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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: 6-33417521-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33417521&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33417521,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001014840.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Val73Ile",
"transcript": "NM_001014840.2",
"protein_id": "NP_001014840.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 179,
"cds_start": 217,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000488034.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014840.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Val73Ile",
"transcript": "ENST00000488034.6",
"protein_id": "ENSP00000417544.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 179,
"cds_start": 217,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001014840.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488034.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Ile",
"transcript": "ENST00000374500.10",
"protein_id": "ENSP00000363624.6",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 156,
"cds_start": 148,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374500.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Ile",
"transcript": "ENST00000440279.7",
"protein_id": "ENSP00000403268.2",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 156,
"cds_start": 148,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440279.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Ile",
"transcript": "ENST00000607266.5",
"protein_id": "ENSP00000475963.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 156,
"cds_start": 148,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607266.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "n.523G>A",
"hgvs_p": null,
"transcript": "ENST00000462802.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000462802.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "n.*178G>A",
"hgvs_p": null,
"transcript": "ENST00000482684.5",
"protein_id": "ENSP00000417823.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000482684.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "n.*178G>A",
"hgvs_p": null,
"transcript": "ENST00000482684.5",
"protein_id": "ENSP00000417823.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000482684.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Val73Ile",
"transcript": "ENST00000879000.1",
"protein_id": "ENSP00000549059.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 179,
"cds_start": 217,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879000.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Ile",
"transcript": "NM_001014433.3",
"protein_id": "NP_001014433.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 156,
"cds_start": 148,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014433.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Ile",
"transcript": "NM_001014837.2",
"protein_id": "NP_001014837.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 156,
"cds_start": 148,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014837.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Ile",
"transcript": "NM_001014838.2",
"protein_id": "NP_001014838.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 156,
"cds_start": 148,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014838.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Ile",
"transcript": "NM_015921.3",
"protein_id": "NP_057005.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 156,
"cds_start": 148,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015921.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Ile",
"transcript": "ENST00000374496.3",
"protein_id": "ENSP00000363620.3",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 156,
"cds_start": 148,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374496.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Val73Ile",
"transcript": "ENST00000488478.5",
"protein_id": "ENSP00000418612.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 155,
"cds_start": 217,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488478.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Val50Ile",
"transcript": "ENST00000494751.5",
"protein_id": "ENSP00000418659.1",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 135,
"cds_start": 148,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494751.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "n.229G>A",
"hgvs_p": null,
"transcript": "ENST00000374484.8",
"protein_id": "ENSP00000363608.4",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000374484.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "n.369G>A",
"hgvs_p": null,
"transcript": "ENST00000465956.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000465956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "n.23G>A",
"hgvs_p": null,
"transcript": "ENST00000479249.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000479249.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"hgvs_c": "n.588G>A",
"hgvs_p": null,
"transcript": "ENST00000487637.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000487637.1"
}
],
"gene_symbol": "CUTA",
"gene_hgnc_id": 21101,
"dbsnp": "rs139820365",
"frequency_reference_population": 0.00004646863,
"hom_count_reference_population": 0,
"allele_count_reference_population": 75,
"gnomad_exomes_af": 0.0000485675,
"gnomad_genomes_af": 0.0000262971,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17515769600868225,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.1929,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.384,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001014840.2",
"gene_symbol": "CUTA",
"hgnc_id": 21101,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Val73Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}