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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: 4-78595800-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=78595800&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 78595800,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005139.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "NM_005139.3",
"protein_id": "NP_005130.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 323,
"cds_start": 547,
"cds_end": null,
"cds_length": 972,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": "ENST00000264908.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005139.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000264908.11",
"protein_id": "ENSP00000264908.6",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 323,
"cds_start": 547,
"cds_end": null,
"cds_length": 972,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": "NM_005139.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264908.11"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000943168.1",
"protein_id": "ENSP00000613227.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 354,
"cds_start": 547,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943168.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000904772.1",
"protein_id": "ENSP00000574831.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 333,
"cds_start": 547,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904772.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000904775.1",
"protein_id": "ENSP00000574834.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 323,
"cds_start": 547,
"cds_end": null,
"cds_length": 972,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904775.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000904776.1",
"protein_id": "ENSP00000574835.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 323,
"cds_start": 547,
"cds_end": null,
"cds_length": 972,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904776.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000904777.1",
"protein_id": "ENSP00000574836.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 323,
"cds_start": 547,
"cds_end": null,
"cds_length": 972,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904777.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000927505.1",
"protein_id": "ENSP00000597564.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 323,
"cds_start": 547,
"cds_end": null,
"cds_length": 972,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927505.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000943165.1",
"protein_id": "ENSP00000613224.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 323,
"cds_start": 547,
"cds_end": null,
"cds_length": 972,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943165.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Tyr182His",
"transcript": "ENST00000943167.1",
"protein_id": "ENSP00000613226.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 322,
"cds_start": 544,
"cds_end": null,
"cds_length": 969,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943167.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000904771.1",
"protein_id": "ENSP00000574830.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 297,
"cds_start": 547,
"cds_end": null,
"cds_length": 894,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904771.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000943166.1",
"protein_id": "ENSP00000613225.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 291,
"cds_start": 547,
"cds_end": null,
"cds_length": 876,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943166.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.433T>C",
"hgvs_p": "p.Tyr145His",
"transcript": "ENST00000904773.1",
"protein_id": "ENSP00000574832.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 285,
"cds_start": 433,
"cds_end": null,
"cds_length": 858,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904773.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.430T>C",
"hgvs_p": "p.Tyr144His",
"transcript": "ENST00000503570.6",
"protein_id": "ENSP00000421015.2",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 284,
"cds_start": 430,
"cds_end": null,
"cds_length": 855,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503570.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.430T>C",
"hgvs_p": "p.Tyr144His",
"transcript": "ENST00000512884.5",
"protein_id": "ENSP00000423068.1",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 284,
"cds_start": 430,
"cds_end": null,
"cds_length": 855,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512884.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000904774.1",
"protein_id": "ENSP00000574833.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 282,
"cds_start": 547,
"cds_end": null,
"cds_length": 849,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904774.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Tyr126His",
"transcript": "ENST00000927506.1",
"protein_id": "ENSP00000597565.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 266,
"cds_start": 376,
"cds_end": null,
"cds_length": 801,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 1273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927506.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.364T>C",
"hgvs_p": "p.Tyr122His",
"transcript": "ENST00000927507.1",
"protein_id": "ENSP00000597566.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 262,
"cds_start": 364,
"cds_end": null,
"cds_length": 789,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927507.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Tyr27His",
"transcript": "ENST00000512542.5",
"protein_id": "ENSP00000426591.1",
"transcript_support_level": 3,
"aa_start": 27,
"aa_end": null,
"aa_length": 54,
"cds_start": 79,
"cds_end": null,
"cds_length": 166,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512542.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "XM_047450154.1",
"protein_id": "XP_047306110.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 264,
"cds_start": 547,
"cds_end": null,
"cds_length": 795,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450154.1"
}
],
"gene_symbol": "ANXA3",
"gene_hgnc_id": 541,
"dbsnp": "rs141392132",
"frequency_reference_population": 0.00008009261,
"hom_count_reference_population": 0,
"allele_count_reference_population": 128,
"gnomad_exomes_af": 0.0000802255,
"gnomad_genomes_af": 0.0000788302,
"gnomad_exomes_ac": 116,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6636172533035278,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2331,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.343,
"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_005139.3",
"gene_symbol": "ANXA3",
"hgnc_id": 541,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His"
}
],
"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
}