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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: 8-144851323-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144851323&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144851323,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000305103.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_014066.4",
"protein_id": "NP_054785.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 224,
"cds_start": 16,
"cds_end": null,
"cds_length": 675,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": "ENST00000305103.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000305103.4",
"protein_id": "ENSP00000304544.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 224,
"cds_start": 16,
"cds_end": null,
"cds_length": 675,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": "NM_014066.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000402718.4",
"protein_id": "ENSP00000385793.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 224,
"cds_start": 16,
"cds_end": null,
"cds_length": 675,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000450361.2",
"protein_id": "ENSP00000394331.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 224,
"cds_start": 16,
"cds_end": null,
"cds_length": 675,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_001081003.3",
"protein_id": "NP_001074472.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 224,
"cds_start": 16,
"cds_end": null,
"cds_length": 675,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_001081004.3",
"protein_id": "NP_001074473.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 224,
"cds_start": 16,
"cds_end": null,
"cds_length": 675,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 1276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_001287237.2",
"protein_id": "NP_001274166.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 224,
"cds_start": 16,
"cds_end": null,
"cds_length": 675,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000543949.2",
"protein_id": "ENSP00000445840.2",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 224,
"cds_start": 16,
"cds_end": null,
"cds_length": 675,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000529143.1",
"protein_id": "ENSP00000435552.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 170,
"cds_start": 16,
"cds_end": null,
"cds_length": 514,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000533270.1",
"protein_id": "ENSP00000433758.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 170,
"cds_start": 16,
"cds_end": null,
"cds_length": 513,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 848,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "n.258G>A",
"hgvs_p": null,
"transcript": "XR_002956628.2",
"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": 4799,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "n.258G>A",
"hgvs_p": null,
"transcript": "XR_002956629.2",
"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": 1281,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "n.129G>A",
"hgvs_p": null,
"transcript": "XR_007060730.1",
"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": 1152,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "n.283G>A",
"hgvs_p": null,
"transcript": "XR_007060731.1",
"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,
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"cdna_length": 1306,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "n.283G>A",
"hgvs_p": null,
"transcript": "XR_428379.4",
"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": 4824,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "n.129G>A",
"hgvs_p": null,
"transcript": "XR_928321.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4670,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "n.742G>A",
"hgvs_p": null,
"transcript": "XR_928323.4",
"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": 5283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"hgvs_c": "n.-150G>A",
"hgvs_p": null,
"transcript": "ENST00000530332.1",
"protein_id": "ENSP00000436382.1",
"transcript_support_level": 2,
"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": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COMMD5",
"gene_hgnc_id": 17902,
"dbsnp": "rs1209879",
"frequency_reference_population": 0.34601557,
"hom_count_reference_population": 100539,
"allele_count_reference_population": 556447,
"gnomad_exomes_af": 0.352732,
"gnomad_genomes_af": 0.281695,
"gnomad_exomes_ac": 513617,
"gnomad_genomes_ac": 42830,
"gnomad_exomes_homalt": 93377,
"gnomad_genomes_homalt": 7162,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0006051063537597656,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.0811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.5,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000305103.4",
"gene_symbol": "COMMD5",
"hgnc_id": 17902,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}