← 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: 15-41184047-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41184047&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41184047,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286441.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Met",
"transcript": "NM_001286441.2",
"protein_id": "NP_001273370.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 572,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000458580.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286441.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Met",
"transcript": "ENST00000458580.7",
"protein_id": "ENSP00000415056.2",
"transcript_support_level": 2,
"aa_start": 535,
"aa_end": null,
"aa_length": 572,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286441.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458580.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Val477Met",
"transcript": "ENST00000314992.9",
"protein_id": "ENSP00000321029.5",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 514,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314992.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Val512Met",
"transcript": "NM_001385036.1",
"protein_id": "NP_001371965.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 549,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385036.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Val477Met",
"transcript": "NM_152596.4",
"protein_id": "NP_689809.2",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 514,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152596.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Met",
"transcript": "XM_011521298.3",
"protein_id": "XP_011519600.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 572,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521298.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Met",
"transcript": "XM_011521301.3",
"protein_id": "XP_011519603.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 537,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521301.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1441G>A",
"hgvs_p": "p.Val481Met",
"transcript": "XM_047432209.1",
"protein_id": "XP_047288165.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 518,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432209.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Val477Met",
"transcript": "XM_047432210.1",
"protein_id": "XP_047288166.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 514,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432210.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Val441Met",
"transcript": "XM_011521300.3",
"protein_id": "XP_011519602.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 478,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521300.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Val441Met",
"transcript": "XM_017021970.2",
"protein_id": "XP_016877459.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 478,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021970.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Val441Met",
"transcript": "XM_017021971.2",
"protein_id": "XP_016877460.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 478,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021971.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Val441Met",
"transcript": "XM_047432211.1",
"protein_id": "XP_047288167.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 478,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432211.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Val332Met",
"transcript": "XM_011521302.3",
"protein_id": "XP_011519604.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 369,
"cds_start": 994,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521302.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"hgvs_c": "n.981G>A",
"hgvs_p": null,
"transcript": "ENST00000558881.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000558881.1"
}
],
"gene_symbol": "EXD1",
"gene_hgnc_id": 28507,
"dbsnp": "rs377285853",
"frequency_reference_population": 0.000060715476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 98,
"gnomad_exomes_af": 0.0000636171,
"gnomad_genomes_af": 0.0000328481,
"gnomad_exomes_ac": 93,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.036497533321380615,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0782,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.079,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001286441.2",
"gene_symbol": "EXD1",
"hgnc_id": 28507,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}