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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: 6-30740181-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30740181&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30740181,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005803.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser",
"transcript": "NM_005803.4",
"protein_id": "NP_005794.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 427,
"cds_start": 700,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": "ENST00000376389.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005803.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser",
"transcript": "ENST00000376389.8",
"protein_id": "ENSP00000365569.3",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 427,
"cds_start": 700,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": "NM_005803.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376389.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser",
"transcript": "ENST00000445853.5",
"protein_id": "ENSP00000398834.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 234,
"cds_start": 700,
"cds_end": null,
"cds_length": 705,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445853.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.805G>T",
"hgvs_p": "p.Ala269Ser",
"transcript": "ENST00000903950.1",
"protein_id": "ENSP00000574009.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 462,
"cds_start": 805,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903950.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.739G>T",
"hgvs_p": "p.Ala247Ser",
"transcript": "ENST00000914089.1",
"protein_id": "ENSP00000584148.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 440,
"cds_start": 739,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914089.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.739G>T",
"hgvs_p": "p.Ala247Ser",
"transcript": "ENST00000946582.1",
"protein_id": "ENSP00000616641.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 440,
"cds_start": 739,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946582.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser",
"transcript": "ENST00000903944.1",
"protein_id": "ENSP00000574003.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 427,
"cds_start": 700,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903944.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser",
"transcript": "ENST00000903945.1",
"protein_id": "ENSP00000574004.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 427,
"cds_start": 700,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903945.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser",
"transcript": "ENST00000903948.1",
"protein_id": "ENSP00000574007.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 427,
"cds_start": 700,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903948.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser",
"transcript": "ENST00000903949.1",
"protein_id": "ENSP00000574008.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 427,
"cds_start": 700,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903949.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Ala233Ser",
"transcript": "ENST00000903959.1",
"protein_id": "ENSP00000574018.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 426,
"cds_start": 697,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903959.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Ala233Ser",
"transcript": "ENST00000914092.1",
"protein_id": "ENSP00000584151.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 426,
"cds_start": 697,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914092.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.694G>T",
"hgvs_p": "p.Ala232Ser",
"transcript": "ENST00000903953.1",
"protein_id": "ENSP00000574012.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 425,
"cds_start": 694,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903953.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.694G>T",
"hgvs_p": "p.Ala232Ser",
"transcript": "ENST00000946577.1",
"protein_id": "ENSP00000616636.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 425,
"cds_start": 694,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946577.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser",
"transcript": "ENST00000914090.1",
"protein_id": "ENSP00000584149.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 424,
"cds_start": 700,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914090.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Ala230Ser",
"transcript": "ENST00000946579.1",
"protein_id": "ENSP00000616638.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 423,
"cds_start": 688,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946579.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser",
"transcript": "ENST00000903951.1",
"protein_id": "ENSP00000574010.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 422,
"cds_start": 700,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903951.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Ala226Ser",
"transcript": "ENST00000903956.1",
"protein_id": "ENSP00000574015.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 419,
"cds_start": 676,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903956.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Ala222Ser",
"transcript": "ENST00000903952.1",
"protein_id": "ENSP00000574011.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 415,
"cds_start": 664,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903952.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Ala218Ser",
"transcript": "ENST00000946581.1",
"protein_id": "ENSP00000616640.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 411,
"cds_start": 652,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946581.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser",
"transcript": "ENST00000903947.1",
"protein_id": "ENSP00000574006.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 381,
"cds_start": 700,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903947.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Ala186Ser",
"transcript": "NM_001318875.2",
"protein_id": "NP_001305804.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 379,
"cds_start": 556,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1722,
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"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "n.*416G>T",
"hgvs_p": null,
"transcript": "ENST00000413165.6",
"protein_id": "ENSP00000395333.2",
"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": 856,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413165.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.*74G>T",
"hgvs_p": null,
"transcript": "ENST00000416018.5",
"protein_id": "ENSP00000412058.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416018.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "n.*73G>T",
"hgvs_p": null,
"transcript": "ENST00000484168.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484168.1"
}
],
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"dbsnp": "rs1408643365",
"frequency_reference_population": 0.000004792131,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479213,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18954330682754517,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0955,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.882,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005803.4",
"gene_symbol": "FLOT1",
"hgnc_id": 3757,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.700G>T",
"hgvs_p": "p.Ala234Ser"
}
],
"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
}