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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: 19-40213169-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40213169&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40213169,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000253055.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "c.1818T>G",
"hgvs_p": "p.Phe606Leu",
"transcript": "NM_002446.4",
"protein_id": "NP_002437.2",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 954,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "ENST00000253055.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "c.1818T>G",
"hgvs_p": "p.Phe606Leu",
"transcript": "ENST00000253055.8",
"protein_id": "ENSP00000253055.2",
"transcript_support_level": 1,
"aa_start": 606,
"aa_end": null,
"aa_length": 954,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "NM_002446.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "c.1842T>G",
"hgvs_p": "p.Phe614Leu",
"transcript": "XM_011526981.3",
"protein_id": "XP_011525283.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 962,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 2448,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "c.1842T>G",
"hgvs_p": "p.Phe614Leu",
"transcript": "XM_011526982.4",
"protein_id": "XP_011525284.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 860,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2448,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "c.1842T>G",
"hgvs_p": "p.Phe614Leu",
"transcript": "XM_047438844.1",
"protein_id": "XP_047294800.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 726,
"cds_start": 1842,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 2448,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "c.816T>G",
"hgvs_p": "p.Phe272Leu",
"transcript": "XM_047438845.1",
"protein_id": "XP_047294801.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 620,
"cds_start": 816,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "n.*278T>G",
"hgvs_p": null,
"transcript": "ENST00000593502.5",
"protein_id": "ENSP00000473021.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "n.334T>G",
"hgvs_p": null,
"transcript": "ENST00000594791.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "n.*278T>G",
"hgvs_p": null,
"transcript": "ENST00000597986.5",
"protein_id": "ENSP00000471916.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "n.*278T>G",
"hgvs_p": null,
"transcript": "ENST00000593502.5",
"protein_id": "ENSP00000473021.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"hgvs_c": "n.*278T>G",
"hgvs_p": null,
"transcript": "ENST00000597986.5",
"protein_id": "ENSP00000471916.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAP3K10",
"gene_hgnc_id": 6849,
"dbsnp": "rs1129156",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6038005352020264,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.309,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9912,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.279,
"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": 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": "ENST00000253055.8",
"gene_symbol": "MAP3K10",
"hgnc_id": 6849,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1818T>G",
"hgvs_p": "p.Phe606Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}