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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: 11-17474969-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17474969&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17474969,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000352.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "NM_000352.6",
"protein_id": "NP_000343.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1581,
"cds_start": 207,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "ENST00000389817.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "ENST00000389817.8",
"protein_id": "ENSP00000374467.4",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 1581,
"cds_start": 207,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "NM_000352.6",
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.108T>C",
"hgvs_p": null,
"transcript": "ENST00000612903.2",
"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": 439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "NM_001351295.2",
"protein_id": "NP_001338224.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1603,
"cds_start": 207,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "ENST00000644772.1",
"protein_id": "ENSP00000494321.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1603,
"cds_start": 207,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "NM_001287174.3",
"protein_id": "NP_001274103.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1582,
"cds_start": 207,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "ENST00000302539.9",
"protein_id": "ENSP00000303960.4",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 1582,
"cds_start": 207,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "NM_001351296.2",
"protein_id": "NP_001338225.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1581,
"cds_start": 207,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "ENST00000643260.1",
"protein_id": "ENSP00000494450.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1581,
"cds_start": 207,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 4903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "NM_001351297.2",
"protein_id": "NP_001338226.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1580,
"cds_start": 207,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 5305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "ENST00000642271.1",
"protein_id": "ENSP00000493749.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1580,
"cds_start": 207,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "ENST00000646902.1",
"protein_id": "ENSP00000494101.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1570,
"cds_start": 207,
"cds_end": null,
"cds_length": 4713,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "ENST00000683136.1",
"protein_id": "ENSP00000507768.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1542,
"cds_start": 207,
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"cds_length": 4629,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 4819,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "ENST00000684571.1",
"protein_id": "ENSP00000506935.1",
"transcript_support_level": null,
"aa_start": 69,
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"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
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"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro",
"transcript": "ENST00000647015.1",
"protein_id": "ENSP00000495389.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 1498,
"cds_start": 207,
"cds_end": null,
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"cdna_start": 275,
"cdna_end": 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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.276T>C",
"hgvs_p": null,
"transcript": "ENST00000524561.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.220T>C",
"hgvs_p": null,
"transcript": "ENST00000526002.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 1985,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.207T>C",
"hgvs_p": null,
"transcript": "ENST00000527905.5",
"protein_id": "ENSP00000431653.1",
"transcript_support_level": 5,
"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": 4283,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.276T>C",
"hgvs_p": null,
"transcript": "ENST00000528202.6",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "ABCC8",
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"hgvs_c": "n.84T>C",
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"transcript": "ENST00000532728.6",
"protein_id": "ENSP00000495427.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.238T>C",
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"transcript": "ENST00000635881.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.276T>C",
"hgvs_p": null,
"transcript": "ENST00000642611.2",
"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": 6173,
"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": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.189T>C",
"hgvs_p": null,
"transcript": "ENST00000642902.1",
"protein_id": "ENSP00000493601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 4592,
"mane_select": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.613,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_by_gene": [
{
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"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
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"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000352.6",
"gene_symbol": "ABCC8",
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"effects": [
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"inheritance_mode": "AR,AD,Unknown,SD",
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Pro69Pro"
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"clinvar_disease": " 1, 2, familial, permanent neonatal 3, transient neonatal,Diabetes mellitus,Hereditary hyperinsulinism,Hyperinsulinemia,Hyperinsulinemic hypoglycemia,Leucine-induced hypoglycemia,Permanent neonatal diabetes mellitus,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:12",
"phenotype_combined": "not specified|Hyperinsulinemic hypoglycemia, familial, 1|Permanent neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2|not provided|Leucine-induced hypoglycemia|Diabetes mellitus, permanent neonatal 3|Hereditary hyperinsulinism|Hyperinsulinemia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}