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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: 11-108365110-GG-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108365110&ref=GG&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATM",
"hgnc_id": 795,
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_000051.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "C11orf65",
"hgnc_id": 28519,
"hgvs_c": "c.640+20809_640+20810delCCinsAG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001330368.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12915,
"cdna_start": 9029,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000051.4",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000675843.1",
"protein_coding": true,
"protein_id": "NP_000042.3",
"strand": true,
"transcript": "NM_000051.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12915,
"cdna_start": 9029,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675843.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000051.4",
"protein_coding": true,
"protein_id": "ENSP00000501606.1",
"strand": true,
"transcript": "ENST00000675843.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13247,
"cdna_start": 9361,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452508.7",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388058.2",
"strand": true,
"transcript": "ENST00000452508.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 313,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": null,
"cds_end": null,
"cds_length": 942,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000615746.4",
"gene_hgnc_id": 28519,
"gene_symbol": "C11orf65",
"hgvs_c": "c.*2-9002_*2-9001delCCinsAG",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483537.1",
"strand": false,
"transcript": "ENST00000615746.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9287,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 61,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "ENST00000527805.6",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.*3943_*3944delGGinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435747.2",
"strand": true,
"transcript": "ENST00000527805.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9287,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 61,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "ENST00000527805.6",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.*3943_*3944delGGinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435747.2",
"strand": true,
"transcript": "ENST00000527805.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13003,
"cdna_start": 9117,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351834.2",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338763.1",
"strand": true,
"transcript": "NM_001351834.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11233,
"cdna_start": 9185,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000278616.10",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000278616.4",
"strand": true,
"transcript": "ENST00000278616.10",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14216,
"cdna_start": 10330,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601453.3",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469471.2",
"strand": true,
"transcript": "ENST00000601453.3",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9550,
"cdna_start": 9043,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713844.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519149.1",
"strand": true,
"transcript": "ENST00000713844.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3003,
"aa_ref": "W",
"aa_start": 2907,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9692,
"cdna_start": 8860,
"cds_end": null,
"cds_length": 9012,
"cds_start": 8720,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971291.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8720_8721delGGinsCT",
"hgvs_p": "p.Trp2907Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641350.1",
"strand": true,
"transcript": "ENST00000971291.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2984,
"aa_ref": "W",
"aa_start": 2888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12686,
"cdna_start": 8800,
"cds_end": null,
"cds_length": 8955,
"cds_start": 8663,
"consequences": [
"missense_variant"
],
"exon_count": 61,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923922.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8663_8664delGGinsCT",
"hgvs_p": "p.Trp2888Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593981.1",
"strand": true,
"transcript": "ENST00000923922.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13157,
"cdna_start": 9271,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005271562.6",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005271619.2",
"strand": true,
"transcript": "XM_005271562.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13865,
"cdna_start": 9979,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006718843.5",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718906.1",
"strand": true,
"transcript": "XM_006718843.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13953,
"cdna_start": 10067,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542840.4",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541142.1",
"strand": true,
"transcript": "XM_011542840.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13733,
"cdna_start": 9847,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017790.3",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873279.1",
"strand": true,
"transcript": "XM_017017790.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13706,
"cdna_start": 9820,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426975.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282931.1",
"strand": true,
"transcript": "XM_047426975.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "W",
"aa_start": 2960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13245,
"cdna_start": 9359,
"cds_end": null,
"cds_length": 9171,
"cds_start": 8879,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426976.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8879_8880delGGinsCT",
"hgvs_p": "p.Trp2960Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282932.1",
"strand": true,
"transcript": "XM_047426976.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3001,
"aa_ref": "W",
"aa_start": 2905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12750,
"cdna_start": 8864,
"cds_end": null,
"cds_length": 9006,
"cds_start": 8714,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542842.4",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8714_8715delGGinsCT",
"hgvs_p": "p.Trp2905Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541144.1",
"strand": true,
"transcript": "XM_011542842.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3001,
"aa_ref": "W",
"aa_start": 2905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13788,
"cdna_start": 9902,
"cds_end": null,
"cds_length": 9006,
"cds_start": 8714,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426977.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.8714_8715delGGinsCT",
"hgvs_p": "p.Trp2905Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282933.1",
"strand": true,
"transcript": "XM_047426977.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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