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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: 1-243308164-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=243308164&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SDCCAG8",
"hgnc_id": 10671,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Glu338Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001350248.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 52,
"alphamissense_prediction": null,
"alphamissense_score": 0.1987,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Bardet-Biedl syndrome 16,SDCCAG8-related disorder,Senior-Loken syndrome 7",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18488049507141113,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 713,
"aa_ref": "E",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 2142,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_006642.5",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Glu306Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366541.8",
"protein_coding": true,
"protein_id": "NP_006633.1",
"strand": true,
"transcript": "NM_006642.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 713,
"aa_ref": "E",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 2142,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000366541.8",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Glu306Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006642.5",
"protein_coding": true,
"protein_id": "ENSP00000355499.3",
"strand": true,
"transcript": "ENST00000366541.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 414,
"aa_ref": "E",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 256,
"cds_end": null,
"cds_length": 1245,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000435549.1",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.256G>A",
"hgvs_p": "p.Glu86Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410200.1",
"strand": true,
"transcript": "ENST00000435549.1",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 745,
"aa_ref": "E",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1012,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001350248.2",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Glu338Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337177.1",
"strand": true,
"transcript": "NM_001350248.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 745,
"aa_ref": "E",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1012,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000884080.1",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Glu338Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554139.1",
"strand": true,
"transcript": "ENST00000884080.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 670,
"aa_ref": "E",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 2013,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884079.1",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Glu263Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554138.1",
"strand": true,
"transcript": "ENST00000884079.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 634,
"aa_ref": "E",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1905,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926803.1",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Glu306Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596862.1",
"strand": true,
"transcript": "ENST00000926803.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 615,
"aa_ref": "E",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2594,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1848,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001350249.2",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Glu208Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337178.1",
"strand": true,
"transcript": "NM_001350249.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 412,
"aa_ref": "E",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1239,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001350246.2",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Glu5Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337175.1",
"strand": true,
"transcript": "NM_001350246.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 412,
"aa_ref": "E",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 1239,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001350247.2",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Glu5Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337176.1",
"strand": true,
"transcript": "NM_001350247.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 412,
"aa_ref": "E",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1239,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350251.2",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Glu5Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337180.1",
"strand": true,
"transcript": "NM_001350251.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 682,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": null,
"cds_end": null,
"cds_length": 2049,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951623.1",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.836+3387G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621682.1",
"strand": true,
"transcript": "ENST00000951623.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 650,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": null,
"cds_end": null,
"cds_length": 1953,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951625.1",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.740+3387G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621684.1",
"strand": true,
"transcript": "ENST00000951625.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 607,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": null,
"cds_end": null,
"cds_length": 1824,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951624.1",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.611+3387G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621683.1",
"strand": true,
"transcript": "ENST00000951624.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 539,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": null,
"cds_end": null,
"cds_length": 1620,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884081.1",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.546+21767G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554140.1",
"strand": true,
"transcript": "ENST00000884081.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 404,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": null,
"cds_end": null,
"cds_length": 1215,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884082.1",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "c.546+21767G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554141.1",
"strand": true,
"transcript": "ENST00000884082.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 430,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000463012.1",
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"hgvs_c": "n.276G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000463012.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs777002036",
"effect": "missense_variant",
"frequency_reference_population": 0.000032217853,
"gene_hgnc_id": 10671,
"gene_symbol": "SDCCAG8",
"gnomad_exomes_ac": 51,
"gnomad_exomes_af": 0.0000348885,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.0000065697,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Bardet-Biedl syndrome 16;Senior-Loken syndrome 7|Bardet-Biedl syndrome 16|Senior-Loken syndrome 7|SDCCAG8-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.674,
"pos": 243308164,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.242,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001350248.2"
}
]
}