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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: 6-70858051-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70858051&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 70858051,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001044305.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1091C>T",
"hgvs_p": "p.Pro364Leu",
"transcript": "NM_001044305.3",
"protein_id": "NP_001037770.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 467,
"cds_start": 1091,
"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": "P",
"aa_alt": "L",
"canonical": true,
"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": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1091C>T",
"hgvs_p": "p.Pro364Leu",
"transcript": "ENST00000370455.8",
"protein_id": "ENSP00000359484.3",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 467,
"cds_start": 1091,
"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": "P",
"aa_alt": "L",
"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": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Pro354Leu",
"transcript": "ENST00000619054.4",
"protein_id": "ENSP00000484538.1",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 457,
"cds_start": 1061,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1010C>T",
"hgvs_p": "p.Pro337Leu",
"transcript": "ENST00000316999.9",
"protein_id": "ENSP00000313382.5",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 440,
"cds_start": 1010,
"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.*3612G>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.*3612G>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.*3612G>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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000939437.1",
"protein_id": "ENSP00000609496.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 513,
"cds_start": 1229,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1091C>T",
"hgvs_p": "p.Pro364Leu",
"transcript": "ENST00000960750.1",
"protein_id": "ENSP00000630809.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 495,
"cds_start": 1091,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1145C>T",
"hgvs_p": "p.Pro382Leu",
"transcript": "ENST00000960747.1",
"protein_id": "ENSP00000630806.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 485,
"cds_start": 1145,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Pro380Leu",
"transcript": "ENST00000960749.1",
"protein_id": "ENSP00000630808.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 483,
"cds_start": 1139,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Pro369Leu",
"transcript": "ENST00000960746.1",
"protein_id": "ENSP00000630805.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 472,
"cds_start": 1106,
"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": "P",
"aa_alt": "L",
"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": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1085C>T",
"hgvs_p": "p.Pro362Leu",
"transcript": "ENST00000894942.1",
"protein_id": "ENSP00000565001.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 465,
"cds_start": 1085,
"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": "P",
"aa_alt": "L",
"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": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1091C>T",
"hgvs_p": "p.Pro364Leu",
"transcript": "ENST00000894941.1",
"protein_id": "ENSP00000565000.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 464,
"cds_start": 1091,
"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": "P",
"aa_alt": "L",
"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": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Pro354Leu",
"transcript": "NM_001281440.1",
"protein_id": "NP_001268369.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 457,
"cds_start": 1061,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1010C>T",
"hgvs_p": "p.Pro337Leu",
"transcript": "NM_021940.5",
"protein_id": "NP_068759.2",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 440,
"cds_start": 1010,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1010C>T",
"hgvs_p": "p.Pro337Leu",
"transcript": "ENST00000894940.1",
"protein_id": "ENSP00000564999.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 440,
"cds_start": 1010,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000960748.1",
"protein_id": "ENSP00000630807.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 438,
"cds_start": 1004,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1010C>T",
"hgvs_p": "p.Pro337Leu",
"transcript": "NM_001281439.2",
"protein_id": "NP_001268368.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 436,
"cds_start": 1010,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.1010C>T",
"hgvs_p": "p.Pro337Leu",
"transcript": "ENST00000370452.7",
"protein_id": "ENSP00000359481.3",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 436,
"cds_start": 1010,
"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"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Pro310Leu",
"transcript": "ENST00000894939.1",
"protein_id": "ENSP00000564998.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 413,
"cds_start": 929,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Pro310Leu",
"transcript": "ENST00000960745.1",
"protein_id": "ENSP00000630804.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 413,
"cds_start": 929,
"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"
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{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "SMAP1",
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"hgvs_c": "c.767C>T",
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"transcript": "ENST00000939436.1",
"protein_id": "ENSP00000609495.1",
"transcript_support_level": null,
"aa_start": 256,
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"aa_length": 359,
"cds_start": 767,
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"cds_length": 1080,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
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"consequences": [
"missense_variant"
],
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"exon_count": 12,
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"gene_symbol": "SMAP1",
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"hgvs_c": "c.1010C>T",
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"transcript": "XM_047419227.1",
"protein_id": "XP_047275183.1",
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"aa_start": 337,
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"aa_length": 440,
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"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_047419227.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 10,
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"gene_symbol": "SMAP1",
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"hgvs_c": "c.980C>T",
"hgvs_p": "p.Pro327Leu",
"transcript": "XM_047419228.1",
"protein_id": "XP_047275184.1",
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"aa_start": 327,
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"aa_length": 430,
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"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047419228.1"
},
{
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"protein_coding": true,
"strand": true,
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"missense_variant"
],
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"gene_symbol": "SMAP1",
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"hgvs_c": "c.1010C>T",
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"transcript": "XM_011536047.4",
"protein_id": "XP_011534349.1",
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"cds_end": null,
"cds_length": 1290,
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"biotype": "protein_coding",
"feature": "XM_011536047.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"gene_symbol": "SMAP1",
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"hgvs_c": "c.836C>T",
"hgvs_p": "p.Pro279Leu",
"transcript": "XM_047419229.1",
"protein_id": "XP_047275185.1",
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"aa_start": 279,
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"cds_start": 836,
"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"
}
],
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"dbsnp": "rs141282789",
"frequency_reference_population": 0.000004956691,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000342032,
"gnomad_genomes_af": 0.0000197202,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13487645983695984,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.1448,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.371,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001044305.3",
"gene_symbol": "SMAP1",
"hgnc_id": 19651,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1091C>T",
"hgvs_p": "p.Pro364Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_080742.3",
"gene_symbol": "B3GAT2",
"hgnc_id": 922,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*3612G>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
}