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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: 1-20310648-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20310648&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20310648,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001039500.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "NM_001039500.3",
"protein_id": "NP_001034589.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1215,
"cds_start": 47,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000289815.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039500.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "ENST00000289815.13",
"protein_id": "ENSP00000289815.9",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 1215,
"cds_start": 47,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001039500.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289815.13"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "ENST00000919186.1",
"protein_id": "ENSP00000589245.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1221,
"cds_start": 47,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919186.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "ENST00000375079.6",
"protein_id": "ENSP00000364220.1",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 1220,
"cds_start": 47,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375079.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "ENST00000893215.1",
"protein_id": "ENSP00000563274.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1215,
"cds_start": 47,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893215.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "ENST00000534075.1",
"protein_id": "ENSP00000432600.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 126,
"cds_start": 47,
"cds_end": null,
"cds_length": 383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534075.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "ENST00000530722.5",
"protein_id": "ENSP00000437028.1",
"transcript_support_level": 4,
"aa_start": 16,
"aa_end": null,
"aa_length": 81,
"cds_start": 47,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530722.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "XM_011540683.3",
"protein_id": "XP_011538985.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1215,
"cds_start": 47,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540683.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "XM_011540684.3",
"protein_id": "XP_011538986.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1215,
"cds_start": 47,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540684.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "XM_011540685.3",
"protein_id": "XP_011538987.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1215,
"cds_start": 47,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540685.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "XM_011540688.3",
"protein_id": "XP_011538990.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1190,
"cds_start": 47,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540688.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "XM_011540690.3",
"protein_id": "XP_011538992.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1156,
"cds_start": 47,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540690.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "XM_011540691.3",
"protein_id": "XP_011538993.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1153,
"cds_start": 47,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540691.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "XM_011540693.2",
"protein_id": "XP_011538995.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1017,
"cds_start": 47,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540693.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "XM_047445799.1",
"protein_id": "XP_047301755.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 931,
"cds_start": 47,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445799.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser",
"transcript": "XM_011540698.2",
"protein_id": "XP_011539000.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 730,
"cds_start": 47,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540698.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "c.-213C>G",
"hgvs_p": null,
"transcript": "NM_001377531.1",
"protein_id": "NP_001364460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1110,
"cds_start": null,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "n.47C>G",
"hgvs_p": null,
"transcript": "ENST00000473325.5",
"protein_id": "ENSP00000437095.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473325.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"hgvs_c": "n.47C>G",
"hgvs_p": null,
"transcript": "ENST00000485375.6",
"protein_id": "ENSP00000431194.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000485375.6"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000226664",
"gene_hgnc_id": 41146,
"hgvs_c": "n.85+12455G>C",
"hgvs_p": null,
"transcript": "ENST00000444923.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000444923.1"
}
],
"gene_symbol": "VWA5B1",
"gene_hgnc_id": 26538,
"dbsnp": "rs1322056739",
"frequency_reference_population": 0.0000070940737,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000715065,
"gnomad_genomes_af": 0.00000657393,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14024943113327026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.1763,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.566,
"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_001039500.3",
"gene_symbol": "VWA5B1",
"hgnc_id": 26538,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Thr16Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000444923.1",
"gene_symbol": "ENSG00000226664",
"hgnc_id": 41146,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.85+12455G>C",
"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
}