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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: 7-1539206-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=1539206&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 1539206,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002360.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Pro5Arg",
"transcript": "NM_002360.4",
"protein_id": "NP_002351.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 156,
"cds_start": 14,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343242.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002360.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Pro5Arg",
"transcript": "ENST00000343242.9",
"protein_id": "ENSP00000344903.4",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 156,
"cds_start": 14,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002360.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343242.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Pro5Arg",
"transcript": "ENST00000885490.1",
"protein_id": "ENSP00000555549.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 156,
"cds_start": 14,
"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": "ENST00000885490.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Pro5Arg",
"transcript": "ENST00000947296.1",
"protein_id": "ENSP00000617355.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 156,
"cds_start": 14,
"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": "ENST00000947296.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Pro5Arg",
"transcript": "ENST00000947297.1",
"protein_id": "ENSP00000617356.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 156,
"cds_start": 14,
"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": "ENST00000947297.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Pro5Arg",
"transcript": "ENST00000947298.1",
"protein_id": "ENSP00000617357.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 156,
"cds_start": 14,
"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": "ENST00000947298.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Pro5Arg",
"transcript": "ENST00000406174.2",
"protein_id": "ENSP00000385437.2",
"transcript_support_level": 3,
"aa_start": 5,
"aa_end": null,
"aa_length": 155,
"cds_start": 14,
"cds_end": null,
"cds_length": 469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406174.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Pro5Arg",
"transcript": "XM_005249851.3",
"protein_id": "XP_005249908.2",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 156,
"cds_start": 14,
"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": "XM_005249851.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Pro5Arg",
"transcript": "XM_006715773.3",
"protein_id": "XP_006715836.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 156,
"cds_start": 14,
"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": "XM_006715773.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "n.14C>G",
"hgvs_p": null,
"transcript": "ENST00000403150.5",
"protein_id": "ENSP00000386009.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000403150.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "n.312C>G",
"hgvs_p": null,
"transcript": "XR_007060154.1",
"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": "pseudogene",
"feature": "XR_007060154.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"hgvs_c": "n.1069C>G",
"hgvs_p": null,
"transcript": "XR_007060155.1",
"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": "pseudogene",
"feature": "XR_007060155.1"
}
],
"gene_symbol": "MAFK",
"gene_hgnc_id": 6782,
"dbsnp": "rs556535422",
"frequency_reference_population": 0.000008684282,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000479472,
"gnomad_genomes_af": 0.0000460018,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1396177113056183,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.174,
"revel_prediction": "Benign",
"alphamissense_score": 0.1861,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.424,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002360.4",
"gene_symbol": "MAFK",
"hgnc_id": 6782,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Pro5Arg"
}
],
"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
}