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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: 22-21682490-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=21682490&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 21682490,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_148176.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "NM_014337.4",
"protein_id": "NP_055152.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398831.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014337.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000398831.8",
"protein_id": "ENSP00000381812.3",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014337.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398831.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000626352.2",
"protein_id": "ENSP00000486725.1",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 527,
"cds_start": 441,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626352.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000335025.12",
"protein_id": "ENSP00000334553.7",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335025.12"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000406385.1",
"protein_id": "ENSP00000384299.1",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "n.1135C>A",
"hgvs_p": null,
"transcript": "ENST00000496819.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000496819.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000680094.1",
"protein_id": "ENSP00000506368.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 614,
"cds_start": 441,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680094.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000681338.1",
"protein_id": "ENSP00000505107.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 573,
"cds_start": 441,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681338.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000679477.1",
"protein_id": "ENSP00000505978.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 549,
"cds_start": 441,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679477.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "NM_148176.3",
"protein_id": "NP_680481.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 527,
"cds_start": 441,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148176.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "NM_001317996.2",
"protein_id": "NP_001304925.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317996.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "NM_148175.3",
"protein_id": "NP_680480.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148175.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000679534.1",
"protein_id": "ENSP00000504893.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679534.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000679540.1",
"protein_id": "ENSP00000506328.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679540.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000679795.1",
"protein_id": "ENSP00000506144.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679795.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000680061.1",
"protein_id": "ENSP00000505910.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680061.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000680393.1",
"protein_id": "ENSP00000506542.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680393.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000681956.1",
"protein_id": "ENSP00000506158.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 520,
"cds_start": 441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681956.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "ENST00000679827.1",
"protein_id": "ENSP00000504929.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 510,
"cds_start": 441,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679827.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.378C>A",
"hgvs_p": "p.Asp126Glu",
"transcript": "ENST00000680109.1",
"protein_id": "ENSP00000506219.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 499,
"cds_start": 378,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680109.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "XM_011530041.4",
"protein_id": "XP_011528343.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 616,
"cds_start": 441,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530041.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIL2",
"gene_hgnc_id": 9261,
"hgvs_c": "c.441C>A",
"hgvs_p": "p.Asp147Glu",
"transcript": "XM_011530043.4",
"protein_id": "XP_011528345.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 571,
"cds_start": 441,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530043.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_148176.3",
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"effects": [
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"inheritance_mode": "AR",
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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
}