← Back to variant description
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: 17-15440223-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15440223&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15440223,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001204477.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDRT4",
"gene_hgnc_id": 14383,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Met6Val",
"transcript": "NM_001204477.2",
"protein_id": "NP_001191406.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 152,
"cds_start": 16,
"cds_end": null,
"cds_length": 459,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": "ENST00000619038.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204477.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDRT4",
"gene_hgnc_id": 14383,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Met6Val",
"transcript": "ENST00000619038.5",
"protein_id": "ENSP00000482523.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 152,
"cds_start": 16,
"cds_end": null,
"cds_length": 459,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": "NM_001204477.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619038.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23C-CDRT4",
"gene_hgnc_id": 42961,
"hgvs_c": "c.*30A>G",
"hgvs_p": null,
"transcript": "ENST00000522212.6",
"protein_id": "ENSP00000429865.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522212.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDRT4",
"gene_hgnc_id": 14383,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Met6Val",
"transcript": "ENST00000885788.1",
"protein_id": "ENSP00000555847.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 152,
"cds_start": 16,
"cds_end": null,
"cds_length": 459,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885788.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDRT4",
"gene_hgnc_id": 14383,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Met6Val",
"transcript": "ENST00000885789.1",
"protein_id": "ENSP00000555848.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 152,
"cds_start": 16,
"cds_end": null,
"cds_length": 459,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885789.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDRT4",
"gene_hgnc_id": 14383,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Met6Val",
"transcript": "ENST00000885790.1",
"protein_id": "ENSP00000555849.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 152,
"cds_start": 16,
"cds_end": null,
"cds_length": 459,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885790.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDRT4",
"gene_hgnc_id": 14383,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Met6Val",
"transcript": "ENST00000963509.1",
"protein_id": "ENSP00000633568.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 152,
"cds_start": 16,
"cds_end": null,
"cds_length": 459,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963509.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23C-CDRT4",
"gene_hgnc_id": 42961,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Met6Val",
"transcript": "ENST00000524205.3",
"protein_id": "ENSP00000452374.3",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 23,
"cds_start": 16,
"cds_end": null,
"cds_length": 74,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524205.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23C-CDRT4",
"gene_hgnc_id": 42961,
"hgvs_c": "c.*30A>G",
"hgvs_p": null,
"transcript": "NM_001204478.2",
"protein_id": "NP_001191407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204478.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23C-CDRT4",
"gene_hgnc_id": 42961,
"hgvs_c": "n.*266A>G",
"hgvs_p": null,
"transcript": "ENST00000481756.7",
"protein_id": "ENSP00000423249.3",
"transcript_support_level": 4,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000481756.7"
},
{
"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": "TVP23C-CDRT4",
"gene_hgnc_id": 42961,
"hgvs_c": "n.*283A>G",
"hgvs_p": null,
"transcript": "ENST00000518506.4",
"protein_id": "ENSP00000430143.1",
"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": 520,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518506.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23C-CDRT4",
"gene_hgnc_id": 42961,
"hgvs_c": "n.415A>G",
"hgvs_p": null,
"transcript": "NR_037924.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037924.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23C-CDRT4",
"gene_hgnc_id": 42961,
"hgvs_c": "n.*266A>G",
"hgvs_p": null,
"transcript": "ENST00000481756.7",
"protein_id": "ENSP00000423249.3",
"transcript_support_level": 4,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000481756.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23C-CDRT4",
"gene_hgnc_id": 42961,
"hgvs_c": "n.*283A>G",
"hgvs_p": null,
"transcript": "ENST00000518506.4",
"protein_id": "ENSP00000430143.1",
"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": 520,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518506.4"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDRT4",
"gene_hgnc_id": 14383,
"hgvs_c": "n.109-2023A>G",
"hgvs_p": null,
"transcript": "ENST00000519354.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000519354.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDRT4",
"gene_hgnc_id": 14383,
"hgvs_c": "n.129-2023A>G",
"hgvs_p": null,
"transcript": "ENST00000520956.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 470,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000520956.2"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TVP23C-CDRT4",
"gene_hgnc_id": 42961,
"hgvs_c": "n.*468-2023A>G",
"hgvs_p": null,
"transcript": "ENST00000557349.5",
"protein_id": "ENSP00000450826.2",
"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": 1005,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557349.5"
}
],
"gene_symbol": "CDRT4",
"gene_hgnc_id": 14383,
"dbsnp": "rs778565867",
"frequency_reference_population": 0.000006816041,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000410492,
"gnomad_genomes_af": 0.0000328563,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.042165607213974,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.30000001192092896,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.1126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.331,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.3,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001204477.2",
"gene_symbol": "CDRT4",
"hgnc_id": 14383,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Met6Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001204478.2",
"gene_symbol": "TVP23C-CDRT4",
"hgnc_id": 42961,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*30A>G",
"hgvs_p": null
}
],
"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
}