← 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: 3-129290775-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129290775&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 129290775,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020187.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "NM_020187.3",
"protein_id": "NP_064572.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": "ENST00000383463.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020187.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000383463.9",
"protein_id": "ENSP00000372955.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": "NM_020187.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383463.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000389735.7",
"protein_id": "ENSP00000374385.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389735.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000502878.6",
"protein_id": "ENSP00000426215.1",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502878.6"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.327+1778A>G",
"hgvs_p": null,
"transcript": "ENST00000417226.6",
"protein_id": "ENSP00000392966.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417226.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Ile148Val",
"transcript": "ENST00000857376.1",
"protein_id": "ENSP00000527435.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 360,
"cds_start": 442,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857376.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Ile148Val",
"transcript": "ENST00000857380.1",
"protein_id": "ENSP00000527439.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 360,
"cds_start": 442,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857380.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Ile148Val",
"transcript": "ENST00000949829.1",
"protein_id": "ENSP00000619888.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 360,
"cds_start": 442,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949829.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "NM_001006109.1",
"protein_id": "NP_001006109.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006109.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "NM_001370343.1",
"protein_id": "NP_001357272.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370343.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "NM_001370344.1",
"protein_id": "NP_001357273.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370344.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000857375.1",
"protein_id": "ENSP00000527434.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857375.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000857381.1",
"protein_id": "ENSP00000527440.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857381.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000857382.1",
"protein_id": "ENSP00000527441.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857382.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000857387.1",
"protein_id": "ENSP00000527446.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857387.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000857389.1",
"protein_id": "ENSP00000527448.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857389.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000949828.1",
"protein_id": "ENSP00000619887.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 354,
"cds_start": 424,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949828.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000928763.1",
"protein_id": "ENSP00000598822.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 353,
"cds_start": 424,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928763.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Ile94Val",
"transcript": "NM_001370345.1",
"protein_id": "NP_001357274.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 306,
"cds_start": 280,
"cds_end": null,
"cds_length": 921,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370345.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Ile94Val",
"transcript": "ENST00000857384.1",
"protein_id": "ENSP00000527443.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 306,
"cds_start": 280,
"cds_end": null,
"cds_length": 921,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857384.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Ile94Val",
"transcript": "ENST00000857388.1",
"protein_id": "ENSP00000527447.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 306,
"cds_start": 280,
"cds_end": null,
"cds_length": 921,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857388.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Ile94Val",
"transcript": "ENST00000509042.5",
"protein_id": "ENSP00000423132.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 281,
"cds_start": 280,
"cds_end": null,
"cds_length": 847,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509042.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000509551.5",
"protein_id": "ENSP00000424594.1",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 232,
"cds_start": 424,
"cds_end": null,
"cds_length": 700,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509551.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val",
"transcript": "ENST00000928764.1",
"protein_id": "ENSP00000598823.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 229,
"cds_start": 424,
"cds_end": null,
"cds_length": 690,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928764.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.345+1778A>G",
"hgvs_p": null,
"transcript": "ENST00000857383.1",
"protein_id": "ENSP00000527442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857383.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.327+1778A>G",
"hgvs_p": null,
"transcript": "NM_001363881.1",
"protein_id": "NP_001350810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363881.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.327+1778A>G",
"hgvs_p": null,
"transcript": "ENST00000857377.1",
"protein_id": "ENSP00000527436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857377.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.327+1778A>G",
"hgvs_p": null,
"transcript": "ENST00000857378.1",
"protein_id": "ENSP00000527437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857378.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.327+1778A>G",
"hgvs_p": null,
"transcript": "ENST00000857379.1",
"protein_id": "ENSP00000527438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857379.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.327+1778A>G",
"hgvs_p": null,
"transcript": "ENST00000857385.1",
"protein_id": "ENSP00000527444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857385.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.184-7579A>G",
"hgvs_p": null,
"transcript": "ENST00000857386.1",
"protein_id": "ENSP00000527445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857386.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.184-7579A>G",
"hgvs_p": null,
"transcript": "ENST00000928762.1",
"protein_id": "ENSP00000598821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928762.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.184-7579A>G",
"hgvs_p": null,
"transcript": "ENST00000949830.1",
"protein_id": "ENSP00000619889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949830.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.184-7579A>G",
"hgvs_p": null,
"transcript": "ENST00000510314.5",
"protein_id": "ENSP00000426276.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": null,
"cds_end": null,
"cds_length": 550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510314.5"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"hgvs_c": "c.184-7579A>G",
"hgvs_p": null,
"transcript": "ENST00000511665.1",
"protein_id": "ENSP00000421895.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": null,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511665.1"
}
],
"gene_symbol": "HMCES",
"gene_hgnc_id": 24446,
"dbsnp": "rs1449444037",
"frequency_reference_population": 0.0000043388627,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000273764,
"gnomad_genomes_af": 0.0000197088,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38946154713630676,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.1218,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.243,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020187.3",
"gene_symbol": "HMCES",
"hgnc_id": 24446,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Ile142Val"
}
],
"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
}