← 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: 19-3938712-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3938712&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3938712,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001289117.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "NM_170678.3",
"protein_id": "NP_733778.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 230,
"cds_start": 276,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000168977.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170678.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000168977.7",
"protein_id": "ENSP00000168977.1",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 230,
"cds_start": 276,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_170678.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000168977.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Ser97Ser",
"transcript": "ENST00000593949.1",
"protein_id": "ENSP00000472581.1",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 235,
"cds_start": 291,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593949.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.333G>C",
"hgvs_p": "p.Ser111Ser",
"transcript": "ENST00000968742.1",
"protein_id": "ENSP00000638801.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 249,
"cds_start": 333,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968742.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.300G>C",
"hgvs_p": "p.Ser100Ser",
"transcript": "ENST00000968744.1",
"protein_id": "ENSP00000638803.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 238,
"cds_start": 300,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968744.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Ser97Ser",
"transcript": "NM_001289117.2",
"protein_id": "NP_001276046.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 235,
"cds_start": 291,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289117.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Ser97Ser",
"transcript": "ENST00000616156.4",
"protein_id": "ENSP00000480091.1",
"transcript_support_level": 5,
"aa_start": 97,
"aa_end": null,
"aa_length": 235,
"cds_start": 291,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616156.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000968743.1",
"protein_id": "ENSP00000638802.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 235,
"cds_start": 276,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968743.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000861808.1",
"protein_id": "ENSP00000531867.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 230,
"cds_start": 276,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861808.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000861810.1",
"protein_id": "ENSP00000531869.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 230,
"cds_start": 276,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861810.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000861811.1",
"protein_id": "ENSP00000531870.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 230,
"cds_start": 276,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861811.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000861812.1",
"protein_id": "ENSP00000531871.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 230,
"cds_start": 276,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861812.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000913543.1",
"protein_id": "ENSP00000583602.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 230,
"cds_start": 276,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913543.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000913545.1",
"protein_id": "ENSP00000583604.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 230,
"cds_start": 276,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913545.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000913546.1",
"protein_id": "ENSP00000583605.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 230,
"cds_start": 276,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913546.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000913547.1",
"protein_id": "ENSP00000583606.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 230,
"cds_start": 276,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913547.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Ser97Ser",
"transcript": "ENST00000861813.1",
"protein_id": "ENSP00000531872.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 211,
"cds_start": 291,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861813.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "NM_001375467.2",
"protein_id": "NP_001362396.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 206,
"cds_start": 276,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375467.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000861809.1",
"protein_id": "ENSP00000531868.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 206,
"cds_start": 276,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861809.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000913544.1",
"protein_id": "ENSP00000583603.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 206,
"cds_start": 276,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913544.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "ENST00000913548.1",
"protein_id": "ENSP00000583607.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 206,
"cds_start": 276,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913548.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Ser97Ser",
"transcript": "NM_001375468.2",
"protein_id": "NP_001362397.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 150,
"cds_start": 291,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375468.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.276G>C",
"hgvs_p": "p.Ser92Ser",
"transcript": "NM_001375469.2",
"protein_id": "NP_001362398.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 145,
"cds_start": 276,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375469.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.249G>C",
"hgvs_p": "p.Ser83Ser",
"transcript": "ENST00000599576.5",
"protein_id": "ENSP00000471436.1",
"transcript_support_level": 3,
"aa_start": 83,
"aa_end": null,
"aa_length": 112,
"cds_start": 249,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599576.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Ser97Ser",
"transcript": "XM_006722725.4",
"protein_id": "XP_006722788.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 211,
"cds_start": 291,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722725.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.166+1424G>C",
"hgvs_p": null,
"transcript": "ENST00000913549.1",
"protein_id": "ENSP00000583608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": null,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "c.27-2359G>C",
"hgvs_p": null,
"transcript": "ENST00000968745.1",
"protein_id": "ENSP00000638804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "n.164G>C",
"hgvs_p": null,
"transcript": "ENST00000597889.1",
"protein_id": "ENSP00000468935.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000597889.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"hgvs_c": "n.360G>C",
"hgvs_p": null,
"transcript": "NR_110316.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110316.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289254",
"gene_hgnc_id": null,
"hgvs_c": "n.145-5868C>G",
"hgvs_p": null,
"transcript": "ENST00000691552.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000691552.2"
}
],
"gene_symbol": "NMRK2",
"gene_hgnc_id": 17871,
"dbsnp": "rs767104105",
"frequency_reference_population": 0.0000018611877,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84971e-7,
"gnomad_genomes_af": 0.0000131615,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.185,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001289117.2",
"gene_symbol": "NMRK2",
"hgnc_id": 17871,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.291G>C",
"hgvs_p": "p.Ser97Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000691552.2",
"gene_symbol": "ENSG00000289254",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.145-5868C>G",
"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
}