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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: 4-64309896-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=64309896&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 64309896,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000381210.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Gln",
"transcript": "NM_001010874.5",
"protein_id": "NP_001010874.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 363,
"cds_start": 587,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": "ENST00000381210.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Gln",
"transcript": "ENST00000381210.8",
"protein_id": "ENSP00000370607.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 363,
"cds_start": 587,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": "NM_001010874.5",
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "n.692G>A",
"hgvs_p": null,
"transcript": "ENST00000511356.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Gln",
"transcript": "NM_001363796.1",
"protein_id": "NP_001350725.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 326,
"cds_start": 587,
"cds_end": null,
"cds_length": 981,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Gln",
"transcript": "ENST00000507440.5",
"protein_id": "ENSP00000426043.1",
"transcript_support_level": 5,
"aa_start": 196,
"aa_end": null,
"aa_length": 326,
"cds_start": 587,
"cds_end": null,
"cds_length": 981,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181Gln",
"transcript": "XM_005265662.6",
"protein_id": "XP_005265719.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 348,
"cds_start": 542,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Gln",
"transcript": "XM_005265664.4",
"protein_id": "XP_005265721.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 318,
"cds_start": 587,
"cds_end": null,
"cds_length": 957,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Gln",
"transcript": "XM_005265665.5",
"protein_id": "XP_005265722.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 312,
"cds_start": 587,
"cds_end": null,
"cds_length": 939,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181Gln",
"transcript": "XM_024453961.2",
"protein_id": "XP_024309729.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 311,
"cds_start": 542,
"cds_end": null,
"cds_length": 936,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181Gln",
"transcript": "XM_024453962.2",
"protein_id": "XP_024309730.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 297,
"cds_start": 542,
"cds_end": null,
"cds_length": 894,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Gln",
"transcript": "XM_017007959.3",
"protein_id": "XP_016863448.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 296,
"cds_start": 587,
"cds_end": null,
"cds_length": 891,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1297,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "n.160G>A",
"hgvs_p": null,
"transcript": "ENST00000513125.5",
"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": 733,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"hgvs_c": "n.851G>A",
"hgvs_p": null,
"transcript": "XR_001741192.3",
"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": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TECRL",
"gene_hgnc_id": 27365,
"dbsnp": "rs773204795",
"frequency_reference_population": 0.000024819346,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000253456,
"gnomad_genomes_af": 0.0000197597,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8445656299591064,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.275,
"revel_prediction": "Benign",
"alphamissense_score": 0.269,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4,
"phylop100way_prediction": "Uncertain_significance",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000381210.8",
"gene_symbol": "TECRL",
"hgnc_id": 27365,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Gln"
}
],
"clinvar_disease": "Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 3",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Catecholaminergic polymorphic ventricular tachycardia 3|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}