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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: 9-133459038-C-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133459038&ref=C&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133459038,
"ref": "C",
"alt": "CA",
"effect": "frameshift_variant",
"transcript": "ENST00000355699.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.3975dupA",
"hgvs_p": "p.Glu1326fs",
"transcript": "NM_139027.6",
"protein_id": "NP_620596.2",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3976,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": "ENST00000355699.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.3975dupA",
"hgvs_p": "p.Glu1326fs",
"transcript": "ENST00000355699.7",
"protein_id": "ENSP00000347927.2",
"transcript_support_level": 1,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3976,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": "NM_139027.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.4143dupA",
"hgvs_p": "p.Glu1382fs",
"transcript": "ENST00000371929.7",
"protein_id": "ENSP00000360997.3",
"transcript_support_level": 1,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1427,
"cds_start": 4144,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 4588,
"cdna_end": null,
"cdna_length": 4934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.3882dupA",
"hgvs_p": "p.Glu1295fs",
"transcript": "ENST00000356589.6",
"protein_id": "ENSP00000348997.2",
"transcript_support_level": 1,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 4003,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.531dupA",
"hgvs_p": "p.Glu178fs",
"transcript": "ENST00000371910.1",
"protein_id": "ENSP00000360978.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 223,
"cds_start": 532,
"cds_end": null,
"cds_length": 672,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.2606dupA",
"hgvs_p": null,
"transcript": "ENST00000485925.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.4143dupA",
"hgvs_p": "p.Glu1382fs",
"transcript": "NM_139025.5",
"protein_id": "NP_620594.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1427,
"cds_start": 4144,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 4221,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.3882dupA",
"hgvs_p": "p.Glu1295fs",
"transcript": "NM_139026.6",
"protein_id": "NP_620595.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 3960,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.4131dupA",
"hgvs_p": "p.Glu1378fs",
"transcript": "XM_017014232.2",
"protein_id": "XP_016869721.1",
"transcript_support_level": null,
"aa_start": 1378,
"aa_end": null,
"aa_length": 1423,
"cds_start": 4132,
"cds_end": null,
"cds_length": 4272,
"cdna_start": 4848,
"cdna_end": null,
"cdna_length": 5194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.4050dupA",
"hgvs_p": "p.Glu1351fs",
"transcript": "XM_047422699.1",
"protein_id": "XP_047278655.1",
"transcript_support_level": null,
"aa_start": 1351,
"aa_end": null,
"aa_length": 1396,
"cds_start": 4051,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 4128,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.3753dupA",
"hgvs_p": "p.Glu1252fs",
"transcript": "XM_017014233.2",
"protein_id": "XP_016869722.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3754,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 4230,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.3159dupA",
"hgvs_p": "p.Glu1054fs",
"transcript": "XM_011518176.4",
"protein_id": "XP_011516478.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3160,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 4297,
"cdna_end": null,
"cdna_length": 4643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.3153dupA",
"hgvs_p": "p.Glu1052fs",
"transcript": "XM_017014234.2",
"protein_id": "XP_016869723.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3154,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 3388,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2808dupA",
"hgvs_p": "p.Glu937fs",
"transcript": "XM_011518178.3",
"protein_id": "XP_011516480.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 982,
"cds_start": 2809,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2808dupA",
"hgvs_p": "p.Glu937fs",
"transcript": "XM_011518179.1",
"protein_id": "XP_011516481.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 982,
"cds_start": 2809,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.2627dupA",
"hgvs_p": null,
"transcript": "NR_024514.3",
"protein_id": null,
"transcript_support_level": null,
"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": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.*1444dupA",
"hgvs_p": null,
"transcript": "ENST00000371916.5",
"protein_id": "ENSP00000360984.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": -4,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"dbsnp": "rs387906343",
"frequency_reference_population": 0.00005145481,
"hom_count_reference_population": 0,
"allele_count_reference_population": 83,
"gnomad_exomes_af": 0.0000506536,
"gnomad_genomes_af": 0.0000591467,
"gnomad_exomes_ac": 74,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -2.033,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000355699.7",
"gene_symbol": "ADAMTS13",
"hgnc_id": 1366,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3975dupA",
"hgvs_p": "p.Glu1326fs"
}
],
"clinvar_disease": "Upshaw-Schulman syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Upshaw-Schulman syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}