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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: 2-240877555-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240877555&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM1",
"PM2",
"PP2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AGXT",
"hgnc_id": 341,
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Arg289Ser",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 3,
"transcript": "NM_000030.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2,BP4_Moderate",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2281,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.218105286359787,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1179,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000030.3",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Arg289Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307503.4",
"protein_coding": true,
"protein_id": "NP_000021.1",
"strand": true,
"transcript": "NM_000030.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1179,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000307503.4",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Arg289Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000030.3",
"protein_coding": true,
"protein_id": "ENSP00000302620.3",
"strand": true,
"transcript": "ENST00000307503.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908235.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.1138C>A",
"hgvs_p": "p.Arg380Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578294.1",
"strand": true,
"transcript": "ENST00000908235.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 455,
"aa_ref": "R",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1054,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908236.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.Arg352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578295.1",
"strand": true,
"transcript": "ENST00000908236.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 441,
"aa_ref": "R",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1012,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908246.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Arg338Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578305.1",
"strand": true,
"transcript": "ENST00000908246.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1260,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908247.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.946C>A",
"hgvs_p": "p.Arg316Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578306.1",
"strand": true,
"transcript": "ENST00000908247.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1254,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908244.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Arg289Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578303.1",
"strand": true,
"transcript": "ENST00000908244.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 409,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1230,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908232.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Arg306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578291.1",
"strand": true,
"transcript": "ENST00000908232.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 406,
"aa_ref": "R",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1221,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908229.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.907C>A",
"hgvs_p": "p.Arg303Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578288.1",
"strand": true,
"transcript": "ENST00000908229.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1197,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908228.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.883C>A",
"hgvs_p": "p.Arg295Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578287.1",
"strand": true,
"transcript": "ENST00000908228.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1197,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908243.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.883C>A",
"hgvs_p": "p.Arg295Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578302.1",
"strand": true,
"transcript": "ENST00000908243.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1197,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908245.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.883C>A",
"hgvs_p": "p.Arg295Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578304.1",
"strand": true,
"transcript": "ENST00000908245.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 391,
"aa_ref": "R",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1176,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
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"feature": "ENST00000908242.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.862C>A",
"hgvs_p": "p.Arg288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578301.1",
"strand": true,
"transcript": "ENST00000908242.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 389,
"aa_ref": "R",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1170,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908230.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.856C>A",
"hgvs_p": "p.Arg286Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578289.1",
"strand": true,
"transcript": "ENST00000908230.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 388,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1167,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908238.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.853C>A",
"hgvs_p": "p.Arg285Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578297.1",
"strand": true,
"transcript": "ENST00000908238.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1128,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908231.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.814C>A",
"hgvs_p": "p.Arg272Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578290.1",
"strand": true,
"transcript": "ENST00000908231.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 373,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1458,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1122,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908241.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Arg289Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578300.1",
"strand": true,
"transcript": "ENST00000908241.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 370,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1113,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908240.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Arg289Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578299.1",
"strand": true,
"transcript": "ENST00000908240.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 349,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1050,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908237.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Arg289Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578296.1",
"strand": true,
"transcript": "ENST00000908237.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 340,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4017,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1023,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908227.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.709C>A",
"hgvs_p": "p.Arg237Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578286.1",
"strand": true,
"transcript": "ENST00000908227.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1334,
"cdna_start": 721,
"cds_end": null,
"cds_length": 993,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908234.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578293.1",
"strand": true,
"transcript": "ENST00000908234.1",
"transcript_support_level": null
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