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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: 6-132322762-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=132322762&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 132322762,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015529.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.1222A>G",
"hgvs_p": "p.Met408Val",
"transcript": "NM_015529.4",
"protein_id": "NP_056344.2",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 613,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367963.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015529.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.1222A>G",
"hgvs_p": "p.Met408Val",
"transcript": "ENST00000367963.8",
"protein_id": "ENSP00000356940.3",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 613,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015529.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367963.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.1018A>G",
"hgvs_p": "p.Met340Val",
"transcript": "ENST00000336749.3",
"protein_id": "ENSP00000336998.3",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 545,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336749.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.1210A>G",
"hgvs_p": "p.Met404Val",
"transcript": "ENST00000940886.1",
"protein_id": "ENSP00000610945.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 609,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940886.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Met398Val",
"transcript": "ENST00000897947.1",
"protein_id": "ENSP00000568006.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 603,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897947.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.1117A>G",
"hgvs_p": "p.Met373Val",
"transcript": "ENST00000897946.1",
"protein_id": "ENSP00000568005.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 578,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897946.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.1108A>G",
"hgvs_p": "p.Met370Val",
"transcript": "ENST00000897949.1",
"protein_id": "ENSP00000568008.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 575,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897949.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.823A>G",
"hgvs_p": "p.Met275Val",
"transcript": "ENST00000897948.1",
"protein_id": "ENSP00000568007.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 480,
"cds_start": 823,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897948.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.772A>G",
"hgvs_p": "p.Met258Val",
"transcript": "ENST00000940885.1",
"protein_id": "ENSP00000610944.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 463,
"cds_start": 772,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940885.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.1117A>G",
"hgvs_p": "p.Met373Val",
"transcript": "XM_017010714.3",
"protein_id": "XP_016866203.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 578,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010714.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Met321Val",
"transcript": "XM_047418621.1",
"protein_id": "XP_047274577.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 526,
"cds_start": 961,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418621.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Met321Val",
"transcript": "XM_047418622.1",
"protein_id": "XP_047274578.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 526,
"cds_start": 961,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418622.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "c.664-2074A>G",
"hgvs_p": null,
"transcript": "ENST00000940887.1",
"protein_id": "ENSP00000610946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940887.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"hgvs_c": "n.344A>G",
"hgvs_p": null,
"transcript": "ENST00000489128.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489128.1"
}
],
"gene_symbol": "MOXD1",
"gene_hgnc_id": 21063,
"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": 0.09894448518753052,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.0833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.443,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015529.4",
"gene_symbol": "MOXD1",
"hgnc_id": 21063,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1222A>G",
"hgvs_p": "p.Met408Val"
}
],
"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
}