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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: 3-52818522-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52818522&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52818522,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000266041.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2092C>T",
"hgvs_p": "p.Pro698Ser",
"transcript": "NM_002218.5",
"protein_id": "NP_002209.2",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 930,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": "ENST00000266041.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2092C>T",
"hgvs_p": "p.Pro698Ser",
"transcript": "ENST00000266041.9",
"protein_id": "ENSP00000266041.4",
"transcript_support_level": 1,
"aa_start": 698,
"aa_end": null,
"aa_length": 930,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": "NM_002218.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2107C>T",
"hgvs_p": "p.Pro703Ser",
"transcript": "ENST00000485816.5",
"protein_id": "ENSP00000417824.1",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 935,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.1573C>T",
"hgvs_p": "p.Pro525Ser",
"transcript": "ENST00000441637.2",
"protein_id": "ENSP00000395634.2",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 718,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000243696",
"gene_hgnc_id": null,
"hgvs_c": "n.*3462C>T",
"hgvs_p": null,
"transcript": "ENST00000468472.1",
"protein_id": "ENSP00000422253.1",
"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": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000243696",
"gene_hgnc_id": null,
"hgvs_c": "n.*3462C>T",
"hgvs_p": null,
"transcript": "ENST00000468472.1",
"protein_id": "ENSP00000422253.1",
"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": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2002C>T",
"hgvs_p": "p.Pro668Ser",
"transcript": "NM_001166449.2",
"protein_id": "NP_001159921.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 900,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "c.2002C>T",
"hgvs_p": "p.Pro668Ser",
"transcript": "ENST00000406595.5",
"protein_id": "ENSP00000384425.1",
"transcript_support_level": 2,
"aa_start": 668,
"aa_end": null,
"aa_length": 900,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 2872,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "n.221C>T",
"hgvs_p": null,
"transcript": "ENST00000461966.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 775,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "n.289C>T",
"hgvs_p": null,
"transcript": "ENST00000481977.5",
"protein_id": null,
"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": 581,
"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": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "n.2284C>T",
"hgvs_p": null,
"transcript": "ENST00000491663.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"hgvs_c": "n.*4C>T",
"hgvs_p": null,
"transcript": "ENST00000537897.5",
"protein_id": null,
"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": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITIH4",
"gene_hgnc_id": 6169,
"dbsnp": "rs4687657",
"frequency_reference_population": 0.000029330857,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000317128,
"gnomad_genomes_af": 0.00000658371,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1062701940536499,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.0666,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.33,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000266041.9",
"gene_symbol": "ITIH4",
"hgnc_id": 6169,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2092C>T",
"hgvs_p": "p.Pro698Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000468472.1",
"gene_symbol": "ENSG00000243696",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*3462C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}