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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: 3-52799789-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52799789&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52799789,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000449956.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "NM_002217.4",
"protein_id": "NP_002208.3",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 890,
"cds_start": 943,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": "ENST00000449956.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "ENST00000449956.3",
"protein_id": "ENSP00000415769.2",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 890,
"cds_start": 943,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": "NM_002217.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "NM_001392019.1",
"protein_id": "NP_001378948.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 927,
"cds_start": 943,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "ENST00000703834.1",
"protein_id": "ENSP00000515492.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 927,
"cds_start": 943,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "NM_001392020.1",
"protein_id": "NP_001378949.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 924,
"cds_start": 943,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "NM_001392021.1",
"protein_id": "NP_001378950.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 898,
"cds_start": 943,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "NM_001392022.1",
"protein_id": "NP_001378951.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 887,
"cds_start": 943,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.922C>G",
"hgvs_p": "p.Gln308Glu",
"transcript": "NM_001392023.1",
"protein_id": "NP_001378952.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 883,
"cds_start": 922,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "NM_001392024.1",
"protein_id": "NP_001378953.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 879,
"cds_start": 943,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "NM_001392025.1",
"protein_id": "NP_001378954.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 876,
"cds_start": 943,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "NM_001392026.1",
"protein_id": "NP_001378955.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 828,
"cds_start": 943,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "NM_001392027.1",
"protein_id": "NP_001378956.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 698,
"cds_start": 943,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu",
"transcript": "ENST00000416872.6",
"protein_id": "ENSP00000413922.2",
"transcript_support_level": 2,
"aa_start": 315,
"aa_end": null,
"aa_length": 698,
"cds_start": 943,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2220,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "n.442C>G",
"hgvs_p": null,
"transcript": "ENST00000463893.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 529,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"hgvs_c": "n.467C>G",
"hgvs_p": null,
"transcript": "ENST00000465243.6",
"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": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITIH3",
"gene_hgnc_id": 6168,
"dbsnp": "rs3617",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09588426351547241,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.0739,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.771,
"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": 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": "ENST00000449956.3",
"gene_symbol": "ITIH3",
"hgnc_id": 6168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.943C>G",
"hgvs_p": "p.Gln315Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}