← Back to variant description
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: 2-17781183-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=17781183&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 17781183,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182625.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "NM_001130009.3",
"protein_id": "NP_001123481.3",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381254.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130009.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "ENST00000381254.7",
"protein_id": "ENSP00000370653.2",
"transcript_support_level": 5,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130009.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381254.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "NM_182625.5",
"protein_id": "NP_872431.5",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182625.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "ENST00000317402.11",
"protein_id": "ENSP00000318977.7",
"transcript_support_level": 2,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317402.11"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "ENST00000862145.1",
"protein_id": "ENSP00000532204.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862145.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "ENST00000862146.1",
"protein_id": "ENSP00000532205.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862146.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "ENST00000862147.1",
"protein_id": "ENSP00000532206.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862147.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "ENST00000862148.1",
"protein_id": "ENSP00000532207.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862148.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "ENST00000912259.1",
"protein_id": "ENSP00000582318.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912259.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "ENST00000912260.1",
"protein_id": "ENSP00000582319.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912260.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "ENST00000912261.1",
"protein_id": "ENSP00000582320.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912261.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "ENST00000912262.1",
"protein_id": "ENSP00000582321.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912262.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "XM_005262613.5",
"protein_id": "XP_005262670.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262613.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "XM_006712005.4",
"protein_id": "XP_006712068.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712005.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "XM_011532820.3",
"protein_id": "XP_011531122.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532820.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "XM_011532821.3",
"protein_id": "XP_011531123.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532821.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "XM_011532822.3",
"protein_id": "XP_011531124.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532822.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp",
"transcript": "XM_047444147.1",
"protein_id": "XP_047300103.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 908,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444147.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.882A>T",
"hgvs_p": "p.Glu294Asp",
"transcript": "XM_047444155.1",
"protein_id": "XP_047300111.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 545,
"cds_start": 882,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444155.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.882A>T",
"hgvs_p": "p.Glu294Asp",
"transcript": "XM_047444156.1",
"protein_id": "XP_047300112.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 545,
"cds_start": 882,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444156.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.882A>T",
"hgvs_p": "p.Glu294Asp",
"transcript": "XM_047444157.1",
"protein_id": "XP_047300113.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 545,
"cds_start": 882,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444157.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.882A>T",
"hgvs_p": "p.Glu294Asp",
"transcript": "XM_047444158.1",
"protein_id": "XP_047300114.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 545,
"cds_start": 882,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444158.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.882A>T",
"hgvs_p": "p.Glu294Asp",
"transcript": "XM_047444159.1",
"protein_id": "XP_047300115.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 545,
"cds_start": 882,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.-6+6632T>A",
"hgvs_p": null,
"transcript": "ENST00000402989.5",
"protein_id": "ENSP00000384539.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": null,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402989.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.-6+17968T>A",
"hgvs_p": null,
"transcript": "ENST00000960848.1",
"protein_id": "ENSP00000630907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": null,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960848.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.-6+18456T>A",
"hgvs_p": null,
"transcript": "ENST00000960849.1",
"protein_id": "ENSP00000630908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": null,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960849.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.-6+6632T>A",
"hgvs_p": null,
"transcript": "ENST00000428868.1",
"protein_id": "ENSP00000415352.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": null,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105373449",
"gene_hgnc_id": null,
"hgvs_c": "n.409-16536T>A",
"hgvs_p": null,
"transcript": "XR_939762.3",
"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": "XR_939762.3"
}
],
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"dbsnp": "rs300168",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08164221048355103,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.1258,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.707,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_182625.5",
"gene_symbol": "GEN1",
"hgnc_id": 26881,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1971A>T",
"hgvs_p": "p.Glu657Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000402989.5",
"gene_symbol": "SMC6",
"hgnc_id": 20466,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-6+6632T>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_939762.3",
"gene_symbol": "LOC105373449",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.409-16536T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}