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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: 16-68231180-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68231180&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68231180,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001365264.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1709C>G",
"hgvs_p": "p.Pro570Arg",
"transcript": "NM_024939.3",
"protein_id": "NP_079215.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 717,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000473183.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024939.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1709C>G",
"hgvs_p": "p.Pro570Arg",
"transcript": "ENST00000473183.7",
"protein_id": "ENSP00000418748.2",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 717,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024939.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473183.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "n.1674C>G",
"hgvs_p": null,
"transcript": "ENST00000251366.7",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000251366.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1814C>G",
"hgvs_p": "p.Pro605Arg",
"transcript": "ENST00000889115.1",
"protein_id": "ENSP00000559174.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 752,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889115.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1739C>G",
"hgvs_p": "p.Pro580Arg",
"transcript": "NM_001365264.1",
"protein_id": "NP_001352193.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 727,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365264.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1739C>G",
"hgvs_p": "p.Pro580Arg",
"transcript": "ENST00000565858.5",
"protein_id": "ENSP00000454554.1",
"transcript_support_level": 2,
"aa_start": 580,
"aa_end": null,
"aa_length": 727,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565858.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1697C>G",
"hgvs_p": "p.Pro566Arg",
"transcript": "ENST00000889113.1",
"protein_id": "ENSP00000559172.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 713,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889113.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1685C>G",
"hgvs_p": "p.Pro562Arg",
"transcript": "ENST00000889117.1",
"protein_id": "ENSP00000559176.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 709,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889117.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1709C>G",
"hgvs_p": "p.Pro570Arg",
"transcript": "ENST00000929965.1",
"protein_id": "ENSP00000600024.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 706,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929965.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1634C>G",
"hgvs_p": "p.Pro545Arg",
"transcript": "ENST00000889116.1",
"protein_id": "ENSP00000559175.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 692,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889116.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1610C>G",
"hgvs_p": "p.Pro537Arg",
"transcript": "ENST00000889114.1",
"protein_id": "ENSP00000559173.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 684,
"cds_start": 1610,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889114.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1598C>G",
"hgvs_p": "p.Pro533Arg",
"transcript": "ENST00000889118.1",
"protein_id": "ENSP00000559177.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 680,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889118.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1709C>G",
"hgvs_p": "p.Pro570Arg",
"transcript": "NM_001365265.1",
"protein_id": "NP_001352194.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 641,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365265.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1706C>G",
"hgvs_p": "p.Pro569Arg",
"transcript": "XM_005256153.6",
"protein_id": "XP_005256210.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 716,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256153.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1331C>G",
"hgvs_p": "p.Pro444Arg",
"transcript": "XM_006721273.5",
"protein_id": "XP_006721336.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 591,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721273.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "n.*608+116C>G",
"hgvs_p": null,
"transcript": "ENST00000566774.1",
"protein_id": "ENSP00000463237.1",
"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": "ENST00000566774.1"
}
],
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"dbsnp": "rs913729915",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6664851903915405,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9300000071525574,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.431,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1776,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.94,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.992582827656597,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365264.1",
"gene_symbol": "ESRP2",
"hgnc_id": 26152,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1739C>G",
"hgvs_p": "p.Pro580Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}