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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: 11-31433506-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31433506&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31433506,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144981.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "NM_001304274.2",
"protein_id": "NP_001291203.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000532287.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304274.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000532287.6",
"protein_id": "ENSP00000435576.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001304274.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532287.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "NM_144981.3",
"protein_id": "NP_659418.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144981.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000278200.5",
"protein_id": "ENSP00000278200.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278200.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000873558.1",
"protein_id": "ENSP00000543617.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873558.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000873559.1",
"protein_id": "ENSP00000543618.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873559.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000873560.1",
"protein_id": "ENSP00000543619.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873560.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000873561.1",
"protein_id": "ENSP00000543620.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873561.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000873563.1",
"protein_id": "ENSP00000543622.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873563.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000873564.1",
"protein_id": "ENSP00000543623.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873564.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000873565.1",
"protein_id": "ENSP00000543624.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873565.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000922651.1",
"protein_id": "ENSP00000592710.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922651.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "ENST00000946558.1",
"protein_id": "ENSP00000616617.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946558.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"transcript": "ENST00000526776.5",
"protein_id": "ENSP00000434280.1",
"transcript_support_level": 3,
"aa_start": 57,
"aa_end": null,
"aa_length": 94,
"cds_start": 170,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526776.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"transcript": "ENST00000873562.1",
"protein_id": "ENSP00000543621.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 94,
"cds_start": 170,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873562.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"transcript": "ENST00000922648.1",
"protein_id": "ENSP00000592707.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 94,
"cds_start": 170,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922648.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"transcript": "ENST00000922649.1",
"protein_id": "ENSP00000592708.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 94,
"cds_start": 170,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922649.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"transcript": "ENST00000922650.1",
"protein_id": "ENSP00000592709.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 94,
"cds_start": 170,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922650.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"transcript": "ENST00000922652.1",
"protein_id": "ENSP00000592711.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 94,
"cds_start": 170,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922652.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Tyr20Cys",
"transcript": "ENST00000533642.1",
"protein_id": "ENSP00000432471.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 57,
"cds_start": 59,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533642.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Tyr20Cys",
"transcript": "ENST00000534812.5",
"protein_id": "ENSP00000432673.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 57,
"cds_start": 59,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534812.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Tyr129Cys",
"transcript": "XM_005252812.4",
"protein_id": "XP_005252869.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 166,
"cds_start": 386,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
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{
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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
}