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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: 1-6452001-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6452001&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6452001,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000645284.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2230G>A",
"hgvs_p": "p.Asp744Asn",
"transcript": "NM_031475.3",
"protein_id": "NP_113663.2",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 854,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "ENST00000645284.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2230G>A",
"hgvs_p": "p.Asp744Asn",
"transcript": "ENST00000645284.1",
"protein_id": "ENSP00000496593.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 854,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "NM_031475.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Asp178Asn",
"transcript": "ENST00000461727.6",
"protein_id": "ENSP00000465308.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 288,
"cds_start": 532,
"cds_end": null,
"cds_length": 867,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2230G>A",
"hgvs_p": "p.Asp744Asn",
"transcript": "ENST00000636330.1",
"protein_id": "ENSP00000490186.1",
"transcript_support_level": 5,
"aa_start": 744,
"aa_end": null,
"aa_length": 1362,
"cds_start": 2230,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Asp723Asn",
"transcript": "NM_001367474.1",
"protein_id": "NP_001354403.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 833,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Asp714Asn",
"transcript": "NM_001367473.1",
"protein_id": "NP_001354402.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 824,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.379G>A",
"hgvs_p": "p.Asp127Asn",
"transcript": "ENST00000633239.1",
"protein_id": "ENSP00000488071.1",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 237,
"cds_start": 379,
"cds_end": null,
"cds_length": 714,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Asp95Asn",
"transcript": "ENST00000477679.2",
"protein_id": "ENSP00000495669.1",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 205,
"cds_start": 283,
"cds_end": null,
"cds_length": 618,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.259G>A",
"hgvs_p": "p.Asp87Asn",
"transcript": "ENST00000434576.2",
"protein_id": "ENSP00000413621.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 187,
"cds_start": 259,
"cds_end": null,
"cds_length": 564,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Asp100Asn",
"transcript": "ENST00000475228.6",
"protein_id": "ENSP00000488721.2",
"transcript_support_level": 5,
"aa_start": 100,
"aa_end": null,
"aa_length": 178,
"cds_start": 298,
"cds_end": null,
"cds_length": 539,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Asp119Asn",
"transcript": "ENST00000636644.1",
"protein_id": "ENSP00000490230.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 175,
"cds_start": 355,
"cds_end": null,
"cds_length": 530,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Asp723Asn",
"transcript": "XM_011542231.1",
"protein_id": "XP_011540533.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1341,
"cds_start": 2167,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 4680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Asp714Asn",
"transcript": "XM_011542232.1",
"protein_id": "XP_011540534.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 1332,
"cds_start": 2140,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Asp517Asn",
"transcript": "XM_011542233.3",
"protein_id": "XP_011540535.2",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1549,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Asp217Asn",
"transcript": "XM_047431542.1",
"protein_id": "XP_047287498.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 835,
"cds_start": 649,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Asp723Asn",
"transcript": "XM_017002433.2",
"protein_id": "XP_016857922.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 823,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Asp187Asn",
"transcript": "XM_047431549.1",
"protein_id": "XP_047287505.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 805,
"cds_start": 559,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Asp187Asn",
"transcript": "XM_047431551.1",
"protein_id": "XP_047287507.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 805,
"cds_start": 559,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Asp119Asn",
"transcript": "XM_011542236.3",
"protein_id": "XP_011540538.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 737,
"cds_start": 355,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.*52G>A",
"hgvs_p": null,
"transcript": "ENST00000475479.2",
"protein_id": "ENSP00000496370.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"dbsnp": "rs121908135",
"frequency_reference_population": 0.00023796916,
"hom_count_reference_population": 1,
"allele_count_reference_population": 382,
"gnomad_exomes_af": 0.000254629,
"gnomad_genomes_af": 0.0000788664,
"gnomad_exomes_ac": 370,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37327709794044495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.614,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6664,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.71,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000645284.1",
"gene_symbol": "ESPN",
"hgnc_id": 13281,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.2230G>A",
"hgvs_p": "p.Asp744Asn"
}
],
"clinvar_disease": " autosomal dominant, type 1M, without vestibular involvement,Autosomal recessive nonsyndromic hearing loss 36,Deafness,Usher syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Deafness, without vestibular involvement, autosomal dominant|not provided|Autosomal recessive nonsyndromic hearing loss 36;Usher syndrome, type 1M",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}