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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: X-143628892-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=143628892&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 143628892,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_173078.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "NM_001184749.3",
"protein_id": "NP_001171678.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2634,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "ENST00000356928.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184749.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "ENST00000356928.2",
"protein_id": "ENSP00000349400.1",
"transcript_support_level": 2,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2634,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "NM_001184749.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356928.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "ENST00000338017.8",
"protein_id": "ENSP00000336627.4",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 3357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338017.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "ENST00000596188.2",
"protein_id": "ENSP00000469205.1",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 8545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596188.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "NM_001184750.2",
"protein_id": "NP_001171679.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 8545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184750.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "NM_173078.5",
"protein_id": "NP_775101.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2480,
"cdna_end": null,
"cdna_length": 8582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173078.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "ENST00000851621.1",
"protein_id": "ENSP00000521680.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 3372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851621.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "ENST00000851622.1",
"protein_id": "ENSP00000521681.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2684,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851622.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "ENST00000964901.1",
"protein_id": "ENSP00000634960.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964901.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "ENST00000964902.1",
"protein_id": "ENSP00000634961.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2533,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964902.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "ENST00000964903.1",
"protein_id": "ENSP00000634962.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964903.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "ENST00000964904.1",
"protein_id": "ENSP00000634963.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964904.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "ENST00000964905.1",
"protein_id": "ENSP00000634964.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964905.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "XM_005262365.5",
"protein_id": "XP_005262422.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 8494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262365.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser",
"transcript": "XM_011531265.3",
"protein_id": "XP_011529567.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 837,
"cds_start": 2217,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2636,
"cdna_end": null,
"cdna_length": 8738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531265.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"hgvs_c": "n.2280A>C",
"hgvs_p": null,
"transcript": "XR_007068180.1",
"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": 8269,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007068180.1"
}
],
"gene_symbol": "SLITRK4",
"gene_hgnc_id": 23502,
"dbsnp": null,
"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": 0.3913756310939789,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.284,
"revel_prediction": "Benign",
"alphamissense_score": 0.7368,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.965,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173078.5",
"gene_symbol": "SLITRK4",
"hgnc_id": 23502,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Arg739Ser"
}
],
"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
}