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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: 16-68230431-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68230431&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68230431,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001365264.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.2022G>A",
"hgvs_p": "p.Thr674Thr",
"transcript": "NM_024939.3",
"protein_id": "NP_079215.2",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 717,
"cds_start": 2022,
"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": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.2022G>A",
"hgvs_p": "p.Thr674Thr",
"transcript": "ENST00000473183.7",
"protein_id": "ENSP00000418748.2",
"transcript_support_level": 1,
"aa_start": 674,
"aa_end": null,
"aa_length": 717,
"cds_start": 2022,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "n.1987G>A",
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Thr709Thr",
"transcript": "ENST00000889115.1",
"protein_id": "ENSP00000559174.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 752,
"cds_start": 2127,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.2052G>A",
"hgvs_p": "p.Thr684Thr",
"transcript": "NM_001365264.1",
"protein_id": "NP_001352193.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 727,
"cds_start": 2052,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.2052G>A",
"hgvs_p": "p.Thr684Thr",
"transcript": "ENST00000565858.5",
"protein_id": "ENSP00000454554.1",
"transcript_support_level": 2,
"aa_start": 684,
"aa_end": null,
"aa_length": 727,
"cds_start": 2052,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.2010G>A",
"hgvs_p": "p.Thr670Thr",
"transcript": "ENST00000889113.1",
"protein_id": "ENSP00000559172.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 713,
"cds_start": 2010,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1998G>A",
"hgvs_p": "p.Thr666Thr",
"transcript": "ENST00000889117.1",
"protein_id": "ENSP00000559176.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 709,
"cds_start": 1998,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1989G>A",
"hgvs_p": "p.Thr663Thr",
"transcript": "ENST00000929965.1",
"protein_id": "ENSP00000600024.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 706,
"cds_start": 1989,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1947G>A",
"hgvs_p": "p.Thr649Thr",
"transcript": "ENST00000889116.1",
"protein_id": "ENSP00000559175.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 692,
"cds_start": 1947,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1923G>A",
"hgvs_p": "p.Thr641Thr",
"transcript": "ENST00000889114.1",
"protein_id": "ENSP00000559173.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 684,
"cds_start": 1923,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Thr637Thr",
"transcript": "ENST00000889118.1",
"protein_id": "ENSP00000559177.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 680,
"cds_start": 1911,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.2019G>A",
"hgvs_p": "p.Thr673Thr",
"transcript": "XM_005256153.6",
"protein_id": "XP_005256210.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 716,
"cds_start": 2019,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1644G>A",
"hgvs_p": "p.Thr548Thr",
"transcript": "XM_006721273.5",
"protein_id": "XP_006721336.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 591,
"cds_start": 1644,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "c.1899-116G>A",
"hgvs_p": null,
"transcript": "NM_001365265.1",
"protein_id": "NP_001352194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "n.*919G>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRP2",
"gene_hgnc_id": 26152,
"hgvs_c": "n.*919G>A",
"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": "rs377157836",
"frequency_reference_population": 0.0012101224,
"hom_count_reference_population": 35,
"allele_count_reference_population": 1952,
"gnomad_exomes_af": 0.00126302,
"gnomad_genomes_af": 0.000702681,
"gnomad_exomes_ac": 1845,
"gnomad_genomes_ac": 107,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.581,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001365264.1",
"gene_symbol": "ESRP2",
"hgnc_id": 26152,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2052G>A",
"hgvs_p": "p.Thr684Thr"
}
],
"clinvar_disease": "ESRP2-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ESRP2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}