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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: 2-213490087-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=213490087&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 213490087,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000331683.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "NM_024532.5",
"protein_id": "NP_078808.3",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 631,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": "ENST00000331683.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "ENST00000331683.10",
"protein_id": "ENSP00000332592.5",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 631,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": "NM_024532.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*1068G>A",
"hgvs_p": null,
"transcript": "ENST00000406979.6",
"protein_id": "ENSP00000385496.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*1068G>A",
"hgvs_p": null,
"transcript": "ENST00000406979.6",
"protein_id": "ENSP00000385496.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000451561.1",
"protein_id": "ENSP00000416600.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 255,
"cds_start": 125,
"cds_end": null,
"cds_length": 768,
"cdna_start": 125,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Ser325Asn",
"transcript": "XM_011511814.2",
"protein_id": "XP_011510116.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 600,
"cds_start": 974,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "XM_011511815.3",
"protein_id": "XP_011510117.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 592,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "XM_011511816.4",
"protein_id": "XP_011510118.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 592,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "XM_011511817.3",
"protein_id": "XP_011510119.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 582,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "XM_011511818.3",
"protein_id": "XP_011510120.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 577,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.905G>A",
"hgvs_p": "p.Ser302Asn",
"transcript": "XM_011511819.3",
"protein_id": "XP_011510121.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 577,
"cds_start": 905,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "XM_011511820.3",
"protein_id": "XP_011510122.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 569,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Ser253Asn",
"transcript": "XM_011511823.4",
"protein_id": "XP_011510125.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 528,
"cds_start": 758,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "XM_011511824.3",
"protein_id": "XP_011510126.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 520,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Ser237Asn",
"transcript": "XM_017004897.1",
"protein_id": "XP_016860386.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 512,
"cds_start": 710,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 3869,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Ser237Asn",
"transcript": "XM_047445817.1",
"protein_id": "XP_047301773.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 512,
"cds_start": 710,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Ser115Asn",
"transcript": "XM_017004898.1",
"protein_id": "XP_016860387.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 390,
"cds_start": 344,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "XM_011511828.3",
"protein_id": "XP_011510130.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 365,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "XM_011511829.3",
"protein_id": "XP_011510131.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 360,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "XM_011511831.3",
"protein_id": "XP_011510133.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 356,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn",
"transcript": "XM_011511832.3",
"protein_id": "XP_011510134.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 356,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Ser50Asn",
"transcript": "XM_024453140.2",
"protein_id": "XP_024308908.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 325,
"cds_start": 149,
"cds_end": null,
"cds_length": 978,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*633G>A",
"hgvs_p": null,
"transcript": "ENST00000452556.5",
"protein_id": "ENSP00000398926.1",
"transcript_support_level": 2,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "SPAG16",
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"hgvs_c": "n.1262G>A",
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"transcript": "NR_047659.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2277,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.968G>A",
"hgvs_p": null,
"transcript": "NR_047660.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1983,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*633G>A",
"hgvs_p": null,
"transcript": "ENST00000452556.5",
"protein_id": "ENSP00000398926.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"dbsnp": "rs61752199",
"frequency_reference_population": 0.01677271,
"hom_count_reference_population": 335,
"allele_count_reference_population": 26388,
"gnomad_exomes_af": 0.0170107,
"gnomad_genomes_af": 0.0145509,
"gnomad_exomes_ac": 24173,
"gnomad_genomes_ac": 2215,
"gnomad_exomes_homalt": 311,
"gnomad_genomes_homalt": 24,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0043849945068359375,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.2328,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.557,
"phylop100way_prediction": "Benign",
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000331683.10",
"gene_symbol": "SPAG16",
"hgnc_id": 23225,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Ser356Asn"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}