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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: 1-67386652-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=67386652&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 67386652,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000674203.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "NM_001374259.2",
"protein_id": "NP_001361188.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 862,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 5443,
"mane_select": "ENST00000674203.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "ENST00000674203.2",
"protein_id": "ENSP00000501329.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 862,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 5443,
"mane_select": "NM_001374259.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "ENST00000262345.5",
"protein_id": "ENSP00000262345.1",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 862,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1671G>A",
"hgvs_p": "p.Thr557Thr",
"transcript": "ENST00000544434.5",
"protein_id": "ENSP00000442443.1",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 776,
"cds_start": 1671,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1597+6529G>A",
"hgvs_p": null,
"transcript": "ENST00000541374.6",
"protein_id": "ENSP00000445276.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "NM_001559.3",
"protein_id": "NP_001550.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 862,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "ENST00000648487.1",
"protein_id": "ENSP00000497959.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 862,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 3773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1671G>A",
"hgvs_p": "p.Thr557Thr",
"transcript": "NM_001258215.1",
"protein_id": "NP_001245144.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 776,
"cds_start": 1671,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "NM_001258214.1",
"protein_id": "NP_001245143.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 659,
"cds_start": 1929,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2657,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "NM_001319233.1",
"protein_id": "NP_001306162.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 659,
"cds_start": 1929,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "ENST00000371000.5",
"protein_id": "ENSP00000360039.1",
"transcript_support_level": 2,
"aa_start": 643,
"aa_end": null,
"aa_length": 659,
"cds_start": 1929,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "ENST00000696757.1",
"protein_id": "ENSP00000512854.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 659,
"cds_start": 1929,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "XM_005270827.3",
"protein_id": "XP_005270884.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 862,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "XM_005270828.4",
"protein_id": "XP_005270885.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 862,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 5860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "XM_011541383.3",
"protein_id": "XP_011539685.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 862,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Thr590Thr",
"transcript": "XM_011541384.3",
"protein_id": "XP_011539686.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 809,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 5793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Thr590Thr",
"transcript": "XM_047419665.1",
"protein_id": "XP_047275621.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 809,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 5705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Thr590Thr",
"transcript": "XM_047419666.1",
"protein_id": "XP_047275622.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 809,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1671G>A",
"hgvs_p": "p.Thr557Thr",
"transcript": "XM_006710617.3",
"protein_id": "XP_006710680.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 776,
"cds_start": 1671,
"cds_end": null,
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"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 5694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1671G>A",
"hgvs_p": "p.Thr557Thr",
"transcript": "XM_047419667.1",
"protein_id": "XP_047275623.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 776,
"cds_start": 1671,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "XM_017001203.2",
"protein_id": "XP_016856692.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 659,
"cds_start": 1929,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 5764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Thr643Thr",
"transcript": "XM_047419668.1",
"protein_id": "XP_047275624.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 659,
"cds_start": 1929,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 5760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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}
],
"gene_symbol": "IL12RB2",
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"computational_score_selected": -0.75,
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.599,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.18,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000674203.2",
"gene_symbol": "IL12RB2",
"hgnc_id": 5972,
"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}