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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: 16-56192293-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56192293&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56192293,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020988.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys",
"transcript": "NM_020988.3",
"protein_id": "NP_066268.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 354,
"cds_start": 58,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": "ENST00000262493.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys",
"transcript": "ENST00000262493.12",
"protein_id": "ENSP00000262493.6",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 354,
"cds_start": 58,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": "NM_020988.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys",
"transcript": "ENST00000262494.13",
"protein_id": "ENSP00000262494.7",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 354,
"cds_start": 58,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 6061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys",
"transcript": "ENST00000638705.1",
"protein_id": "ENSP00000491223.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 354,
"cds_start": 58,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys",
"transcript": "NM_138736.3",
"protein_id": "NP_620073.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 354,
"cds_start": 58,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 6061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys",
"transcript": "ENST00000640469.2",
"protein_id": "ENSP00000491875.2",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 354,
"cds_start": 58,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys",
"transcript": "ENST00000568375.3",
"protein_id": "ENSP00000491143.2",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 271,
"cds_start": 58,
"cds_end": null,
"cds_length": 816,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys",
"transcript": "ENST00000563661.2",
"protein_id": "ENSP00000492694.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 104,
"cds_start": 58,
"cds_end": null,
"cds_length": 315,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys",
"transcript": "ENST00000570235.2",
"protein_id": "ENSP00000477740.2",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 84,
"cds_start": 58,
"cds_end": null,
"cds_length": 255,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys",
"transcript": "ENST00000569295.6",
"protein_id": "ENSP00000492271.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 54,
"cds_start": 58,
"cds_end": null,
"cds_length": 165,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 930,
"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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.25G>A",
"hgvs_p": null,
"transcript": "ENST00000639770.1",
"protein_id": "ENSP00000491999.1",
"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": 1515,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.73G>A",
"hgvs_p": null,
"transcript": "ENST00000639966.1",
"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": 926,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.58G>A",
"hgvs_p": null,
"transcript": "ENST00000640893.1",
"protein_id": "ENSP00000492677.1",
"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": 2043,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.58G>A",
"hgvs_p": null,
"transcript": "ENST00000675160.1",
"protein_id": "ENSP00000502403.1",
"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": 2293,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.137G>A",
"hgvs_p": null,
"transcript": "ENST00000714052.1",
"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": 320,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.805G>A",
"hgvs_p": null,
"transcript": "XR_007064866.1",
"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": 5448,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAO1-DT",
"gene_hgnc_id": 27543,
"hgvs_c": "n.1976+250C>T",
"hgvs_p": null,
"transcript": "ENST00000715694.1",
"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": 4458,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAO1-DT",
"gene_hgnc_id": 27543,
"hgvs_c": "n.222+250C>T",
"hgvs_p": null,
"transcript": "ENST00000825388.1",
"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": 924,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNAO1-DT",
"gene_hgnc_id": 27543,
"hgvs_c": "n.212+250C>T",
"hgvs_p": null,
"transcript": "ENST00000825389.1",
"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": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.-200G>A",
"hgvs_p": null,
"transcript": "ENST00000565363.5",
"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": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"dbsnp": "rs2036182701",
"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": 0.8794695734977722,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.842,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9764,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.527,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_020988.3",
"gene_symbol": "GNAO1",
"hgnc_id": 4389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Glu20Lys"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000715694.1",
"gene_symbol": "GNAO1-DT",
"hgnc_id": 27543,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1976+250C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy,Inborn genetic diseases",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Developmental and epileptic encephalopathy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}