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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: 6-43450883-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43450883&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43450883,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_023932.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"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.808G>C",
"hgvs_p": "p.Val270Leu",
"transcript": "NM_023932.4",
"protein_id": "NP_076421.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 383,
"cds_start": 808,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": "ENST00000372488.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.808G>C",
"hgvs_p": "p.Val270Leu",
"transcript": "ENST00000372488.8",
"protein_id": "ENSP00000361566.3",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 383,
"cds_start": 808,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": "NM_023932.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.808G>C",
"hgvs_p": "p.Val270Leu",
"transcript": "NM_206539.2",
"protein_id": "NP_996262.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 383,
"cds_start": 808,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.808G>C",
"hgvs_p": "p.Val270Leu",
"transcript": "ENST00000357338.3",
"protein_id": "ENSP00000349893.3",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 383,
"cds_start": 808,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.790G>C",
"hgvs_p": "p.Val264Leu",
"transcript": "NM_001286656.2",
"protein_id": "NP_001273585.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 377,
"cds_start": 790,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.790G>C",
"hgvs_p": "p.Val264Leu",
"transcript": "ENST00000372485.5",
"protein_id": "ENSP00000361563.1",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 377,
"cds_start": 790,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.697G>C",
"hgvs_p": "p.Val233Leu",
"transcript": "NM_001286655.1",
"protein_id": "NP_001273584.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 346,
"cds_start": 697,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.523G>C",
"hgvs_p": "p.Val175Leu",
"transcript": "ENST00000430324.5",
"protein_id": "ENSP00000399829.1",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 288,
"cds_start": 523,
"cds_end": null,
"cds_length": 867,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.1087G>C",
"hgvs_p": "p.Val363Leu",
"transcript": "XM_005249308.6",
"protein_id": "XP_005249365.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 476,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.994G>C",
"hgvs_p": "p.Val332Leu",
"transcript": "XM_011514823.4",
"protein_id": "XP_011513125.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 445,
"cds_start": 994,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.715G>C",
"hgvs_p": "p.Val239Leu",
"transcript": "XM_047419263.1",
"protein_id": "XP_047275219.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 352,
"cds_start": 715,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.715G>C",
"hgvs_p": "p.Val239Leu",
"transcript": "XM_047419264.1",
"protein_id": "XP_047275220.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 352,
"cds_start": 715,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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.706G>C",
"hgvs_p": "p.Val236Leu",
"transcript": "XM_047419265.1",
"protein_id": "XP_047275221.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 349,
"cds_start": 706,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 2199,
"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.*14-1013C>G",
"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.*14-1013C>G",
"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+559C>G",
"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": "rs1454844426",
"frequency_reference_population": 0.000002478195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205221,
"gnomad_genomes_af": 0.00000656849,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05292057991027832,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.1056,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.747,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_023932.4",
"gene_symbol": "DLK2",
"hgnc_id": 21113,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.808G>C",
"hgvs_p": "p.Val270Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007059383.1",
"gene_symbol": "ABCC10",
"hgnc_id": 52,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.4828+559C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}