← 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: 17-737991-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=737991&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TLCD3A",
"hgnc_id": 29646,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_024792.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.17,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6225123405456543,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 257,
"aa_ref": "R",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 404,
"cds_end": null,
"cds_length": 774,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024792.3",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308278.13",
"protein_coding": true,
"protein_id": "NP_079068.1",
"strand": true,
"transcript": "NM_024792.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 257,
"aa_ref": "R",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 404,
"cds_end": null,
"cds_length": 774,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000308278.13",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024792.3",
"protein_coding": true,
"protein_id": "ENSP00000312017.7",
"strand": true,
"transcript": "ENST00000308278.13",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 225,
"aa_ref": "R",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 416,
"cds_end": null,
"cds_length": 678,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000301324.8",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000301324.8",
"strand": true,
"transcript": "ENST00000301324.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 225,
"aa_ref": "R",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 404,
"cds_end": null,
"cds_length": 678,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318006.2",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304935.1",
"strand": true,
"transcript": "NM_001318006.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 87,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": null,
"cds_end": null,
"cds_length": 264,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318007.2",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "c.207-2514C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304936.1",
"strand": true,
"transcript": "NM_001318007.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 69,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": null,
"cds_end": null,
"cds_length": 210,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318008.2",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "c.207-3310C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304937.1",
"strand": true,
"transcript": "NM_001318008.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 69,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 373,
"cdna_start": null,
"cds_end": null,
"cds_length": 210,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000572018.5",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "c.207-3310C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460150.1",
"strand": true,
"transcript": "ENST00000572018.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 37,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 867,
"cdna_start": null,
"cds_end": null,
"cds_length": 114,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000577008.1",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "c.57-2514C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460233.2",
"strand": true,
"transcript": "ENST00000577008.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000570699.1",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "n.*230C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458649.1",
"strand": true,
"transcript": "ENST00000570699.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000570699.1",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "n.*230C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458649.1",
"strand": true,
"transcript": "ENST00000570699.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 852,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000574327.1",
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"hgvs_c": "n.*85-2514C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458224.1",
"strand": true,
"transcript": "ENST00000574327.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs553761207",
"effect": "missense_variant",
"frequency_reference_population": 0.000011772433,
"gene_hgnc_id": 29646,
"gene_symbol": "TLCD3A",
"gnomad_exomes_ac": 17,
"gnomad_exomes_af": 0.000011629,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131517,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.28,
"pos": 737991,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.62,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_024792.3"
}
]
}