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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: 2-102172706-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=102172706&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 102172706,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000877.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "NM_000877.4",
"protein_id": "NP_000868.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": "ENST00000410023.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "ENST00000410023.6",
"protein_id": "ENSP00000386380.1",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": "NM_000877.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "ENST00000409929.5",
"protein_id": "ENSP00000386776.1",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 538,
"cds_start": 859,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "NM_001320978.2",
"protein_id": "NP_001307907.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "NM_001320980.2",
"protein_id": "NP_001307909.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 5177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "NM_001320981.2",
"protein_id": "NP_001307910.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "NM_001320982.2",
"protein_id": "NP_001307911.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 5058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "NM_001288706.2",
"protein_id": "NP_001275635.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 538,
"cds_start": 859,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "ENST00000409288.5",
"protein_id": "ENSP00000386478.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 447,
"cds_start": 859,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "ENST00000409329.5",
"protein_id": "ENSP00000387131.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 447,
"cds_start": 859,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "ENST00000424272.5",
"protein_id": "ENSP00000415366.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 447,
"cds_start": 859,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.427A>G",
"hgvs_p": "p.Lys143Glu",
"transcript": "NM_001320983.1",
"protein_id": "NP_001307912.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 425,
"cds_start": 427,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Lys104Glu",
"transcript": "NM_001320984.1",
"protein_id": "NP_001307913.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 386,
"cds_start": 310,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Lys52Glu",
"transcript": "NM_001320985.1",
"protein_id": "NP_001307914.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 334,
"cds_start": 154,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.427A>G",
"hgvs_p": "p.Lys143Glu",
"transcript": "ENST00000428279.5",
"protein_id": "ENSP00000410461.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 427,
"cds_end": null,
"cds_length": 896,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "XM_005263930.4",
"protein_id": "XP_005263987.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "XM_005263934.5",
"protein_id": "XP_005263991.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 5284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "XM_011511115.3",
"protein_id": "XP_011509417.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "XM_011511116.2",
"protein_id": "XP_011509418.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
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"cdna_start": 996,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "XM_011511118.3",
"protein_id": "XP_011509420.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 5180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "XM_047444176.1",
"protein_id": "XP_047300132.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "XM_047444177.1",
"protein_id": "XP_047300133.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 569,
"cds_start": 859,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL1R1",
"gene_hgnc_id": 5993,
"hgvs_c": "c.859A>G",
"hgvs_p": "p.Lys287Glu",
"transcript": "XM_047444178.1",
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}
],
"gene_symbol": "IL1R1",
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"dbsnp": "rs142722712",
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"computational_score_selected": 0.05964750051498413,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.163,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000877.4",
"gene_symbol": "IL1R1",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000428188.2",
"gene_symbol": "IL1R1-AS1",
"hgnc_id": 53898,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.353-9T>C",
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}
],
"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
}