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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: 1-89934777-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=89934777&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 89934777,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000337338.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "NM_001134479.2",
"protein_id": "NP_001127951.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": "ENST00000337338.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "ENST00000337338.9",
"protein_id": "ENSP00000338887.5",
"transcript_support_level": 2,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": "NM_001134479.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "ENST00000394593.7",
"protein_id": "ENSP00000378093.3",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 3345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "NM_018103.5",
"protein_id": "NP_060573.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_011541689.2",
"protein_id": "XP_011539991.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_047423940.1",
"protein_id": "XP_047279896.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_047423943.1",
"protein_id": "XP_047279899.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_047423944.1",
"protein_id": "XP_047279900.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_047423946.1",
"protein_id": "XP_047279902.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_047423947.1",
"protein_id": "XP_047279903.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2623,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_047423950.1",
"protein_id": "XP_047279906.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_047423953.1",
"protein_id": "XP_047279909.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_047423954.1",
"protein_id": "XP_047279910.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_047423956.1",
"protein_id": "XP_047279912.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 4528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"transcript": "XM_047423961.1",
"protein_id": "XP_047279917.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 858,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 15581,
"cdna_end": null,
"cdna_length": 17415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LRRC8D",
"gene_hgnc_id": 16992,
"dbsnp": "rs765538578",
"frequency_reference_population": 0.00001672825,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000171015,
"gnomad_genomes_af": 0.0000131427,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4258621335029602,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.0773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.325,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000337338.9",
"gene_symbol": "LRRC8D",
"hgnc_id": 16992,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser"
}
],
"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
}