"cds_start": 703,
"cds_end": null,
"cds_length": 828,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958443.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.700C>G",
"hgvs_p": "p.Pro234Ala",
"transcript": "ENST00000874995.1",
"protein_id": "ENSP00000545054.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 274,
"cds_start": 700,
"cds_end": null,
"cds_length": 825,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874995.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.649C>G",
"hgvs_p": "p.Pro217Ala",
"transcript": "ENST00000874974.1",
"protein_id": "ENSP00000545033.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 273,
"cds_start": 649,
"cds_end": null,
"cds_length": 822,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874974.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.694C>G",
"hgvs_p": "p.Pro232Ala",
"transcript": "ENST00000874982.1",
"protein_id": "ENSP00000545041.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 272,
"cds_start": 694,
"cds_end": null,
"cds_length": 819,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874982.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Pro213Ala",
"transcript": "ENST00000929358.1",
"protein_id": "ENSP00000599417.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 269,
"cds_start": 637,
"cds_end": null,
"cds_length": 810,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929358.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Pro207Ala",
"transcript": "ENST00000874992.1",
"protein_id": "ENSP00000545051.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 263,
"cds_start": 619,
"cds_end": null,
"cds_length": 792,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874992.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.616C>G",
"hgvs_p": "p.Pro206Ala",
"transcript": "ENST00000874987.1",
"protein_id": "ENSP00000545046.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 262,
"cds_start": 616,
"cds_end": null,
"cds_length": 789,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874987.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Pro205Ala",
"transcript": "NM_018281.4",
"protein_id": "NP_060751.2",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 261,
"cds_start": 613,
"cds_end": null,
"cds_length": 786,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 4,
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"gene_symbol": "ECHDC2",
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"hgvs_c": "n.94C>G",
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"transcript": "ENST00000543419.5",
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"transcript_support_level": 3,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 555,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000543419.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
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"hgvs_c": "n.*922C>G",
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"transcript": "ENST00000476477.6",
"protein_id": "ENSP00000446190.1",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1676,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000476477.6"
}
],
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"dbsnp": "rs367965474",
"frequency_reference_population": 0.000007524578,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752458,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7893097400665283,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.705,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4013,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.986,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001198961.2",
"gene_symbol": "ECHDC2",
"hgnc_id": 23408,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.706C>G",
"hgvs_p": "p.Pro236Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}