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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: 15-88879129-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=88879129&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 88879129,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001307952.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Cys212Arg",
"transcript": "NM_178232.4",
"protein_id": "NP_839946.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 360,
"cds_start": 634,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359595.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178232.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Cys212Arg",
"transcript": "ENST00000359595.8",
"protein_id": "ENSP00000352606.4",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 360,
"cds_start": 634,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178232.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359595.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Cys274Arg",
"transcript": "NM_001307952.2",
"protein_id": "NP_001294881.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 422,
"cds_start": 820,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307952.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Cys274Arg",
"transcript": "ENST00000562889.5",
"protein_id": "ENSP00000457180.1",
"transcript_support_level": 5,
"aa_start": 274,
"aa_end": null,
"aa_length": 422,
"cds_start": 820,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562889.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.676T>C",
"hgvs_p": "p.Cys226Arg",
"transcript": "ENST00000969266.1",
"protein_id": "ENSP00000639325.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 374,
"cds_start": 676,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969266.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Cys212Arg",
"transcript": "ENST00000868802.1",
"protein_id": "ENSP00000538861.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 360,
"cds_start": 634,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868802.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Cys212Arg",
"transcript": "ENST00000933087.1",
"protein_id": "ENSP00000603146.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 360,
"cds_start": 634,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933087.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Cys212Arg",
"transcript": "ENST00000933088.1",
"protein_id": "ENSP00000603147.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 360,
"cds_start": 634,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933088.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Cys212Arg",
"transcript": "ENST00000969267.1",
"protein_id": "ENSP00000639326.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 360,
"cds_start": 634,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969267.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Cys212Arg",
"transcript": "ENST00000969268.1",
"protein_id": "ENSP00000639327.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 360,
"cds_start": 634,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969268.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.265T>C",
"hgvs_p": "p.Cys89Arg",
"transcript": "ENST00000868804.1",
"protein_id": "ENSP00000538863.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 237,
"cds_start": 265,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868804.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.766T>C",
"hgvs_p": "p.Cys256Arg",
"transcript": "XM_011521261.2",
"protein_id": "XP_011519563.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 404,
"cds_start": 766,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521261.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Cys212Arg",
"transcript": "XM_047432172.1",
"protein_id": "XP_047288128.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 360,
"cds_start": 634,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432172.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.313T>C",
"hgvs_p": "p.Cys105Arg",
"transcript": "XM_047432173.1",
"protein_id": "XP_047288129.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 253,
"cds_start": 313,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432173.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.669T>C",
"hgvs_p": "p.Gly223Gly",
"transcript": "ENST00000562281.1",
"protein_id": "ENSP00000456985.1",
"transcript_support_level": 3,
"aa_start": 223,
"aa_end": null,
"aa_length": 225,
"cds_start": 669,
"cds_end": null,
"cds_length": 679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562281.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.494-873T>C",
"hgvs_p": null,
"transcript": "ENST00000868803.1",
"protein_id": "ENSP00000538862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868803.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.680-873T>C",
"hgvs_p": null,
"transcript": "XM_017021934.3",
"protein_id": "XP_016877423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021934.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "n.*1266T>C",
"hgvs_p": null,
"transcript": "ENST00000558770.5",
"protein_id": "ENSP00000456458.1",
"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": "ENST00000558770.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "n.*1266T>C",
"hgvs_p": null,
"transcript": "ENST00000558770.5",
"protein_id": "ENSP00000456458.1",
"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": "ENST00000558770.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"hgvs_c": "c.*181T>C",
"hgvs_p": null,
"transcript": "XM_047432175.1",
"protein_id": "XP_047288131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432175.1"
}
],
"gene_symbol": "HAPLN3",
"gene_hgnc_id": 21446,
"dbsnp": "rs537098112",
"frequency_reference_population": 0.000006817241,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000547487,
"gnomad_genomes_af": 0.0000196936,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9358310699462891,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.684,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9836,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.76,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001307952.2",
"gene_symbol": "HAPLN3",
"hgnc_id": 21446,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Cys274Arg"
}
],
"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
}