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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: 14-61720408-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61720408&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 61720408,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000337138.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.62A>T",
"hgvs_p": "p.Lys21Met",
"transcript": "NM_001530.4",
"protein_id": "NP_001521.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 826,
"cds_start": 62,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": "ENST00000337138.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.62A>T",
"hgvs_p": "p.Lys21Met",
"transcript": "ENST00000337138.9",
"protein_id": "ENSP00000338018.4",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 826,
"cds_start": 62,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": "NM_001530.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.134A>T",
"hgvs_p": "p.Lys45Met",
"transcript": "ENST00000539097.2",
"protein_id": "ENSP00000437955.1",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 850,
"cds_start": 134,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.65A>T",
"hgvs_p": "p.Lys22Met",
"transcript": "ENST00000394997.5",
"protein_id": "ENSP00000378446.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 827,
"cds_start": 65,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.62A>T",
"hgvs_p": "p.Lys21Met",
"transcript": "ENST00000323441.10",
"protein_id": "ENSP00000323326.6",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 735,
"cds_start": 62,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 3555,
"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": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "n.363A>T",
"hgvs_p": null,
"transcript": "ENST00000557538.5",
"protein_id": null,
"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": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.134A>T",
"hgvs_p": "p.Lys45Met",
"transcript": "NM_001243084.2",
"protein_id": "NP_001230013.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 850,
"cds_start": 134,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "c.62A>T",
"hgvs_p": "p.Lys21Met",
"transcript": "NM_181054.3",
"protein_id": "NP_851397.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 735,
"cds_start": 62,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 3819,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "n.79A>T",
"hgvs_p": null,
"transcript": "ENST00000557206.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.434T>A",
"hgvs_p": null,
"transcript": "ENST00000698327.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "n.328-1101A>T",
"hgvs_p": null,
"transcript": "ENST00000553999.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.280-3391T>A",
"hgvs_p": null,
"transcript": "ENST00000554254.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A",
"gene_hgnc_id": 4910,
"hgvs_c": "n.328-1101A>T",
"hgvs_p": null,
"transcript": "ENST00000557446.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.216-6406T>A",
"hgvs_p": null,
"transcript": "ENST00000660325.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.37-3391T>A",
"hgvs_p": null,
"transcript": "ENST00000698324.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.215-3391T>A",
"hgvs_p": null,
"transcript": "ENST00000698325.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.158-3396T>A",
"hgvs_p": null,
"transcript": "ENST00000698331.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.96-3391T>A",
"hgvs_p": null,
"transcript": "ENST00000698332.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.159-6406T>A",
"hgvs_p": null,
"transcript": "ENST00000698333.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.173-3396T>A",
"hgvs_p": null,
"transcript": "ENST00000698334.1",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.154-21765T>A",
"hgvs_p": null,
"transcript": "ENST00000715697.1",
"protein_id": null,
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"aa_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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.214+30477T>A",
"hgvs_p": null,
"transcript": "ENST00000733788.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIF1A-AS3",
"gene_hgnc_id": null,
"hgvs_c": "n.218-6406T>A",
"hgvs_p": null,
"transcript": "ENST00000733789.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.488,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9739,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "ENST00000337138.9",
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"effects": [
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"inheritance_mode": "AD",
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"hgvs_p": "p.Lys21Met"
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{
"score": 2,
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"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "ENST00000698327.2",
"gene_symbol": "HIF1A-AS3",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "n.434T>A",
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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
}