← Back to variant description
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: 15-45362124-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=45362124&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 45362124,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001482.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "c.1257G>A",
"hgvs_p": "p.Gln419Gln",
"transcript": "NM_001482.3",
"protein_id": "NP_001473.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 423,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": "ENST00000396659.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "c.1257G>A",
"hgvs_p": "p.Gln419Gln",
"transcript": "ENST00000396659.8",
"protein_id": "ENSP00000379895.3",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 423,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": "NM_001482.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "n.2913G>A",
"hgvs_p": null,
"transcript": "ENST00000558362.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "c.1197G>A",
"hgvs_p": "p.Gln399Gln",
"transcript": "ENST00000675701.1",
"protein_id": "ENSP00000502671.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 403,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "c.870G>A",
"hgvs_p": "p.Gln290Gln",
"transcript": "NM_001321015.2",
"protein_id": "NP_001307944.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 294,
"cds_start": 870,
"cds_end": null,
"cds_length": 885,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "c.1416G>A",
"hgvs_p": "p.Gln472Gln",
"transcript": "XM_047432385.1",
"protein_id": "XP_047288341.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 476,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Gln435Gln",
"transcript": "XM_047432386.1",
"protein_id": "XP_047288342.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 439,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "c.1305G>A",
"hgvs_p": "p.Gln435Gln",
"transcript": "XM_047432387.1",
"protein_id": "XP_047288343.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 439,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "c.870G>A",
"hgvs_p": "p.Gln290Gln",
"transcript": "XM_047432388.1",
"protein_id": "XP_047288344.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 294,
"cds_start": 870,
"cds_end": null,
"cds_length": 885,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "n.*219G>A",
"hgvs_p": null,
"transcript": "ENST00000674905.1",
"protein_id": "ENSP00000502176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "n.*157G>A",
"hgvs_p": null,
"transcript": "ENST00000675158.1",
"protein_id": "ENSP00000501737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "n.3806G>A",
"hgvs_p": null,
"transcript": "ENST00000675974.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "n.*1988G>A",
"hgvs_p": null,
"transcript": "ENST00000676090.1",
"protein_id": "ENSP00000501630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "c.*1759G>A",
"hgvs_p": null,
"transcript": "ENST00000675323.1",
"protein_id": "ENSP00000502445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "n.*219G>A",
"hgvs_p": null,
"transcript": "ENST00000674905.1",
"protein_id": "ENSP00000502176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "n.*157G>A",
"hgvs_p": null,
"transcript": "ENST00000675158.1",
"protein_id": "ENSP00000501737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"hgvs_c": "n.*1988G>A",
"hgvs_p": null,
"transcript": "ENST00000676090.1",
"protein_id": "ENSP00000501630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GATM",
"gene_hgnc_id": 4175,
"dbsnp": "rs774881489",
"frequency_reference_population": 0.0000047970702,
"hom_count_reference_population": 1,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479707,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.671,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,PM2_Supporting,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 2,
"pathogenic_score": 1,
"criteria": [
"BP4",
"PM2_Supporting",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001482.3",
"gene_symbol": "GATM",
"hgnc_id": 4175,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1257G>A",
"hgvs_p": "p.Gln419Gln"
}
],
"clinvar_disease": "Arginine:glycine amidinotransferase deficiency,Fanconi renotubular syndrome 1,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not specified|Arginine:glycine amidinotransferase deficiency|Fanconi renotubular syndrome 1;Arginine:glycine amidinotransferase deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}