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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-43743866-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=43743866&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 43743866,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000240.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.1335G>T",
"hgvs_p": "p.Met445Ile",
"transcript": "NM_000240.4",
"protein_id": "NP_000231.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 527,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338702.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000240.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.1335G>T",
"hgvs_p": "p.Met445Ile",
"transcript": "ENST00000338702.4",
"protein_id": "ENSP00000340684.3",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 527,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000240.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338702.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.1398G>T",
"hgvs_p": "p.Met466Ile",
"transcript": "ENST00000967111.1",
"protein_id": "ENSP00000637170.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 548,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967111.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.1377G>T",
"hgvs_p": "p.Met459Ile",
"transcript": "ENST00000873971.1",
"protein_id": "ENSP00000544030.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 541,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873971.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.1290G>T",
"hgvs_p": "p.Met430Ile",
"transcript": "ENST00000967109.1",
"protein_id": "ENSP00000637168.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 512,
"cds_start": 1290,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967109.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.1335G>T",
"hgvs_p": "p.Met445Ile",
"transcript": "ENST00000967110.1",
"protein_id": "ENSP00000637169.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 506,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967110.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.1230G>T",
"hgvs_p": "p.Met410Ile",
"transcript": "ENST00000693128.1",
"protein_id": "ENSP00000508493.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 492,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693128.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Met405Ile",
"transcript": "ENST00000873972.1",
"protein_id": "ENSP00000544031.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 487,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873972.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Met312Ile",
"transcript": "NM_001270458.2",
"protein_id": "NP_001257387.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 394,
"cds_start": 936,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270458.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Met312Ile",
"transcript": "ENST00000542639.6",
"protein_id": "ENSP00000440846.1",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 394,
"cds_start": 936,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542639.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Met312Ile",
"transcript": "ENST00000688006.1",
"protein_id": "ENSP00000510311.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 394,
"cds_start": 936,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688006.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Met312Ile",
"transcript": "ENST00000689087.1",
"protein_id": "ENSP00000508997.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 394,
"cds_start": 936,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689087.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "c.645G>T",
"hgvs_p": "p.Met215Ile",
"transcript": "ENST00000686683.1",
"protein_id": "ENSP00000509063.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 297,
"cds_start": 645,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "n.163G>T",
"hgvs_p": null,
"transcript": "ENST00000490604.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000490604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "n.5867G>T",
"hgvs_p": null,
"transcript": "ENST00000686980.1",
"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": "ENST00000686980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"hgvs_c": "n.891G>T",
"hgvs_p": null,
"transcript": "ENST00000688859.1",
"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": "ENST00000688859.1"
}
],
"gene_symbol": "MAOA",
"gene_hgnc_id": 6833,
"dbsnp": "rs1803986",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9245338439941406,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.887,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8645,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.555,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000240.4",
"gene_symbol": "MAOA",
"hgnc_id": 6833,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1335G>T",
"hgvs_p": "p.Met445Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}