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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: 6-99333394-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=99333394&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 99333394,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032511.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Ile186Val",
"transcript": "NM_032511.4",
"protein_id": "NP_115900.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 409,
"cds_start": 556,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 11528,
"mane_select": "ENST00000389677.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032511.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Ile186Val",
"transcript": "ENST00000389677.6",
"protein_id": "ENSP00000374328.4",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 409,
"cds_start": 556,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 11528,
"mane_select": "NM_032511.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389677.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "c.-18+9504A>G",
"hgvs_p": null,
"transcript": "ENST00000538471.1",
"protein_id": "ENSP00000445267.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": null,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538471.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ile133Val",
"transcript": "NM_001346531.2",
"protein_id": "NP_001333460.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 356,
"cds_start": 397,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 11123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346531.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "c.397A>G",
"hgvs_p": "p.Ile133Val",
"transcript": "NM_001346532.1",
"protein_id": "NP_001333461.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 356,
"cds_start": 397,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 11349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346532.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Ile65Val",
"transcript": "NM_001346530.2",
"protein_id": "NP_001333459.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 288,
"cds_start": 193,
"cds_end": null,
"cds_length": 867,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 11001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346530.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Ile65Val",
"transcript": "NM_001346533.1",
"protein_id": "NP_001333462.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 288,
"cds_start": 193,
"cds_end": null,
"cds_length": 867,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 11227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346533.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Ile186Val",
"transcript": "XM_011536189.4",
"protein_id": "XP_011534491.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 256,
"cds_start": 556,
"cds_end": null,
"cds_length": 771,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536189.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "n.459A>G",
"hgvs_p": null,
"transcript": "ENST00000480148.1",
"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": 687,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000480148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "n.453A>G",
"hgvs_p": null,
"transcript": "NR_144463.2",
"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": 10899,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144463.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"hgvs_c": "n.672A>G",
"hgvs_p": null,
"transcript": "NR_144464.1",
"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": 11125,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144464.1"
}
],
"gene_symbol": "FAXC",
"gene_hgnc_id": 20742,
"dbsnp": "rs373193776",
"frequency_reference_population": 0.000006815568,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684118,
"gnomad_genomes_af": 0.00000656961,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08156585693359375,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.0562,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.853,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032511.4",
"gene_symbol": "FAXC",
"hgnc_id": 20742,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Ile186Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}