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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: 13-110467049-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110467049&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL4A2",
"hgnc_id": 2203,
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001846.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0769,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19112354516983032,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6446,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 5139,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001846.4",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360467.7",
"protein_coding": true,
"protein_id": "NP_001837.2",
"strand": true,
"transcript": "NM_001846.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6446,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 5139,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000360467.7",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001846.4",
"protein_coding": true,
"protein_id": "ENSP00000353654.5",
"strand": true,
"transcript": "ENST00000360467.7",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1739,
"aa_ref": "G",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6345,
"cdna_start": 2418,
"cds_end": null,
"cds_length": 5220,
"cds_start": 2129,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000714399.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2129G>A",
"hgvs_p": "p.Gly710Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519666.1",
"strand": true,
"transcript": "ENST00000714399.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6333,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 5139,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000400163.8",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383027.4",
"strand": true,
"transcript": "ENST00000400163.8",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6221,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 5139,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000907576.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577635.1",
"strand": true,
"transcript": "ENST00000907576.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1707,
"aa_ref": "G",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6092,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 5124,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000907577.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2033G>A",
"hgvs_p": "p.Gly678Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577636.1",
"strand": true,
"transcript": "ENST00000907577.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1699,
"aa_ref": "G",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6254,
"cdna_start": 2329,
"cds_end": null,
"cds_length": 5100,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000907571.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2009G>A",
"hgvs_p": "p.Gly670Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577630.1",
"strand": true,
"transcript": "ENST00000907571.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1663,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6119,
"cdna_start": 2339,
"cds_end": null,
"cds_length": 4992,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000907575.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577634.1",
"strand": true,
"transcript": "ENST00000907575.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1651,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5279,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 4956,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000480609.2",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497080.2",
"strand": true,
"transcript": "ENST00000480609.2",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1644,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6077,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 4935,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000907573.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577632.1",
"strand": true,
"transcript": "ENST00000907573.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1638,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6050,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 4917,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000714396.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519663.1",
"strand": true,
"transcript": "ENST00000714396.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1613,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 2339,
"cds_end": null,
"cds_length": 4842,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000907574.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577633.1",
"strand": true,
"transcript": "ENST00000907574.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5022,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 4410,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000649951.2",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497015.2",
"strand": true,
"transcript": "ENST00000649951.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "G",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5362,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 4212,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000907572.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.1121G>A",
"hgvs_p": "p.Gly374Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577631.1",
"strand": true,
"transcript": "ENST00000907572.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 814,
"aa_ref": "G",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 2346,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2048,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000494852.3",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.2048G>A",
"hgvs_p": "p.Gly683Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497664.2",
"strand": true,
"transcript": "ENST00000494852.3",
"transcript_support_level": 3
},
{
"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": 6363,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 49,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000714397.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "n.2048G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519664.1",
"strand": true,
"transcript": "ENST00000714397.1",
"transcript_support_level": null
},
{
"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": 6547,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 49,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000714398.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "n.2048G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519665.1",
"strand": true,
"transcript": "ENST00000714398.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3803230",
"effect": "missense_variant",
"frequency_reference_population": 6.840872e-7,
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84087e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.651,
"pos": 110467049,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.224,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001846.4"
}
]
}