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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: 15-45117274-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=45117274&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 45117274,
"ref": "C",
"alt": "G",
"effect": "stop_gained",
"transcript": "ENST00000323030.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA2",
"gene_hgnc_id": 32698,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Tyr246*",
"transcript": "NM_207581.4",
"protein_id": "NP_997464.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 320,
"cds_start": 738,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": "ENST00000323030.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA2",
"gene_hgnc_id": 32698,
"hgvs_c": "c.738C>G",
"hgvs_p": "p.Tyr246*",
"transcript": "ENST00000323030.6",
"protein_id": "ENSP00000319705.5",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 320,
"cds_start": 738,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": "NM_207581.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA2",
"gene_hgnc_id": 32698,
"hgvs_c": "n.*805C>G",
"hgvs_p": null,
"transcript": "ENST00000491993.2",
"protein_id": "ENSP00000454110.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA2",
"gene_hgnc_id": 32698,
"hgvs_c": "n.*805C>G",
"hgvs_p": null,
"transcript": "ENST00000491993.2",
"protein_id": "ENSP00000454110.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA2",
"gene_hgnc_id": 32698,
"hgvs_c": "c.789C>G",
"hgvs_p": "p.Tyr263*",
"transcript": "XM_017022180.2",
"protein_id": "XP_016877669.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 337,
"cds_start": 789,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA2",
"gene_hgnc_id": 32698,
"hgvs_c": "n.1379C>G",
"hgvs_p": null,
"transcript": "ENST00000350243.10",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*1832G>C",
"hgvs_p": null,
"transcript": "NM_001276266.2",
"protein_id": "NP_001263195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": "ENST00000560572.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*1832G>C",
"hgvs_p": null,
"transcript": "ENST00000560572.6",
"protein_id": "ENSP00000454084.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": "NM_001276266.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*241G>C",
"hgvs_p": null,
"transcript": "ENST00000267803.8",
"protein_id": "ENSP00000267803.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*241G>C",
"hgvs_p": null,
"transcript": "ENST00000430224.6",
"protein_id": "ENSP00000415512.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*241G>C",
"hgvs_p": null,
"transcript": "NM_001276264.2",
"protein_id": "NP_001263193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*241G>C",
"hgvs_p": null,
"transcript": "NM_144565.4",
"protein_id": "NP_653166.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*241G>C",
"hgvs_p": null,
"transcript": "ENST00000559014.5",
"protein_id": "ENSP00000453569.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*241G>C",
"hgvs_p": null,
"transcript": "NM_001276265.1",
"protein_id": "NP_001263194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*241G>C",
"hgvs_p": null,
"transcript": "ENST00000613425.4",
"protein_id": "ENSP00000480154.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*1832G>C",
"hgvs_p": null,
"transcript": "NM_001276267.2",
"protein_id": "NP_001263196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3035,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*1832G>C",
"hgvs_p": null,
"transcript": "NM_001276268.2",
"protein_id": "NP_001263197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
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"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*1832G>C",
"hgvs_p": null,
"transcript": "NM_001384349.1",
"protein_id": "NP_001371278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*1832G>C",
"hgvs_p": null,
"transcript": "ENST00000558996.5",
"protein_id": "ENSP00000454019.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*1832G>C",
"hgvs_p": null,
"transcript": "XM_006720743.4",
"protein_id": "XP_006720806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*1832G>C",
"hgvs_p": null,
"transcript": "XM_006720745.2",
"protein_id": "XP_006720808.1",
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"aa_start": null,
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"aa_length": 343,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*1832G>C",
"hgvs_p": null,
"transcript": "XM_006720746.2",
"protein_id": "XP_006720809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUOXA1",
"gene_hgnc_id": 26507,
"hgvs_c": "c.*1832G>C",
"hgvs_p": null,
"transcript": "XM_006720747.4",
"protein_id": "XP_006720810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
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"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -1.773,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 12,
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"pathogenic_score": 12,
"criteria": [
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],
"verdict": "Pathogenic",
"transcript": "ENST00000323030.6",
"gene_symbol": "DUOXA2",
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"effects": [
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{
"score": 8,
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"verdict": "Likely_pathogenic",
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"gene_symbol": "DUOXA1",
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],
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:2",
"phenotype_combined": "Thyroglobulin synthesis defect|Inborn genetic diseases|Familial thyroid dyshormonogenesis",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}