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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: 15-90201649-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90201649&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90201649,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001324034.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "NM_198925.4",
"protein_id": "NP_945119.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 837,
"cds_start": 71,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000411539.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198925.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000411539.7",
"protein_id": "ENSP00000394720.2",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 837,
"cds_start": 71,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198925.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411539.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000332496.10",
"protein_id": "ENSP00000332204.6",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 837,
"cds_start": 71,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332496.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "n.71C>T",
"hgvs_p": null,
"transcript": "ENST00000560089.5",
"protein_id": "ENSP00000453484.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000560089.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "NM_001324034.3",
"protein_id": "NP_001310963.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 847,
"cds_start": 71,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324034.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "NM_001324031.4",
"protein_id": "NP_001310960.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 837,
"cds_start": 71,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324031.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "NM_020210.5",
"protein_id": "NP_064595.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 837,
"cds_start": 71,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020210.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000864015.1",
"protein_id": "ENSP00000534074.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 837,
"cds_start": 71,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864015.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000864016.1",
"protein_id": "ENSP00000534075.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 837,
"cds_start": 71,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864016.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000928644.1",
"protein_id": "ENSP00000598703.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 819,
"cds_start": 71,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928644.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000864019.1",
"protein_id": "ENSP00000534078.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 816,
"cds_start": 71,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864019.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000947039.1",
"protein_id": "ENSP00000617098.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 816,
"cds_start": 71,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947039.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000864017.1",
"protein_id": "ENSP00000534076.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 804,
"cds_start": 71,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864017.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000928645.1",
"protein_id": "ENSP00000598704.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 804,
"cds_start": 71,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928645.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000864018.1",
"protein_id": "ENSP00000534077.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 801,
"cds_start": 71,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864018.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "NM_001324032.3",
"protein_id": "NP_001310961.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 602,
"cds_start": 71,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324032.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "NM_001393916.1",
"protein_id": "NP_001380845.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 602,
"cds_start": 71,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393916.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000559792.5",
"protein_id": "ENSP00000453563.1",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 120,
"cds_start": 71,
"cds_end": null,
"cds_length": 365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559792.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000559322.5",
"protein_id": "ENSP00000453272.1",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 112,
"cds_start": 71,
"cds_end": null,
"cds_length": 341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559322.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000558895.5",
"protein_id": "ENSP00000453705.1",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 90,
"cds_start": 71,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558895.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.-75-15790C>T",
"hgvs_p": null,
"transcript": "NM_001324029.3",
"protein_id": "NP_001310958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": null,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324029.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.-311-15790C>T",
"hgvs_p": null,
"transcript": "NM_001324030.3",
"protein_id": "NP_001310959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324030.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "c.-75-15790C>T",
"hgvs_p": null,
"transcript": "ENST00000561085.1",
"protein_id": "ENSP00000453951.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561085.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "n.114C>T",
"hgvs_p": null,
"transcript": "ENST00000558051.2",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000558051.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "n.320C>T",
"hgvs_p": null,
"transcript": "NR_172049.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_172049.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"hgvs_c": "n.-75-15790C>T",
"hgvs_p": null,
"transcript": "ENST00000559300.5",
"protein_id": "ENSP00000452957.1",
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559300.5"
}
],
"gene_symbol": "SEMA4B",
"gene_hgnc_id": 10730,
"dbsnp": "rs768257009",
"frequency_reference_population": 0.000059974085,
"hom_count_reference_population": 0,
"allele_count_reference_population": 91,
"gnomad_exomes_af": 0.0000564027,
"gnomad_genomes_af": 0.0000920205,
"gnomad_exomes_ac": 77,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012385457754135132,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.1649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.135,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001324034.3",
"gene_symbol": "SEMA4B",
"hgnc_id": 10730,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu"
}
],
"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
}