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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: 7-2937116-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2937116&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2937116,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032415.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Met421Thr",
"transcript": "NM_032415.7",
"protein_id": "NP_115791.3",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1262,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396946.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032415.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Met421Thr",
"transcript": "ENST00000396946.9",
"protein_id": "ENSP00000380150.4",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1262,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032415.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396946.9"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Met421Thr",
"transcript": "NM_001324281.3",
"protein_id": "NP_001311210.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1262,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324281.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Met421Thr",
"transcript": "ENST00000888804.1",
"protein_id": "ENSP00000558863.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1262,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888804.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Met421Thr",
"transcript": "ENST00000888805.1",
"protein_id": "ENSP00000558864.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1262,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888805.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Met421Thr",
"transcript": "ENST00000911401.1",
"protein_id": "ENSP00000581460.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1262,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911401.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Met421Thr",
"transcript": "ENST00000911403.1",
"protein_id": "ENSP00000581461.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1128,
"cds_start": 1262,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911403.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"hgvs_c": "n.1588T>C",
"hgvs_p": null,
"transcript": "ENST00000698637.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000698637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"hgvs_c": "n.1521T>C",
"hgvs_p": null,
"transcript": "ENST00000698654.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000698654.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"hgvs_c": "n.1462T>C",
"hgvs_p": null,
"transcript": "ENST00000698662.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000698662.1"
}
],
"gene_symbol": "CARD11",
"gene_hgnc_id": 16393,
"dbsnp": "rs372864426",
"frequency_reference_population": 0.00017841301,
"hom_count_reference_population": 5,
"allele_count_reference_population": 288,
"gnomad_exomes_af": 0.0000882417,
"gnomad_genomes_af": 0.00104373,
"gnomad_exomes_ac": 129,
"gnomad_genomes_ac": 159,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012620091438293457,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.3131,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.381,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032415.7",
"gene_symbol": "CARD11",
"hgnc_id": 16393,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Met421Thr"
}
],
"clinvar_disease": "BENTA disease,CARD11-related disorder,Severe combined immunodeficiency due to CARD11 deficiency,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1 O:1",
"phenotype_combined": "not specified|BENTA disease;Severe combined immunodeficiency due to CARD11 deficiency|CARD11-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}