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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: 5-177307647-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177307647&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177307647,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000439742.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "NM_031300.4",
"protein_id": "NP_112590.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 206,
"cds_start": 562,
"cds_end": null,
"cds_length": 621,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": "ENST00000439742.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000439742.7",
"protein_id": "ENSP00000401867.2",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 206,
"cds_start": 562,
"cds_end": null,
"cds_length": 621,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": "NM_031300.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "NM_001394986.1",
"protein_id": "NP_001381915.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 206,
"cds_start": 562,
"cds_end": null,
"cds_length": 621,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp",
"transcript": "ENST00000513063.5",
"protein_id": "ENSP00000421463.1",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 206,
"cds_start": 562,
"cds_end": null,
"cds_length": 621,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Trp",
"transcript": "NM_001394987.1",
"protein_id": "NP_001381916.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 196,
"cds_start": 532,
"cds_end": null,
"cds_length": 591,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "c.639C>T",
"hgvs_p": "p.Cys213Cys",
"transcript": "ENST00000423571.6",
"protein_id": "ENSP00000389716.2",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 388,
"cds_start": 639,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "n.1415C>T",
"hgvs_p": null,
"transcript": "ENST00000503782.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "c.505+134C>T",
"hgvs_p": null,
"transcript": "NM_001142935.2",
"protein_id": "NP_001136407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "c.505+134C>T",
"hgvs_p": null,
"transcript": "ENST00000427908.6",
"protein_id": "ENSP00000416921.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "n.1353+134C>T",
"hgvs_p": null,
"transcript": "ENST00000503473.5",
"protein_id": null,
"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": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "n.282+134C>T",
"hgvs_p": null,
"transcript": "ENST00000509339.1",
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "c.*235C>T",
"hgvs_p": null,
"transcript": "ENST00000502529.1",
"protein_id": "ENSP00000425029.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": -4,
"cds_end": null,
"cds_length": 374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"hgvs_c": "c.*166C>T",
"hgvs_p": null,
"transcript": "ENST00000513169.1",
"protein_id": "ENSP00000427104.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": -4,
"cds_end": null,
"cds_length": 224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MXD3",
"gene_hgnc_id": 14008,
"dbsnp": "rs72813183",
"frequency_reference_population": 0.000021072805,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000212165,
"gnomad_genomes_af": 0.0000196943,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15836364030838013,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.1226,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.4,
"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": "ENST00000439742.7",
"gene_symbol": "MXD3",
"hgnc_id": 14008,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}