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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: 6-70860246-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70860246&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 70860246,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001044305.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Ile",
"transcript": "NM_001044305.3",
"protein_id": "NP_001037770.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 467,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370455.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001044305.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Ile",
"transcript": "ENST00000370455.8",
"protein_id": "ENSP00000359484.3",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 467,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001044305.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370455.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Thr429Ile",
"transcript": "ENST00000619054.4",
"protein_id": "ENSP00000484538.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 457,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619054.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1235C>T",
"hgvs_p": "p.Thr412Ile",
"transcript": "ENST00000316999.9",
"protein_id": "ENSP00000313382.5",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 440,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316999.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT2",
"gene_hgnc_id": 922,
"hgvs_c": "c.*1417G>A",
"hgvs_p": null,
"transcript": "NM_080742.3",
"protein_id": "NP_542780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000230053.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080742.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT2",
"gene_hgnc_id": 922,
"hgvs_c": "c.*1417G>A",
"hgvs_p": null,
"transcript": "ENST00000230053.11",
"protein_id": "ENSP00000230053.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080742.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230053.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT2",
"gene_hgnc_id": 922,
"hgvs_c": "c.*1417G>A",
"hgvs_p": null,
"transcript": "ENST00000615536.1",
"protein_id": "ENSP00000481320.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615536.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Thr485Ile",
"transcript": "ENST00000939437.1",
"protein_id": "ENSP00000609496.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 513,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939437.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1400C>T",
"hgvs_p": "p.Thr467Ile",
"transcript": "ENST00000960750.1",
"protein_id": "ENSP00000630809.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 495,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960750.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Thr457Ile",
"transcript": "ENST00000960747.1",
"protein_id": "ENSP00000630806.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 485,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960747.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Thr455Ile",
"transcript": "ENST00000960749.1",
"protein_id": "ENSP00000630808.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 483,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960749.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Thr444Ile",
"transcript": "ENST00000960746.1",
"protein_id": "ENSP00000630805.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 472,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960746.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1310C>T",
"hgvs_p": "p.Thr437Ile",
"transcript": "ENST00000894942.1",
"protein_id": "ENSP00000565001.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 465,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894942.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Thr436Ile",
"transcript": "ENST00000894941.1",
"protein_id": "ENSP00000565000.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 464,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894941.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Thr429Ile",
"transcript": "NM_001281440.1",
"protein_id": "NP_001268369.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 457,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281440.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1235C>T",
"hgvs_p": "p.Thr412Ile",
"transcript": "NM_021940.5",
"protein_id": "NP_068759.2",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 440,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021940.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1235C>T",
"hgvs_p": "p.Thr412Ile",
"transcript": "ENST00000894940.1",
"protein_id": "ENSP00000564999.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 440,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894940.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Thr410Ile",
"transcript": "ENST00000960748.1",
"protein_id": "ENSP00000630807.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 438,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960748.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Thr385Ile",
"transcript": "ENST00000894939.1",
"protein_id": "ENSP00000564998.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 413,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894939.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Thr385Ile",
"transcript": "ENST00000960745.1",
"protein_id": "ENSP00000630804.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 413,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960745.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Ile",
"transcript": "ENST00000939436.1",
"protein_id": "ENSP00000609495.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 359,
"cds_start": 992,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939436.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1235C>T",
"hgvs_p": "p.Thr412Ile",
"transcript": "XM_047419227.1",
"protein_id": "XP_047275183.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 440,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419227.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1205C>T",
"hgvs_p": "p.Thr402Ile",
"transcript": "XM_047419228.1",
"protein_id": "XP_047275184.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 430,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419228.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Thr354Ile",
"transcript": "XM_047419229.1",
"protein_id": "XP_047275185.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 382,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.*12C>T",
"hgvs_p": null,
"transcript": "NM_001281439.2",
"protein_id": "NP_001268368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281439.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.*12C>T",
"hgvs_p": null,
"transcript": "ENST00000370452.7",
"protein_id": "ENSP00000359481.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370452.7"
}
],
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"dbsnp": "rs146782076",
"frequency_reference_population": 0.0000241686,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.00000957975,
"gnomad_genomes_af": 0.000164206,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.025121599435806274,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23999999463558197,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.1108,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.44,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001044305.3",
"gene_symbol": "SMAP1",
"hgnc_id": 19651,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1316C>T",
"hgvs_p": "p.Thr439Ile"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_080742.3",
"gene_symbol": "B3GAT2",
"hgnc_id": 922,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1417G>A",
"hgvs_p": null
}
],
"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
}