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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: 17-44195447-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44195447&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATXN7L3",
"hgnc_id": 25416,
"hgvs_c": "c.650C>A",
"hgvs_p": "p.Pro217Gln",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001382316.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3492,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3767159581184387,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 347,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1044,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382309.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000587097.6",
"protein_coding": true,
"protein_id": "NP_001369238.1",
"strand": false,
"transcript": "NM_001382309.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 347,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1044,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000587097.6",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382309.1",
"protein_coding": true,
"protein_id": "ENSP00000465614.2",
"strand": false,
"transcript": "ENST00000587097.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 354,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3523,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1065,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000454077.6",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397259.1",
"strand": false,
"transcript": "ENST00000454077.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 347,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1044,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000389384.8",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374035.3",
"strand": false,
"transcript": "ENST00000389384.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 380,
"aa_ref": "P",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3858,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1143,
"cds_start": 692,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962114.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632173.1",
"strand": false,
"transcript": "ENST00000962114.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 373,
"aa_ref": "P",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1122,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889834.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.671C>A",
"hgvs_p": "p.Pro224Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559893.1",
"strand": false,
"transcript": "ENST00000889834.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 373,
"aa_ref": "P",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1122,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962115.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.671C>A",
"hgvs_p": "p.Pro224Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632174.1",
"strand": false,
"transcript": "ENST00000962115.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 366,
"aa_ref": "P",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1101,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382316.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.650C>A",
"hgvs_p": "p.Pro217Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369245.1",
"strand": false,
"transcript": "NM_001382316.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 366,
"aa_ref": "P",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1101,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889837.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.650C>A",
"hgvs_p": "p.Pro217Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559896.1",
"strand": false,
"transcript": "ENST00000889837.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 366,
"aa_ref": "P",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1101,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889839.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.650C>A",
"hgvs_p": "p.Pro217Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559898.1",
"strand": false,
"transcript": "ENST00000889839.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 354,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1065,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382308.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369237.1",
"strand": false,
"transcript": "NM_001382308.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 354,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1065,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382310.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369239.1",
"strand": false,
"transcript": "NM_001382310.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 354,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1065,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382314.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369243.1",
"strand": false,
"transcript": "NM_001382314.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 354,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4400,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1065,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382315.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369244.1",
"strand": false,
"transcript": "NM_001382315.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 354,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1065,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000913339.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583398.1",
"strand": false,
"transcript": "ENST00000913339.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 354,
"aa_ref": "P",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1065,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000913343.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583402.1",
"strand": false,
"transcript": "ENST00000913343.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 347,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1044,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382311.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369240.1",
"strand": false,
"transcript": "NM_001382311.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 347,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4379,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 1044,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382312.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369241.1",
"strand": false,
"transcript": "NM_001382312.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 347,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4133,
"cdna_start": 1224,
"cds_end": null,
"cds_length": 1044,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382313.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369242.1",
"strand": false,
"transcript": "NM_001382313.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 347,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4388,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1044,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889835.1",
"gene_hgnc_id": 25416,
"gene_symbol": "ATXN7L3",
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Pro198Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559894.1",
"strand": false,
"transcript": "ENST00000889835.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 347,
"aa_ref": "P",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3986,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 1044,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889836.1",
"gene_hgnc_id": 25416,
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