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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: 11-108329071-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108329071&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ATM",
"hgnc_id": 795,
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_000051.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "C11orf65",
"hgnc_id": 28519,
"hgvs_c": "c.641-20000T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001330368.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_score": -12,
"allele_count_reference_population": 107,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "11",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Ataxia-telangiectasia syndrome,Familial cancer of breast,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.550000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12915,
"cdna_start": 7290,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_000051.4",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12915,
"cdna_start": 7290,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000675843.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13247,
"cdna_start": 7622,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 64,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000452508.7",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": 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": 47,
"exon_rank_end": null,
"feature": "ENST00000527805.6",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.*2204A>G",
"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": 47,
"exon_rank_end": null,
"feature": "ENST00000527805.6",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "n.*2204A>G",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13003,
"cdna_start": 7378,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 64,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "NM_001351834.2",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11233,
"cdna_start": 7446,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000278616.10",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14216,
"cdna_start": 8591,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 64,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000601453.3",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9550,
"cdna_start": 7304,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 64,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000713844.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3003,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9692,
"cdna_start": 7280,
"cds_end": null,
"cds_length": 9012,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000971291.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 2984,
"aa_ref": "R",
"aa_start": 2308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12686,
"cdna_start": 7061,
"cds_end": null,
"cds_length": 8955,
"cds_start": 6924,
"consequences": [
"synonymous_variant"
],
"exon_count": 61,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000923922.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.6924A>G",
"hgvs_p": "p.Arg2308Arg",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13157,
"cdna_start": 7532,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_005271562.6",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
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"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13865,
"cdna_start": 8240,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_006718843.5",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13953,
"cdna_start": 8328,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 64,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_011542840.4",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13733,
"cdna_start": 8108,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017017790.3",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13706,
"cdna_start": 8081,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 64,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_047426975.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3056,
"aa_ref": "R",
"aa_start": 2380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13245,
"cdna_start": 7620,
"cds_end": null,
"cds_length": 9171,
"cds_start": 7140,
"consequences": [
"synonymous_variant"
],
"exon_count": 64,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_047426976.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.7140A>G",
"hgvs_p": "p.Arg2380Arg",
"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": "R",
"aa_end": null,
"aa_length": 3001,
"aa_ref": "R",
"aa_start": 2325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12750,
"cdna_start": 7125,
"cds_end": null,
"cds_length": 9006,
"cds_start": 6975,
"consequences": [
"synonymous_variant"
],
"exon_count": 62,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_011542842.4",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.6975A>G",
"hgvs_p": "p.Arg2325Arg",
"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": "R",
"aa_end": null,
"aa_length": 3001,
"aa_ref": "R",
"aa_start": 2325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13788,
"cdna_start": 8163,
"cds_end": null,
"cds_length": 9006,
"cds_start": 6975,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_047426977.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.6975A>G",
"hgvs_p": "p.Arg2325Arg",
"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": "R",
"aa_end": null,
"aa_length": 3001,
"aa_ref": "R",
"aa_start": 2325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12838,
"cdna_start": 7213,
"cds_end": null,
"cds_length": 9006,
"cds_start": 6975,
"consequences": [
"synonymous_variant"
],
"exon_count": 63,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_047426978.1",
"gene_hgnc_id": 795,
"gene_symbol": "ATM",
"hgvs_c": "c.6975A>G",
"hgvs_p": "p.Arg2325Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282934.1",
"strand": true,
"transcript": "XM_047426978.1",
"transcript_support_level": null
},
{
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