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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: 22-38087244-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38087244&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38087244,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_025045.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ala380Val",
"transcript": "NM_025045.6",
"protein_id": "NP_079321.3",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 529,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381669.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025045.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ala380Val",
"transcript": "ENST00000381669.8",
"protein_id": "ENSP00000371085.3",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 529,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025045.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381669.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1157C>T",
"hgvs_p": "p.Ala386Val",
"transcript": "ENST00000871592.1",
"protein_id": "ENSP00000541651.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 535,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871592.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ala380Val",
"transcript": "ENST00000871591.1",
"protein_id": "ENSP00000541650.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 529,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871591.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ala378Val",
"transcript": "ENST00000871593.1",
"protein_id": "ENSP00000541652.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 527,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871593.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Ala371Val",
"transcript": "ENST00000947326.1",
"protein_id": "ENSP00000617385.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 520,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947326.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Ala255Val",
"transcript": "ENST00000332536.10",
"protein_id": "ENSP00000328876.7",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 404,
"cds_start": 764,
"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": "ENST00000332536.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.212C>T",
"hgvs_p": "p.Ala71Val",
"transcript": "ENST00000428572.1",
"protein_id": "ENSP00000410074.1",
"transcript_support_level": 3,
"aa_start": 71,
"aa_end": null,
"aa_length": 196,
"cds_start": 212,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428572.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ala380Val",
"transcript": "XM_005261751.5",
"protein_id": "XP_005261808.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 529,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261751.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ala380Val",
"transcript": "XM_011530379.4",
"protein_id": "XP_011528681.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 515,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530379.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1085C>T",
"hgvs_p": "p.Ala362Val",
"transcript": "XM_011530380.4",
"protein_id": "XP_011528682.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 511,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530380.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1082C>T",
"hgvs_p": "p.Ala361Val",
"transcript": "XM_011530381.3",
"protein_id": "XP_011528683.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 510,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530381.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1082C>T",
"hgvs_p": "p.Ala361Val",
"transcript": "XM_011530382.3",
"protein_id": "XP_011528684.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 510,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530382.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Ala356Val",
"transcript": "XM_011530383.3",
"protein_id": "XP_011528685.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 505,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530383.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.1049C>T",
"hgvs_p": "p.Ala350Val",
"transcript": "XM_011530384.3",
"protein_id": "XP_011528686.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 499,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530384.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"transcript": "XM_011530386.3",
"protein_id": "XP_011528688.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 334,
"cds_start": 554,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530386.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"transcript": "XM_011530387.4",
"protein_id": "XP_011528689.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 334,
"cds_start": 554,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530387.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "c.518C>T",
"hgvs_p": "p.Ala173Val",
"transcript": "XM_011530388.3",
"protein_id": "XP_011528690.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 322,
"cds_start": 518,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530388.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "n.*2544C>T",
"hgvs_p": null,
"transcript": "ENST00000679603.1",
"protein_id": "ENSP00000506595.1",
"transcript_support_level": null,
"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": "ENST00000679603.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "n.251C>T",
"hgvs_p": null,
"transcript": "ENST00000681084.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000681084.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"hgvs_c": "n.*2544C>T",
"hgvs_p": null,
"transcript": "ENST00000679603.1",
"protein_id": "ENSP00000506595.1",
"transcript_support_level": null,
"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": "ENST00000679603.1"
}
],
"gene_symbol": "BAIAP2L2",
"gene_hgnc_id": 26203,
"dbsnp": "rs763333883",
"frequency_reference_population": 0.000016186126,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000171896,
"gnomad_genomes_af": 0.00000658129,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5030718445777893,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.319,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.991,
"phylop100way_prediction": "Uncertain_significance",
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025045.6",
"gene_symbol": "BAIAP2L2",
"hgnc_id": 26203,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ala380Val"
}
],
"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
}