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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: 15-43647444-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43647444&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43647444,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000396879.8",
"consequences": [
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "c.169G>A",
"hgvs_p": "p.Val57Ile",
"transcript": "NM_172095.4",
"protein_id": "NP_742093.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 530,
"cds_start": 169,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": "ENST00000396879.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "c.169G>A",
"hgvs_p": "p.Val57Ile",
"transcript": "ENST00000396879.8",
"protein_id": "ENSP00000380088.3",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 530,
"cds_start": 169,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": "NM_172095.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "ENST00000381761.6",
"protein_id": "ENSP00000371180.1",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 534,
"cds_start": 187,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1755,
"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": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "n.390G>A",
"hgvs_p": null,
"transcript": "ENST00000415968.2",
"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": 1684,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "n.169G>A",
"hgvs_p": null,
"transcript": "ENST00000433380.5",
"protein_id": "ENSP00000389746.1",
"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": 1468,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "n.195G>A",
"hgvs_p": null,
"transcript": "ENST00000464721.5",
"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": 290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Val63Ile",
"transcript": "NM_001282310.2",
"protein_id": "NP_001269239.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 534,
"cds_start": 187,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "c.169G>A",
"hgvs_p": "p.Val57Ile",
"transcript": "NM_001282309.3",
"protein_id": "NP_001269238.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 528,
"cds_start": 169,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "c.169G>A",
"hgvs_p": "p.Val57Ile",
"transcript": "ENST00000321596.6",
"protein_id": "ENSP00000321463.5",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 528,
"cds_start": 169,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "c.169G>A",
"hgvs_p": "p.Val57Ile",
"transcript": "ENST00000432420.5",
"protein_id": "ENSP00000407694.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 78,
"cds_start": 169,
"cds_end": null,
"cds_length": 239,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "c.169G>A",
"hgvs_p": "p.Val57Ile",
"transcript": "ENST00000409481.1",
"protein_id": "ENSP00000386595.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 63,
"cds_start": 169,
"cds_end": null,
"cds_length": 193,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 568,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "n.420G>A",
"hgvs_p": null,
"transcript": "ENST00000469461.6",
"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": 4617,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"hgvs_c": "n.171G>A",
"hgvs_p": null,
"transcript": "NR_110319.1",
"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": 1516,
"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": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIP5K1P1-CATSPER2",
"gene_hgnc_id": null,
"hgvs_c": "n.3819G>A",
"hgvs_p": null,
"transcript": "NR_146339.1",
"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": 5282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CATSPER2",
"gene_hgnc_id": 18810,
"dbsnp": "rs8042868",
"frequency_reference_population": 0.11401182,
"hom_count_reference_population": 14243,
"allele_count_reference_population": 183868,
"gnomad_exomes_af": 0.110446,
"gnomad_genomes_af": 0.14836,
"gnomad_exomes_ac": 161366,
"gnomad_genomes_ac": 22502,
"gnomad_exomes_homalt": 11998,
"gnomad_genomes_homalt": 2245,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005768895149230957,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.0942,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.477,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000396879.8",
"gene_symbol": "CATSPER2",
"hgnc_id": 18810,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.169G>A",
"hgvs_p": "p.Val57Ile"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_146339.1",
"gene_symbol": "PPIP5K1P1-CATSPER2",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3819G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}