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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: 20-44114813-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44114813&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 44114813,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020433.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "NM_020433.5",
"protein_id": "NP_065166.2",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 696,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372980.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020433.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000372980.4",
"protein_id": "ENSP00000362071.3",
"transcript_support_level": 5,
"aa_start": 692,
"aa_end": null,
"aa_length": 696,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020433.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372980.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2155G>A",
"hgvs_p": "p.Val719Ile",
"transcript": "ENST00000900331.1",
"protein_id": "ENSP00000570390.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 723,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900331.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Val713Ile",
"transcript": "ENST00000950207.1",
"protein_id": "ENSP00000620266.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 717,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950207.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2092G>A",
"hgvs_p": "p.Val698Ile",
"transcript": "ENST00000950209.1",
"protein_id": "ENSP00000620268.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 702,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950209.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000900328.1",
"protein_id": "ENSP00000570387.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 696,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900328.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000900329.1",
"protein_id": "ENSP00000570388.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 696,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900329.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000900330.1",
"protein_id": "ENSP00000570389.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 696,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900330.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000950203.1",
"protein_id": "ENSP00000620262.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 696,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950203.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000950204.1",
"protein_id": "ENSP00000620263.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 696,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950204.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000950205.1",
"protein_id": "ENSP00000620264.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 696,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950205.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000950206.1",
"protein_id": "ENSP00000620265.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 696,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950206.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000950208.1",
"protein_id": "ENSP00000620267.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 696,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950208.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Val389Ile",
"transcript": "ENST00000950210.1",
"protein_id": "ENSP00000620269.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 393,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950210.1"
}
],
"gene_symbol": "JPH2",
"gene_hgnc_id": 14202,
"dbsnp": "rs917413698",
"frequency_reference_population": 0.000011206463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000962693,
"gnomad_genomes_af": 0.0000263224,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44618159532546997,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.2621,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.336,
"phylop100way_prediction": "Uncertain_significance",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_020433.5",
"gene_symbol": "JPH2",
"hgnc_id": 14202,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD,AD,Unknown,AR",
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile"
}
],
"clinvar_disease": " 2E, dilated,Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy 17,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Cardiovascular phenotype|Cardiomyopathy, dilated, 2E;Hypertrophic cardiomyopathy 17|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}