← 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: 18-47841927-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=47841927&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 47841927,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005901.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "NM_005901.6",
"protein_id": "NP_005892.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262160.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005901.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000262160.11",
"protein_id": "ENSP00000262160.6",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005901.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262160.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000402690.6",
"protein_id": "ENSP00000384449.1",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402690.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "ENST00000356825.8",
"protein_id": "ENSP00000349282.4",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 437,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356825.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1541C>T",
"hgvs_p": "p.Pro514Leu",
"transcript": "ENST00000966650.1",
"protein_id": "ENSP00000636709.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 546,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966650.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "NM_001003652.4",
"protein_id": "NP_001003652.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003652.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000878359.1",
"protein_id": "ENSP00000548418.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878359.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000878360.1",
"protein_id": "ENSP00000548419.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878360.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000878361.1",
"protein_id": "ENSP00000548420.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878361.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000878362.1",
"protein_id": "ENSP00000548421.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878362.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000878363.1",
"protein_id": "ENSP00000548422.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878363.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000878364.1",
"protein_id": "ENSP00000548423.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878364.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000878368.1",
"protein_id": "ENSP00000548427.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878368.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000878370.1",
"protein_id": "ENSP00000548429.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878370.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000878371.1",
"protein_id": "ENSP00000548430.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878371.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000936519.1",
"protein_id": "ENSP00000606578.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936519.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000936522.1",
"protein_id": "ENSP00000606581.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936522.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000936523.1",
"protein_id": "ENSP00000606582.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936523.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000966645.1",
"protein_id": "ENSP00000636704.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966645.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000966649.1",
"protein_id": "ENSP00000636708.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966649.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "ENST00000966653.1",
"protein_id": "ENSP00000636712.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 467,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966653.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1295C>T",
"hgvs_p": "p.Pro432Leu",
"transcript": "ENST00000966648.1",
"protein_id": "ENSP00000636707.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 464,
"cds_start": 1295,
"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": "ENST00000966648.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Pro430Leu",
"transcript": "ENST00000878367.1",
"protein_id": "ENSP00000548426.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 462,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878367.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1280C>T",
"hgvs_p": "p.Pro427Leu",
"transcript": "ENST00000966652.1",
"protein_id": "ENSP00000636711.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 459,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966652.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Pro417Leu",
"transcript": "ENST00000966643.1",
"protein_id": "ENSP00000636702.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 449,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966643.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Pro417Leu",
"transcript": "ENST00000966644.1",
"protein_id": "ENSP00000636703.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 449,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966644.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Pro417Leu",
"transcript": "ENST00000966647.1",
"protein_id": "ENSP00000636706.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 449,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966647.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000878358.1",
"protein_id": "ENSP00000548417.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 442,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878358.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000878369.1",
"protein_id": "ENSP00000548428.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 442,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878369.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "NM_001135937.3",
"protein_id": "NP_001129409.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 437,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135937.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "ENST00000586040.5",
"protein_id": "ENSP00000466193.1",
"transcript_support_level": 5,
"aa_start": 405,
"aa_end": null,
"aa_length": 437,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586040.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "ENST00000878365.1",
"protein_id": "ENSP00000548424.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 437,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878365.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "ENST00000878366.1",
"protein_id": "ENSP00000548425.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 437,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878366.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "ENST00000936521.1",
"protein_id": "ENSP00000606580.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 437,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936521.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "ENST00000966646.1",
"protein_id": "ENSP00000636705.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 437,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966646.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "ENST00000966651.1",
"protein_id": "ENSP00000636710.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 437,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966651.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1160C>T",
"hgvs_p": "p.Pro387Leu",
"transcript": "ENST00000936520.1",
"protein_id": "ENSP00000606579.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 419,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936520.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Pro380Leu",
"transcript": "ENST00000966654.1",
"protein_id": "ENSP00000636713.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 412,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966654.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Pro346Leu",
"transcript": "ENST00000878372.1",
"protein_id": "ENSP00000548431.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 378,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878372.1"
}
],
"gene_symbol": "SMAD2",
"gene_hgnc_id": 6768,
"dbsnp": "rs2144276937",
"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": 0.9912506341934204,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.973,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005901.6",
"gene_symbol": "SMAD2",
"hgnc_id": 6768,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}