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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: 17-44195475-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44195475&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44195475,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001382316.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"transcript": "NM_001382309.1",
"protein_id": "NP_001369238.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 347,
"cds_start": 565,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": "ENST00000587097.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382309.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"transcript": "ENST00000587097.6",
"protein_id": "ENSP00000465614.2",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 347,
"cds_start": 565,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1014,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": "NM_001382309.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587097.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Thr196Ala",
"transcript": "ENST00000454077.6",
"protein_id": "ENSP00000397259.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 354,
"cds_start": 586,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454077.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"transcript": "ENST00000389384.8",
"protein_id": "ENSP00000374035.3",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 347,
"cds_start": 565,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389384.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.664A>G",
"hgvs_p": "p.Thr222Ala",
"transcript": "ENST00000962114.1",
"protein_id": "ENSP00000632173.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 380,
"cds_start": 664,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962114.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Thr215Ala",
"transcript": "ENST00000889834.1",
"protein_id": "ENSP00000559893.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 373,
"cds_start": 643,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889834.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.643A>G",
"hgvs_p": "p.Thr215Ala",
"transcript": "ENST00000962115.1",
"protein_id": "ENSP00000632174.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 373,
"cds_start": 643,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 4466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962115.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "NM_001382316.1",
"protein_id": "NP_001369245.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 366,
"cds_start": 622,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382316.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "ENST00000889837.1",
"protein_id": "ENSP00000559896.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 366,
"cds_start": 622,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889837.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Thr208Ala",
"transcript": "ENST00000889839.1",
"protein_id": "ENSP00000559898.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 366,
"cds_start": 622,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889839.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Thr196Ala",
"transcript": "NM_001382308.1",
"protein_id": "NP_001369237.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 354,
"cds_start": 586,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382308.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Thr196Ala",
"transcript": "NM_001382310.1",
"protein_id": "NP_001369239.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 354,
"cds_start": 586,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382310.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Thr196Ala",
"transcript": "NM_001382314.1",
"protein_id": "NP_001369243.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 354,
"cds_start": 586,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382314.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Thr196Ala",
"transcript": "NM_001382315.1",
"protein_id": "NP_001369244.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 354,
"cds_start": 586,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382315.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Thr196Ala",
"transcript": "ENST00000913339.1",
"protein_id": "ENSP00000583398.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 354,
"cds_start": 586,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913339.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.586A>G",
"hgvs_p": "p.Thr196Ala",
"transcript": "ENST00000913343.1",
"protein_id": "ENSP00000583402.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 354,
"cds_start": 586,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913343.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"transcript": "NM_001382311.1",
"protein_id": "NP_001369240.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 347,
"cds_start": 565,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382311.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"transcript": "NM_001382312.1",
"protein_id": "NP_001369241.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 347,
"cds_start": 565,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382312.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"transcript": "NM_001382313.1",
"protein_id": "NP_001369242.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 347,
"cds_start": 565,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382313.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"transcript": "ENST00000889835.1",
"protein_id": "ENSP00000559894.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 347,
"cds_start": 565,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889835.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"transcript": "ENST00000889836.1",
"protein_id": "ENSP00000559895.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 347,
"cds_start": 565,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889836.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3",
"gene_hgnc_id": 25416,
"hgvs_c": "c.565A>G",
"hgvs_p": "p.Thr189Ala",
"transcript": "ENST00000889838.1",
"protein_id": "ENSP00000559897.1",
"transcript_support_level": null,
"aa_start": 189,
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],
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"bayesdelnoaf_score": -0.74,
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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
}