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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: 8-73946682-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=73946682&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 73946682,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005648.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "NM_005648.4",
"protein_id": "NP_005639.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000520242.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005648.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000520242.6",
"protein_id": "ENSP00000428171.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005648.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520242.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000518127.5",
"protein_id": "ENSP00000428334.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518127.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Ala80Gly",
"transcript": "ENST00000520210.1",
"protein_id": "ENSP00000430224.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 96,
"cds_start": 239,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520210.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.407C>G",
"hgvs_p": "p.Ala136Gly",
"transcript": "ENST00000927265.1",
"protein_id": "ENSP00000597324.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 152,
"cds_start": 407,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927265.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.407C>G",
"hgvs_p": "p.Ala136Gly",
"transcript": "ENST00000953077.1",
"protein_id": "ENSP00000623136.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 152,
"cds_start": 407,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953077.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.356C>G",
"hgvs_p": "p.Ala119Gly",
"transcript": "ENST00000519487.6",
"protein_id": "ENSP00000429596.2",
"transcript_support_level": 2,
"aa_start": 119,
"aa_end": null,
"aa_length": 135,
"cds_start": 356,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519487.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.350C>G",
"hgvs_p": "p.Ala117Gly",
"transcript": "ENST00000685938.1",
"protein_id": "ENSP00000509885.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 133,
"cds_start": 350,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685938.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "NM_001204857.2",
"protein_id": "NP_001191786.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204857.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "NM_001204858.2",
"protein_id": "NP_001191787.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204858.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "NM_001204859.2",
"protein_id": "NP_001191788.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204859.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "NM_001204860.2",
"protein_id": "NP_001191789.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204860.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "NM_001204861.2",
"protein_id": "NP_001191790.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204861.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "NM_001204862.2",
"protein_id": "NP_001191791.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204862.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000284811.12",
"protein_id": "ENSP00000284811.8",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284811.12"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000522337.5",
"protein_id": "ENSP00000429906.1",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522337.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000523815.5",
"protein_id": "ENSP00000428074.1",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523815.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000622804.2",
"protein_id": "ENSP00000478121.1",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622804.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000687224.1",
"protein_id": "ENSP00000509184.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687224.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000906596.1",
"protein_id": "ENSP00000576655.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906596.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000906597.1",
"protein_id": "ENSP00000576656.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906597.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOC",
"gene_hgnc_id": 11617,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000906598.1",
"protein_id": "ENSP00000576657.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 112,
"cds_start": 287,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906598.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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{
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"BP4",
"BS2"
],
"verdict": "Likely_benign",
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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
}