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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: 13-110491334-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110491334&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 110491334,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000360467.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3448C>T",
"hgvs_p": "p.Gln1150*",
"transcript": "NM_001846.4",
"protein_id": "NP_001837.2",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1712,
"cds_start": 3448,
"cds_end": null,
"cds_length": 5139,
"cdna_start": 3737,
"cdna_end": null,
"cdna_length": 6446,
"mane_select": "ENST00000360467.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3448C>T",
"hgvs_p": "p.Gln1150*",
"transcript": "ENST00000360467.7",
"protein_id": "ENSP00000353654.5",
"transcript_support_level": 5,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1712,
"cds_start": 3448,
"cds_end": null,
"cds_length": 5139,
"cdna_start": 3737,
"cdna_end": null,
"cdna_length": 6446,
"mane_select": "NM_001846.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3529C>T",
"hgvs_p": "p.Gln1177*",
"transcript": "ENST00000714399.1",
"protein_id": "ENSP00000519666.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1739,
"cds_start": 3529,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 3818,
"cdna_end": null,
"cdna_length": 6345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3448C>T",
"hgvs_p": "p.Gln1150*",
"transcript": "ENST00000400163.8",
"protein_id": "ENSP00000383027.4",
"transcript_support_level": 5,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1712,
"cds_start": 3448,
"cds_end": null,
"cds_length": 5139,
"cdna_start": 3624,
"cdna_end": null,
"cdna_length": 6333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3448C>T",
"hgvs_p": "p.Gln1150*",
"transcript": "ENST00000480609.2",
"protein_id": "ENSP00000497080.2",
"transcript_support_level": 2,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1651,
"cds_start": 3448,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 3737,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3226C>T",
"hgvs_p": "p.Gln1076*",
"transcript": "ENST00000714396.1",
"protein_id": "ENSP00000519663.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1638,
"cds_start": 3226,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 3523,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "c.3448C>T",
"hgvs_p": "p.Gln1150*",
"transcript": "ENST00000649951.2",
"protein_id": "ENSP00000497015.2",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3448,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 3737,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "n.1103C>T",
"hgvs_p": null,
"transcript": "ENST00000650225.1",
"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": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "n.*184C>T",
"hgvs_p": null,
"transcript": "ENST00000714397.1",
"protein_id": "ENSP00000519664.1",
"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": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "n.*1169C>T",
"hgvs_p": null,
"transcript": "ENST00000714398.1",
"protein_id": "ENSP00000519665.1",
"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": 6547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "n.*184C>T",
"hgvs_p": null,
"transcript": "ENST00000714397.1",
"protein_id": "ENSP00000519664.1",
"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": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"hgvs_c": "n.*1169C>T",
"hgvs_p": null,
"transcript": "ENST00000714398.1",
"protein_id": "ENSP00000519665.1",
"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": 6547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL4A2",
"gene_hgnc_id": 2203,
"dbsnp": "rs62621875",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.293,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000360467.7",
"gene_symbol": "COL4A2",
"hgnc_id": 2203,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3448C>T",
"hgvs_p": "p.Gln1150*"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}