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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: 7-50499171-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=50499171&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 50499171,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000444124.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"transcript": "NM_001082971.2",
"protein_id": "NP_001076440.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 480,
"cds_start": 853,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": "ENST00000444124.7",
"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": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"transcript": "ENST00000444124.7",
"protein_id": "ENSP00000403644.2",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 480,
"cds_start": 853,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": "NM_001082971.2",
"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": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"transcript": "ENST00000357936.9",
"protein_id": "ENSP00000350616.5",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 480,
"cds_start": 853,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 1938,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"transcript": "ENST00000380984.4",
"protein_id": "ENSP00000370371.4",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 338,
"cds_start": 853,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 1366,
"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": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"transcript": "NM_000790.4",
"protein_id": "NP_000781.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 480,
"cds_start": 853,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1949,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Trp",
"transcript": "NM_001242886.2",
"protein_id": "NP_001229815.2",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 442,
"cds_start": 739,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1835,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Trp",
"transcript": "ENST00000622873.4",
"protein_id": "ENSP00000479110.1",
"transcript_support_level": 3,
"aa_start": 247,
"aa_end": null,
"aa_length": 442,
"cds_start": 739,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1839,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237Trp",
"transcript": "NM_001242887.2",
"protein_id": "NP_001229816.2",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 432,
"cds_start": 709,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1805,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.709C>T",
"hgvs_p": "p.Arg237Trp",
"transcript": "ENST00000617822.4",
"protein_id": "ENSP00000478385.1",
"transcript_support_level": 3,
"aa_start": 237,
"aa_end": null,
"aa_length": 432,
"cds_start": 709,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1809,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207Trp",
"transcript": "NM_001242888.2",
"protein_id": "NP_001229817.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 402,
"cds_start": 619,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1715,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207Trp",
"transcript": "ENST00000426377.5",
"protein_id": "ENSP00000395069.1",
"transcript_support_level": 3,
"aa_start": 207,
"aa_end": null,
"aa_length": 402,
"cds_start": 619,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1700,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Trp",
"transcript": "NM_001242889.2",
"protein_id": "NP_001229818.2",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 387,
"cds_start": 574,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1670,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Trp",
"transcript": "ENST00000431062.5",
"protein_id": "ENSP00000399184.1",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 387,
"cds_start": 574,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1620,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.574C>T",
"hgvs_p": "p.Arg192Trp",
"transcript": "ENST00000615193.4",
"protein_id": "ENSP00000484104.1",
"transcript_support_level": 3,
"aa_start": 192,
"aa_end": null,
"aa_length": 387,
"cds_start": 574,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1674,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165Trp",
"transcript": "ENST00000430300.5",
"protein_id": "ENSP00000389422.1",
"transcript_support_level": 5,
"aa_start": 165,
"aa_end": null,
"aa_length": 360,
"cds_start": 493,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 1470,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"transcript": "NM_001242890.2",
"protein_id": "NP_001229819.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 338,
"cds_start": 853,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1389,
"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": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Trp",
"transcript": "XM_047419932.1",
"protein_id": "XP_047275888.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 521,
"cds_start": 976,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2135,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"transcript": "XM_047419931.1",
"protein_id": "XP_047275887.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 480,
"cds_start": 853,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1611,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Trp",
"transcript": "XM_005271745.5",
"protein_id": "XP_005271802.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 442,
"cds_start": 739,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1898,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"hgvs_c": "n.668-3754C>T",
"hgvs_p": null,
"transcript": "ENST00000444733.5",
"protein_id": "ENSP00000393724.1",
"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": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DDC",
"gene_hgnc_id": 2719,
"dbsnp": "rs886062372",
"frequency_reference_population": 0.0000030983695,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273675,
"gnomad_genomes_af": 0.00000657194,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9631966352462769,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23999999463558197,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.593,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5247,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.405,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000444124.7",
"gene_symbol": "DDC",
"hgnc_id": 2719,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp"
}
],
"clinvar_disease": "Deficiency of aromatic-L-amino-acid decarboxylase",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Deficiency of aromatic-L-amino-acid decarboxylase",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}