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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 18-79919345-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=79919345&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 79919345,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_025078.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Cys149Cys",
"transcript": "NM_025078.5",
"protein_id": "NP_079354.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 271,
"cds_start": 447,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397778.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025078.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Cys149Cys",
"transcript": "ENST00000397778.7",
"protein_id": "ENSP00000380880.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 271,
"cds_start": 447,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025078.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397778.7"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Cys214Cys",
"transcript": "ENST00000954269.1",
"protein_id": "ENSP00000624328.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 336,
"cds_start": 642,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954269.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.639C>T",
"hgvs_p": "p.Cys213Cys",
"transcript": "ENST00000954270.1",
"protein_id": "ENSP00000624329.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 335,
"cds_start": 639,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954270.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.564C>T",
"hgvs_p": "p.Cys188Cys",
"transcript": "ENST00000954268.1",
"protein_id": "ENSP00000624327.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 310,
"cds_start": 564,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954268.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.564C>T",
"hgvs_p": "p.Cys188Cys",
"transcript": "ENST00000954272.1",
"protein_id": "ENSP00000624331.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 310,
"cds_start": 564,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954272.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.528C>T",
"hgvs_p": "p.Cys176Cys",
"transcript": "ENST00000905920.1",
"protein_id": "ENSP00000575979.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 298,
"cds_start": 528,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905920.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Cys174Cys",
"transcript": "ENST00000905913.1",
"protein_id": "ENSP00000575972.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 296,
"cds_start": 522,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905913.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Cys149Cys",
"transcript": "ENST00000905914.1",
"protein_id": "ENSP00000575973.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 271,
"cds_start": 447,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905914.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Cys149Cys",
"transcript": "ENST00000905917.1",
"protein_id": "ENSP00000575976.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 271,
"cds_start": 447,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905917.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Cys149Cys",
"transcript": "ENST00000954271.1",
"protein_id": "ENSP00000624330.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 271,
"cds_start": 447,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954271.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Cys147Cys",
"transcript": "ENST00000905918.1",
"protein_id": "ENSP00000575977.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 269,
"cds_start": 441,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905918.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.393C>T",
"hgvs_p": "p.Cys131Cys",
"transcript": "NM_001146345.2",
"protein_id": "NP_001139817.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 253,
"cds_start": 393,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146345.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.393C>T",
"hgvs_p": "p.Cys131Cys",
"transcript": "ENST00000357575.8",
"protein_id": "ENSP00000350188.3",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 253,
"cds_start": 393,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357575.8"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.393C>T",
"hgvs_p": "p.Cys131Cys",
"transcript": "ENST00000905916.1",
"protein_id": "ENSP00000575975.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 253,
"cds_start": 393,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905916.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.393C>T",
"hgvs_p": "p.Cys131Cys",
"transcript": "ENST00000905919.1",
"protein_id": "ENSP00000575978.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 253,
"cds_start": 393,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905919.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.393C>T",
"hgvs_p": "p.Cys131Cys",
"transcript": "ENST00000922814.1",
"protein_id": "ENSP00000592873.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 253,
"cds_start": 393,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922814.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Cys136Cys",
"transcript": "ENST00000478144.5",
"protein_id": "ENSP00000466491.1",
"transcript_support_level": 3,
"aa_start": 136,
"aa_end": null,
"aa_length": 135,
"cds_start": 408,
"cds_end": null,
"cds_length": 409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478144.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Cys174Cys",
"transcript": "XM_047437828.1",
"protein_id": "XP_047293784.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 296,
"cds_start": 522,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437828.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.Cys156Cys",
"transcript": "XM_047437829.1",
"protein_id": "XP_047293785.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 278,
"cds_start": 468,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437829.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Cys149Cys",
"transcript": "XM_047437830.1",
"protein_id": "XP_047293786.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 271,
"cds_start": 447,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437830.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC66A2",
"gene_hgnc_id": 26188,
"hgvs_c": "c.393C>T",
"hgvs_p": "p.Cys131Cys",
"transcript": "XM_047437831.1",
"protein_id": "XP_047293787.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 253,
"cds_start": 393,
"cds_end": null,
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"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.024,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_025078.5",
"gene_symbol": "SLC66A2",
"hgnc_id": 26188,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Cys149Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}