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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: 7-22978444-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=22978444&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 22978444,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000432176.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.158T>G",
"hgvs_p": "p.Leu53Arg",
"transcript": "NM_032581.4",
"protein_id": "NP_115970.2",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 521,
"cds_start": 158,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 13178,
"mane_select": "ENST00000432176.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.158T>G",
"hgvs_p": "p.Leu53Arg",
"transcript": "ENST00000432176.7",
"protein_id": "ENSP00000403396.2",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 521,
"cds_start": 158,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 13178,
"mane_select": "NM_032581.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.-275T>G",
"hgvs_p": null,
"transcript": "ENST00000440481.6",
"protein_id": "ENSP00000397168.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.158T>G",
"hgvs_p": "p.Leu53Arg",
"transcript": "ENST00000681766.1",
"protein_id": "ENSP00000505161.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 503,
"cds_start": 158,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.158T>G",
"hgvs_p": "p.Leu53Arg",
"transcript": "NM_001363466.2",
"protein_id": "NP_001350395.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 419,
"cds_start": 158,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 13474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.158T>G",
"hgvs_p": "p.Leu53Arg",
"transcript": "ENST00000409923.5",
"protein_id": "ENSP00000386246.1",
"transcript_support_level": 5,
"aa_start": 53,
"aa_end": null,
"aa_length": 419,
"cds_start": 158,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.158T>G",
"hgvs_p": "p.Leu53Arg",
"transcript": "NM_001363467.2",
"protein_id": "NP_001350396.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 406,
"cds_start": 158,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 13393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.158T>G",
"hgvs_p": "p.Leu53Arg",
"transcript": "ENST00000409763.1",
"protein_id": "ENSP00000386624.1",
"transcript_support_level": 2,
"aa_start": 53,
"aa_end": null,
"aa_length": 114,
"cds_start": 158,
"cds_end": null,
"cds_length": 345,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.158T>G",
"hgvs_p": "p.Leu53Arg",
"transcript": "XM_011515589.3",
"protein_id": "XP_011513891.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 521,
"cds_start": 158,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 13050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.158T>G",
"hgvs_p": "p.Leu53Arg",
"transcript": "XM_011515590.3",
"protein_id": "XP_011513892.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 370,
"cds_start": 158,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1501,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "n.349T>G",
"hgvs_p": null,
"transcript": "ENST00000465661.2",
"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": 1276,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "n.248T>G",
"hgvs_p": null,
"transcript": "ENST00000477349.5",
"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": 544,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "n.158T>G",
"hgvs_p": null,
"transcript": "ENST00000679789.1",
"protein_id": "ENSP00000506308.1",
"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": 2866,
"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": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "n.158T>G",
"hgvs_p": null,
"transcript": "ENST00000681079.1",
"protein_id": "ENSP00000506370.1",
"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": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "c.-275T>G",
"hgvs_p": null,
"transcript": "ENST00000679826.1",
"protein_id": "ENSP00000505460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "n.149-1023T>G",
"hgvs_p": null,
"transcript": "ENST00000681237.1",
"protein_id": "ENSP00000505270.1",
"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": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"hgvs_c": "n.154-40T>G",
"hgvs_p": null,
"transcript": "ENST00000681402.1",
"protein_id": "ENSP00000506692.1",
"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": 5935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HYCC1",
"gene_hgnc_id": 24587,
"dbsnp": "rs72549407",
"frequency_reference_population": 0.00003216706,
"hom_count_reference_population": 1,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000321671,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9109687805175781,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.826,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6011,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.507,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000432176.7",
"gene_symbol": "HYCC1",
"hgnc_id": 24587,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.158T>G",
"hgvs_p": "p.Leu53Arg"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}