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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: 15-83618084-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=83618084&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 83618084,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001301109.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Ser281Pro",
"transcript": "NM_003027.5",
"protein_id": "NP_003018.3",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 347,
"cds_start": 841,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": "ENST00000427482.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003027.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.841T>C",
"hgvs_p": "p.Ser281Pro",
"transcript": "ENST00000427482.7",
"protein_id": "ENSP00000391372.2",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 347,
"cds_start": 841,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": "NM_003027.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427482.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.*636T>C",
"hgvs_p": null,
"transcript": "ENST00000563901.5",
"protein_id": "ENSP00000456249.1",
"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": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000563901.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.*636T>C",
"hgvs_p": null,
"transcript": "ENST00000563901.5",
"protein_id": "ENSP00000456249.1",
"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": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000563901.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Ser303Pro",
"transcript": "ENST00000903482.1",
"protein_id": "ENSP00000573541.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 369,
"cds_start": 907,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903482.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.865T>C",
"hgvs_p": "p.Ser289Pro",
"transcript": "NM_001301109.2",
"protein_id": "NP_001288038.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 355,
"cds_start": 865,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301109.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.865T>C",
"hgvs_p": "p.Ser289Pro",
"transcript": "NM_001324183.2",
"protein_id": "NP_001311112.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 355,
"cds_start": 865,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324183.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.865T>C",
"hgvs_p": "p.Ser289Pro",
"transcript": "ENST00000324537.5",
"protein_id": "ENSP00000320092.5",
"transcript_support_level": 2,
"aa_start": 289,
"aa_end": null,
"aa_length": 355,
"cds_start": 865,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324537.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.772T>C",
"hgvs_p": "p.Ser258Pro",
"transcript": "ENST00000951042.1",
"protein_id": "ENSP00000621101.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 324,
"cds_start": 772,
"cds_end": null,
"cds_length": 975,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951042.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Ser246Pro",
"transcript": "NM_001324184.2",
"protein_id": "NP_001311113.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 312,
"cds_start": 736,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324184.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Ser246Pro",
"transcript": "NM_001324186.2",
"protein_id": "NP_001311115.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 312,
"cds_start": 736,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324186.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Ser212Pro",
"transcript": "NM_001301108.2",
"protein_id": "NP_001288037.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 278,
"cds_start": 634,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301108.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Ser212Pro",
"transcript": "NM_001324185.2",
"protein_id": "NP_001311114.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 278,
"cds_start": 634,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324185.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Ser212Pro",
"transcript": "NM_001324187.1",
"protein_id": "NP_001311116.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 278,
"cds_start": 634,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324187.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.865T>C",
"hgvs_p": "p.Ser289Pro",
"transcript": "XM_011521889.2",
"protein_id": "XP_011520191.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 355,
"cds_start": 865,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 1970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521889.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Ser212Pro",
"transcript": "XM_017022486.3",
"protein_id": "XP_016877975.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 278,
"cds_start": 634,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022486.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "c.1011T>C",
"hgvs_p": "p.Val337Val",
"transcript": "NM_001324182.2",
"protein_id": "NP_001311111.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 360,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324182.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.237T>C",
"hgvs_p": null,
"transcript": "ENST00000467735.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 458,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467735.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.200T>C",
"hgvs_p": null,
"transcript": "ENST00000564054.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 758,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000564054.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.1231T>C",
"hgvs_p": null,
"transcript": "NR_125370.2",
"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": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125370.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.1375T>C",
"hgvs_p": null,
"transcript": "NR_136711.2",
"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": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136711.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.1562T>C",
"hgvs_p": null,
"transcript": "NR_136712.2",
"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": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136712.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.1224T>C",
"hgvs_p": null,
"transcript": "NR_136713.2",
"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": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136713.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.1183T>C",
"hgvs_p": null,
"transcript": "NR_136714.2",
"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": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136714.2"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.1379+8618T>C",
"hgvs_p": null,
"transcript": "XR_007064483.1",
"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": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064483.1"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"hgvs_c": "n.1379+8618T>C",
"hgvs_p": null,
"transcript": "XR_007064484.1",
"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": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064484.1"
}
],
"gene_symbol": "SH3GL3",
"gene_hgnc_id": 10832,
"dbsnp": "rs2060876892",
"frequency_reference_population": 6.869934e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86993e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06311726570129395,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0721,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.681,
"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_001301109.2",
"gene_symbol": "SH3GL3",
"hgnc_id": 10832,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.865T>C",
"hgvs_p": "p.Ser289Pro"
}
],
"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
}