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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: 22-44119072-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=44119072&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 44119072,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013327.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.308A>G",
"hgvs_p": "p.Glu103Gly",
"transcript": "NM_013327.5",
"protein_id": "NP_037459.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 364,
"cds_start": 308,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 5394,
"mane_select": "ENST00000338758.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.308A>G",
"hgvs_p": "p.Glu103Gly",
"transcript": "ENST00000338758.12",
"protein_id": "ENSP00000342492.6",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 364,
"cds_start": 308,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 5394,
"mane_select": "NM_013327.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Glu136Gly",
"transcript": "ENST00000406477.7",
"protein_id": "ENSP00000384515.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 397,
"cds_start": 407,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.197A>G",
"hgvs_p": "p.Glu66Gly",
"transcript": "ENST00000404989.1",
"protein_id": "ENSP00000384353.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 327,
"cds_start": 197,
"cds_end": null,
"cds_length": 984,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Glu51Gly",
"transcript": "ENST00000619710.4",
"protein_id": "ENSP00000482511.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 289,
"cds_start": 152,
"cds_end": null,
"cds_length": 870,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1530,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "n.346A>G",
"hgvs_p": null,
"transcript": "ENST00000402876.3",
"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": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Glu136Gly",
"transcript": "NM_001003828.3",
"protein_id": "NP_001003828.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 397,
"cds_start": 407,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.197A>G",
"hgvs_p": "p.Glu66Gly",
"transcript": "NM_001243385.2",
"protein_id": "NP_001230314.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 327,
"cds_start": 197,
"cds_end": null,
"cds_length": 984,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Glu51Gly",
"transcript": "NM_001243386.2",
"protein_id": "NP_001230315.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 289,
"cds_start": 152,
"cds_end": null,
"cds_length": 870,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 5248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.302A>G",
"hgvs_p": "p.Glu101Gly",
"transcript": "ENST00000444029.5",
"protein_id": "ENSP00000393758.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 302,
"cds_end": null,
"cds_length": 583,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.Glu121Gly",
"transcript": "XM_024452235.2",
"protein_id": "XP_024308003.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 382,
"cds_start": 362,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Glu136Gly",
"transcript": "XM_024452236.2",
"protein_id": "XP_024308004.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 374,
"cds_start": 407,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.308A>G",
"hgvs_p": "p.Glu103Gly",
"transcript": "XM_017028792.3",
"protein_id": "XP_016884281.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 341,
"cds_start": 308,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.197A>G",
"hgvs_p": "p.Glu66Gly",
"transcript": "XM_024452237.2",
"protein_id": "XP_024308005.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 327,
"cds_start": 197,
"cds_end": null,
"cds_length": 984,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.197A>G",
"hgvs_p": "p.Glu66Gly",
"transcript": "XM_047441349.1",
"protein_id": "XP_047297305.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 327,
"cds_start": 197,
"cds_end": null,
"cds_length": 984,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.197A>G",
"hgvs_p": "p.Glu66Gly",
"transcript": "XM_047441350.1",
"protein_id": "XP_047297306.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 327,
"cds_start": 197,
"cds_end": null,
"cds_length": 984,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 5396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Glu51Gly",
"transcript": "XM_047441351.1",
"protein_id": "XP_047297307.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 312,
"cds_start": 152,
"cds_end": null,
"cds_length": 939,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 5263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PARVB",
"gene_hgnc_id": 14653,
"dbsnp": "rs1330415354",
"frequency_reference_population": 0.0000024784774,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136818,
"gnomad_genomes_af": 0.0000131494,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19591692090034485,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.1249,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.236,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_013327.5",
"gene_symbol": "PARVB",
"hgnc_id": 14653,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.308A>G",
"hgvs_p": "p.Glu103Gly"
}
],
"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
}