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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: 6-43450904-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43450904&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43450904,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_023932.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Pro263Ser",
"transcript": "NM_023932.4",
"protein_id": "NP_076421.2",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 383,
"cds_start": 787,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": "ENST00000372488.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Pro263Ser",
"transcript": "ENST00000372488.8",
"protein_id": "ENSP00000361566.3",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 383,
"cds_start": 787,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": "NM_023932.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Pro263Ser",
"transcript": "NM_206539.2",
"protein_id": "NP_996262.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 383,
"cds_start": 787,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Pro263Ser",
"transcript": "ENST00000357338.3",
"protein_id": "ENSP00000349893.3",
"transcript_support_level": 2,
"aa_start": 263,
"aa_end": null,
"aa_length": 383,
"cds_start": 787,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Pro257Ser",
"transcript": "NM_001286656.2",
"protein_id": "NP_001273585.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 377,
"cds_start": 769,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Pro257Ser",
"transcript": "ENST00000372485.5",
"protein_id": "ENSP00000361563.1",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 377,
"cds_start": 769,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Pro226Ser",
"transcript": "NM_001286655.1",
"protein_id": "NP_001273584.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 346,
"cds_start": 676,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Pro168Ser",
"transcript": "ENST00000430324.5",
"protein_id": "ENSP00000399829.1",
"transcript_support_level": 2,
"aa_start": 168,
"aa_end": null,
"aa_length": 288,
"cds_start": 502,
"cds_end": null,
"cds_length": 867,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Pro356Ser",
"transcript": "XM_005249308.6",
"protein_id": "XP_005249365.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 476,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Pro325Ser",
"transcript": "XM_011514823.4",
"protein_id": "XP_011513125.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 445,
"cds_start": 973,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Pro232Ser",
"transcript": "XM_047419263.1",
"protein_id": "XP_047275219.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 352,
"cds_start": 694,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Pro232Ser",
"transcript": "XM_047419264.1",
"protein_id": "XP_047275220.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 352,
"cds_start": 694,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Pro229Ser",
"transcript": "XM_047419265.1",
"protein_id": "XP_047275221.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 349,
"cds_start": 685,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*14-992G>A",
"hgvs_p": null,
"transcript": "XM_047419496.1",
"protein_id": "XP_047275452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": -4,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "c.*14-992G>A",
"hgvs_p": null,
"transcript": "XM_047419497.1",
"protein_id": "XP_047275453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ABCC10",
"gene_hgnc_id": 52,
"hgvs_c": "n.4828+580G>A",
"hgvs_p": null,
"transcript": "XR_007059383.1",
"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": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DLK2",
"gene_hgnc_id": 21113,
"dbsnp": "rs1218127534",
"frequency_reference_population": 6.8406285e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84063e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09316593408584595,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.0723,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.435,
"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_023932.4",
"gene_symbol": "DLK2",
"hgnc_id": 21113,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Pro263Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007059383.1",
"gene_symbol": "ABCC10",
"hgnc_id": 52,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.4828+580G>A",
"hgvs_p": null
}
],
"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
}