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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: 3-119923394-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=119923394&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 119923394,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_002093.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "NM_001146156.2",
"protein_id": "NP_001139628.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 420,
"cds_start": 456,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264235.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146156.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "ENST00000264235.13",
"protein_id": "ENSP00000264235.9",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 420,
"cds_start": 456,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001146156.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264235.13"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "ENST00000316626.6",
"protein_id": "ENSP00000324806.5",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 433,
"cds_start": 456,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316626.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "ENST00000678439.1",
"protein_id": "ENSP00000503868.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 470,
"cds_start": 456,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678439.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "NM_002093.4",
"protein_id": "NP_002084.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 433,
"cds_start": 456,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002093.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "ENST00000899266.1",
"protein_id": "ENSP00000569325.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 415,
"cds_start": 456,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899266.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "ENST00000899265.1",
"protein_id": "ENSP00000569324.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 400,
"cds_start": 456,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899265.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "NM_001354596.2",
"protein_id": "NP_001341525.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 387,
"cds_start": 456,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354596.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "ENST00000650344.2",
"protein_id": "ENSP00000497956.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 387,
"cds_start": 456,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650344.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.129G>T",
"hgvs_p": "p.Thr43Thr",
"transcript": "ENST00000678561.1",
"protein_id": "ENSP00000503494.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 223,
"cds_start": 129,
"cds_end": null,
"cds_length": 673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678561.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.282G>T",
"hgvs_p": "p.Thr94Thr",
"transcript": "ENST00000677878.1",
"protein_id": "ENSP00000503134.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 100,
"cds_start": 282,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677878.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.90G>T",
"hgvs_p": "p.Thr30Thr",
"transcript": "ENST00000679188.1",
"protein_id": "ENSP00000504252.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 68,
"cds_start": 90,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679188.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Thr58Thr",
"transcript": "ENST00000677875.1",
"protein_id": "ENSP00000504503.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 64,
"cds_start": 174,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677875.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.456G>T",
"hgvs_p": "p.Thr152Thr",
"transcript": "XM_006713610.4",
"protein_id": "XP_006713673.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 400,
"cds_start": 456,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713610.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.193-46886G>T",
"hgvs_p": null,
"transcript": "ENST00000678787.1",
"protein_id": "ENSP00000503398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.84+23874G>T",
"hgvs_p": null,
"transcript": "ENST00000678181.1",
"protein_id": "ENSP00000504266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678181.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.85-7220G>T",
"hgvs_p": null,
"transcript": "ENST00000677885.1",
"protein_id": "ENSP00000504148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": null,
"cds_end": null,
"cds_length": 215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677885.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "c.84+23874G>T",
"hgvs_p": null,
"transcript": "ENST00000679066.1",
"protein_id": "ENSP00000503626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679066.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "n.282G>T",
"hgvs_p": null,
"transcript": "ENST00000676566.1",
"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": "ENST00000676566.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "n.90G>T",
"hgvs_p": null,
"transcript": "ENST00000676723.1",
"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": "ENST00000676723.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "n.*172G>T",
"hgvs_p": null,
"transcript": "ENST00000676775.1",
"protein_id": "ENSP00000503611.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000676775.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSK3B",
"gene_hgnc_id": 4617,
"hgvs_c": "n.*133G>T",
"hgvs_p": null,
"transcript": "ENST00000677169.1",
"protein_id": "ENSP00000503107.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000677169.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"BP4",
"BP7"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}