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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: 12-6537813-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6537813&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GAPDH",
"hgnc_id": 4141,
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_002046.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000269968",
"hgnc_id": 58389,
"hgvs_c": "n.403G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000602946.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3415,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3719356954097748,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1285,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1008,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_002046.7",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000229239.10",
"protein_coding": true,
"protein_id": "NP_002037.2",
"strand": true,
"transcript": "NM_002046.7",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1285,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1008,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000229239.10",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002046.7",
"protein_coding": true,
"protein_id": "ENSP00000229239.5",
"strand": true,
"transcript": "ENST00000229239.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1256,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1008,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000396859.5",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380068.1",
"strand": true,
"transcript": "ENST00000396859.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1377,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1008,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001289745.3",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276674.1",
"strand": true,
"transcript": "NM_001289745.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1525,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1008,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001289746.2",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276675.1",
"strand": true,
"transcript": "NM_001289746.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1348,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1008,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000396861.5",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380070.1",
"strand": true,
"transcript": "ENST00000396861.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 815,
"cds_end": null,
"cds_length": 1008,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889643.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559702.1",
"strand": true,
"transcript": "ENST00000889643.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1280,
"cdna_start": 826,
"cds_end": null,
"cds_length": 1008,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889645.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559704.1",
"strand": true,
"transcript": "ENST00000889645.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1300,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1008,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889651.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559710.1",
"strand": true,
"transcript": "ENST00000889651.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 335,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1008,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920777.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590836.1",
"strand": true,
"transcript": "ENST00000920777.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "P",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1273,
"cdna_start": 819,
"cds_end": null,
"cds_length": 996,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889648.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Pro248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559707.1",
"strand": true,
"transcript": "ENST00000889648.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "P",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 963,
"cds_end": null,
"cds_length": 996,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000889652.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Pro248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559711.1",
"strand": true,
"transcript": "ENST00000889652.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 330,
"aa_ref": "P",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1306,
"cdna_start": 851,
"cds_end": null,
"cds_length": 993,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920779.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Pro247Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590838.1",
"strand": true,
"transcript": "ENST00000920779.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 327,
"aa_ref": "P",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1260,
"cdna_start": 831,
"cds_end": null,
"cds_length": 984,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889650.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559709.1",
"strand": true,
"transcript": "ENST00000889650.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 325,
"aa_ref": "P",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1255,
"cdna_start": 801,
"cds_end": null,
"cds_length": 978,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889644.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.725C>G",
"hgvs_p": "p.Pro242Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559703.1",
"strand": true,
"transcript": "ENST00000889644.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 324,
"aa_ref": "P",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1252,
"cdna_start": 798,
"cds_end": null,
"cds_length": 975,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889646.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Pro241Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559705.1",
"strand": true,
"transcript": "ENST00000889646.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 317,
"aa_ref": "P",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1231,
"cdna_start": 777,
"cds_end": null,
"cds_length": 954,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001357943.2",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Pro234Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001344872.1",
"strand": true,
"transcript": "NM_001357943.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 317,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1231,
"cdna_start": 777,
"cds_end": null,
"cds_length": 954,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920791.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Pro234Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590850.1",
"strand": true,
"transcript": "ENST00000920791.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 306,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1198,
"cdna_start": 744,
"cds_end": null,
"cds_length": 921,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920790.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Pro223Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590849.1",
"strand": true,
"transcript": "ENST00000920790.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 303,
"aa_ref": "P",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1189,
"cdna_start": 735,
"cds_end": null,
"cds_length": 912,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889649.1",
"gene_hgnc_id": 4141,
"gene_symbol": "GAPDH",
"hgvs_c": "c.659C>G",
"hgvs_p": "p.Pro220Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559708.1",
"strand": true,
"transcript": "ENST00000889649.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 303,
"aa_ref": "P",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 742,
"cds_end": null,
"cds_length": 912,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 8,
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]
}