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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: 16-68231303-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68231303&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68231303,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001365264.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.His529Arg",
"transcript": "NM_024939.3",
"protein_id": "NP_079215.2",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 717,
"cds_start": 1586,
"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": "H",
"aa_alt": "R",
"canonical": true,
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.His529Arg",
"transcript": "ENST00000473183.7",
"protein_id": "ENSP00000418748.2",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 717,
"cds_start": 1586,
"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": [
"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.1551A>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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1691A>G",
"hgvs_p": "p.His564Arg",
"transcript": "ENST00000889115.1",
"protein_id": "ENSP00000559174.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 752,
"cds_start": 1691,
"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": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "NM_001365264.1",
"protein_id": "NP_001352193.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 727,
"cds_start": 1616,
"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": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "ENST00000565858.5",
"protein_id": "ENSP00000454554.1",
"transcript_support_level": 2,
"aa_start": 539,
"aa_end": null,
"aa_length": 727,
"cds_start": 1616,
"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": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.His525Arg",
"transcript": "ENST00000889113.1",
"protein_id": "ENSP00000559172.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 713,
"cds_start": 1574,
"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": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1562A>G",
"hgvs_p": "p.His521Arg",
"transcript": "ENST00000889117.1",
"protein_id": "ENSP00000559176.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 709,
"cds_start": 1562,
"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": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1586A>G",
"hgvs_p": "p.His529Arg",
"transcript": "ENST00000929965.1",
"protein_id": "ENSP00000600024.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 706,
"cds_start": 1586,
"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": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.His504Arg",
"transcript": "ENST00000889116.1",
"protein_id": "ENSP00000559175.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 692,
"cds_start": 1511,
"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": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.His496Arg",
"transcript": "ENST00000889114.1",
"protein_id": "ENSP00000559173.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 684,
"cds_start": 1487,
"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": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1475A>G",
"hgvs_p": "p.His492Arg",
"transcript": "ENST00000889118.1",
"protein_id": "ENSP00000559177.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 680,
"cds_start": 1475,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1586A>G",
"hgvs_p": "p.His529Arg",
"transcript": "NM_001365265.1",
"protein_id": "NP_001352194.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 641,
"cds_start": 1586,
"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": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.His528Arg",
"transcript": "XM_005256153.6",
"protein_id": "XP_005256210.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 716,
"cds_start": 1583,
"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": "H",
"aa_alt": "R",
"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": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1208A>G",
"hgvs_p": "p.His403Arg",
"transcript": "XM_006721273.5",
"protein_id": "XP_006721336.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 591,
"cds_start": 1208,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "n.*601A>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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "n.*601A>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": "rs2042136078",
"frequency_reference_population": 0.0000018587223,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136812,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8512126803398132,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.622,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8171,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.969,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365264.1",
"gene_symbol": "ESRP2",
"hgnc_id": 26152,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg"
}
],
"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
}