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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: 15-49283600-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49283600&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49283600,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002044.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "NM_002044.4",
"protein_id": "NP_002035.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 458,
"cds_start": 638,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000560031.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002044.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000560031.6",
"protein_id": "ENSP00000453129.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 458,
"cds_start": 638,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002044.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560031.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Thr202Ile",
"transcript": "ENST00000327171.7",
"protein_id": "ENSP00000316632.3",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 447,
"cds_start": 605,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327171.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "ENST00000968619.1",
"protein_id": "ENSP00000638678.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 463,
"cds_start": 653,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968619.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Ile",
"transcript": "ENST00000968618.1",
"protein_id": "ENSP00000638677.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 457,
"cds_start": 635,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968618.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Thr202Ile",
"transcript": "NM_001001556.3",
"protein_id": "NP_001001556.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 447,
"cds_start": 605,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001556.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "ENST00000909178.1",
"protein_id": "ENSP00000579237.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 436,
"cds_start": 638,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909178.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Thr189Ile",
"transcript": "NM_001289030.2",
"protein_id": "NP_001275959.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 434,
"cds_start": 566,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289030.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Thr189Ile",
"transcript": "NM_001289031.1",
"protein_id": "NP_001275960.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 434,
"cds_start": 566,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289031.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Thr189Ile",
"transcript": "ENST00000396509.6",
"protein_id": "ENSP00000379766.2",
"transcript_support_level": 2,
"aa_start": 189,
"aa_end": null,
"aa_length": 434,
"cds_start": 566,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396509.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Thr189Ile",
"transcript": "ENST00000544523.5",
"protein_id": "ENSP00000440312.1",
"transcript_support_level": 2,
"aa_start": 189,
"aa_end": null,
"aa_length": 434,
"cds_start": 566,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544523.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Thr189Ile",
"transcript": "ENST00000559454.5",
"protein_id": "ENSP00000453133.1",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 434,
"cds_start": 566,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559454.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Thr180Ile",
"transcript": "ENST00000909176.1",
"protein_id": "ENSP00000579235.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 425,
"cds_start": 539,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909176.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Thr179Ile",
"transcript": "ENST00000968617.1",
"protein_id": "ENSP00000638676.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 424,
"cds_start": 536,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968617.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Thr84Ile",
"transcript": "NM_001352047.1",
"protein_id": "NP_001338976.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 329,
"cds_start": 251,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352047.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Thr84Ile",
"transcript": "NM_001352048.2",
"protein_id": "NP_001338977.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 329,
"cds_start": 251,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352048.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Thr156Ile",
"transcript": "ENST00000560138.5",
"protein_id": "ENSP00000452614.1",
"transcript_support_level": 5,
"aa_start": 156,
"aa_end": null,
"aa_length": 208,
"cds_start": 467,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560138.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Thr189Ile",
"transcript": "XM_047432347.1",
"protein_id": "XP_047288303.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 477,
"cds_start": 566,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432347.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Thr189Ile",
"transcript": "XM_047432348.1",
"protein_id": "XP_047288304.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 477,
"cds_start": 566,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432348.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Thr213Ile",
"transcript": "XM_006720461.5",
"protein_id": "XP_006720524.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 458,
"cds_start": 638,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720461.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Thr202Ile",
"transcript": "XM_047432349.1",
"protein_id": "XP_047288305.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 447,
"cds_start": 605,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432349.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Thr189Ile",
"transcript": "XM_024449892.2",
"protein_id": "XP_024305660.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 438,
"cds_start": 566,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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{
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],
"verdict": "Uncertain_significance",
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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
}