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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: 20-47072204-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=47072204&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 47072204,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005244.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "NM_005244.5",
"protein_id": "NP_005235.3",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 538,
"cds_start": 435,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327619.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005244.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "ENST00000327619.10",
"protein_id": "ENSP00000333640.5",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 538,
"cds_start": 435,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005244.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327619.10"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "ENST00000317304.10",
"protein_id": "ENSP00000321590.6",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 508,
"cds_start": 435,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317304.10"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "ENST00000357410.7",
"protein_id": "ENSP00000349986.3",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 459,
"cds_start": 435,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357410.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "ENST00000858536.1",
"protein_id": "ENSP00000528595.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 538,
"cds_start": 435,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858536.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "ENST00000858537.1",
"protein_id": "ENSP00000528596.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 538,
"cds_start": 435,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858537.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "ENST00000858538.1",
"protein_id": "ENSP00000528597.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 538,
"cds_start": 435,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858538.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "ENST00000931918.1",
"protein_id": "ENSP00000601977.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 510,
"cds_start": 435,
"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": "ENST00000931918.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "ENST00000611592.4",
"protein_id": "ENSP00000483392.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 508,
"cds_start": 435,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611592.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Gln106His",
"transcript": "ENST00000858534.1",
"protein_id": "ENSP00000528593.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 499,
"cds_start": 318,
"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": "ENST00000858534.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "NM_172110.4",
"protein_id": "NP_742108.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 459,
"cds_start": 435,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172110.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "ENST00000957907.1",
"protein_id": "ENSP00000627965.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 352,
"cds_start": 435,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957907.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "XM_047440010.1",
"protein_id": "XP_047295966.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 538,
"cds_start": 435,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440010.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His",
"transcript": "XM_017027721.3",
"protein_id": "XP_016883210.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 508,
"cds_start": 435,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027721.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.416-17035A>C",
"hgvs_p": null,
"transcript": "ENST00000858535.1",
"protein_id": "ENSP00000528594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.416-17035A>C",
"hgvs_p": null,
"transcript": "ENST00000957905.1",
"protein_id": "ENSP00000627964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.275-17035A>C",
"hgvs_p": null,
"transcript": "ENST00000458636.2",
"protein_id": "ENSP00000395427.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458636.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"hgvs_c": "c.416-17035A>C",
"hgvs_p": null,
"transcript": "XM_005260327.3",
"protein_id": "XP_005260384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260327.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL27AP9",
"gene_hgnc_id": 56964,
"hgvs_c": "n.340A>C",
"hgvs_p": null,
"transcript": "ENST00000429337.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "processed_pseudogene",
"feature": "ENST00000429337.1"
}
],
"gene_symbol": "EYA2",
"gene_hgnc_id": 3520,
"dbsnp": "rs1211922780",
"frequency_reference_population": 0.0000030994836,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273785,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4241659343242645,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.454,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1179,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.415,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_005244.5",
"gene_symbol": "EYA2",
"hgnc_id": 3520,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.435A>C",
"hgvs_p": "p.Gln145His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000429337.1",
"gene_symbol": "RPL27AP9",
"hgnc_id": 56964,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.340A>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
}