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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: 11-124754250-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=124754250&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 124754250,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138961.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "NM_138961.3",
"protein_id": "NP_620411.2",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 390,
"cds_start": 821,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278927.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138961.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln",
"transcript": "ENST00000278927.10",
"protein_id": "ENSP00000278927.5",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 390,
"cds_start": 821,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138961.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278927.10"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "n.*94G>A",
"hgvs_p": null,
"transcript": "ENST00000417453.5",
"protein_id": "ENSP00000389235.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000417453.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "n.*94G>A",
"hgvs_p": null,
"transcript": "ENST00000417453.5",
"protein_id": "ENSP00000389235.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000417453.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313Gln",
"transcript": "ENST00000906451.1",
"protein_id": "ENSP00000576510.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 429,
"cds_start": 938,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906451.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Arg291Gln",
"transcript": "ENST00000942606.1",
"protein_id": "ENSP00000612665.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 407,
"cds_start": 872,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942606.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000906452.1",
"protein_id": "ENSP00000576511.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 387,
"cds_start": 812,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906452.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Arg258Gln",
"transcript": "ENST00000906450.1",
"protein_id": "ENSP00000576508.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 374,
"cds_start": 773,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906450.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Gln",
"transcript": "ENST00000906453.1",
"protein_id": "ENSP00000576512.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 338,
"cds_start": 665,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906453.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "ENST00000942605.1",
"protein_id": "ENSP00000612664.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 211,
"cds_start": 284,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942605.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Arg147Gln",
"transcript": "ENST00000435477.1",
"protein_id": "ENSP00000415893.1",
"transcript_support_level": 3,
"aa_start": 147,
"aa_end": null,
"aa_length": 147,
"cds_start": 440,
"cds_end": null,
"cds_length": 445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435477.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "c.284G>A",
"hgvs_p": "p.Arg95Gln",
"transcript": "ENST00000444566.5",
"protein_id": "ENSP00000406689.1",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 140,
"cds_start": 284,
"cds_end": null,
"cds_length": 424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444566.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "n.1537G>A",
"hgvs_p": null,
"transcript": "ENST00000464067.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000464067.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"hgvs_c": "n.1367G>A",
"hgvs_p": null,
"transcript": "ENST00000485116.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000485116.5"
}
],
"gene_symbol": "ESAM",
"gene_hgnc_id": 17474,
"dbsnp": "rs745435981",
"frequency_reference_population": 0.000033459695,
"hom_count_reference_population": 1,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000212067,
"gnomad_genomes_af": 0.000151234,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11453664302825928,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.0687,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.373,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_138961.3",
"gene_symbol": "ESAM",
"hgnc_id": 17474,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Arg274Gln"
}
],
"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
}