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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: 1-70415972-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=70415972&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 70415972,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001902.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "NM_001902.6",
"protein_id": "NP_001893.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 405,
"cds_start": 185,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370938.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001902.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000370938.8",
"protein_id": "ENSP00000359976.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 405,
"cds_start": 185,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001902.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370938.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000346806.2",
"protein_id": "ENSP00000311554.2",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 361,
"cds_start": 185,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346806.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000896200.1",
"protein_id": "ENSP00000566259.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 405,
"cds_start": 185,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896200.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000896201.1",
"protein_id": "ENSP00000566260.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 405,
"cds_start": 185,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896201.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000896205.1",
"protein_id": "ENSP00000566264.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 399,
"cds_start": 185,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896205.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000896202.1",
"protein_id": "ENSP00000566261.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 386,
"cds_start": 185,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896202.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "NM_001190463.2",
"protein_id": "NP_001177392.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 373,
"cds_start": 185,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190463.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000411986.6",
"protein_id": "ENSP00000413407.2",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 373,
"cds_start": 185,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411986.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "NM_153742.5",
"protein_id": "NP_714964.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 361,
"cds_start": 185,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153742.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000896203.1",
"protein_id": "ENSP00000566262.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 360,
"cds_start": 185,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896203.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000896206.1",
"protein_id": "ENSP00000566265.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 357,
"cds_start": 185,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896206.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000896204.1",
"protein_id": "ENSP00000566263.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 354,
"cds_start": 185,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896204.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000916100.1",
"protein_id": "ENSP00000586159.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 273,
"cds_start": 185,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916100.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"hgvs_c": "n.329G>A",
"hgvs_p": null,
"transcript": "ENST00000464926.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000464926.1"
}
],
"gene_symbol": "CTH",
"gene_hgnc_id": 2501,
"dbsnp": "rs773744441",
"frequency_reference_population": 0.00005471963,
"hom_count_reference_population": 1,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000570031,
"gnomad_genomes_af": 0.0000328653,
"gnomad_exomes_ac": 83,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.97591632604599,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.915,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9728,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.872,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001902.6",
"gene_symbol": "CTH",
"hgnc_id": 2501,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}