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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: 17-4937791-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4937791&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4937791,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003562.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.895T>G",
"hgvs_p": "p.Phe299Val",
"transcript": "NM_003562.5",
"protein_id": "NP_003553.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 314,
"cds_start": 895,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225665.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003562.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.895T>G",
"hgvs_p": "p.Phe299Val",
"transcript": "ENST00000225665.12",
"protein_id": "ENSP00000225665.7",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 314,
"cds_start": 895,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003562.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225665.12"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.979T>G",
"hgvs_p": "p.Phe327Val",
"transcript": "ENST00000940187.1",
"protein_id": "ENSP00000610246.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 342,
"cds_start": 979,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940187.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.862T>G",
"hgvs_p": "p.Phe288Val",
"transcript": "NM_001165417.2",
"protein_id": "NP_001158889.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 303,
"cds_start": 862,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165417.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.862T>G",
"hgvs_p": "p.Phe288Val",
"transcript": "ENST00000576951.1",
"protein_id": "ENSP00000458993.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 295,
"cds_start": 862,
"cds_end": null,
"cds_length": 890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576951.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.826T>G",
"hgvs_p": "p.Phe276Val",
"transcript": "ENST00000868917.1",
"protein_id": "ENSP00000538976.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 291,
"cds_start": 826,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868917.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.796T>G",
"hgvs_p": "p.Phe266Val",
"transcript": "ENST00000868914.1",
"protein_id": "ENSP00000538973.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 281,
"cds_start": 796,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868914.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.748T>G",
"hgvs_p": "p.Phe250Val",
"transcript": "ENST00000868916.1",
"protein_id": "ENSP00000538975.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 265,
"cds_start": 748,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868916.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.742T>G",
"hgvs_p": "p.Phe248Val",
"transcript": "NM_001165418.2",
"protein_id": "NP_001158890.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 263,
"cds_start": 742,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165418.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.742T>G",
"hgvs_p": "p.Phe248Val",
"transcript": "ENST00000544061.6",
"protein_id": "ENSP00000440804.2",
"transcript_support_level": 3,
"aa_start": 248,
"aa_end": null,
"aa_length": 263,
"cds_start": 742,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544061.6"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.709T>G",
"hgvs_p": "p.Phe237Val",
"transcript": "ENST00000868918.1",
"protein_id": "ENSP00000538977.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 252,
"cds_start": 709,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868918.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "c.535T>G",
"hgvs_p": "p.Phe179Val",
"transcript": "ENST00000868915.1",
"protein_id": "ENSP00000538974.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 194,
"cds_start": 535,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868915.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"hgvs_c": "n.1702T>G",
"hgvs_p": null,
"transcript": "ENST00000574710.1",
"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": "ENST00000574710.1"
}
],
"gene_symbol": "SLC25A11",
"gene_hgnc_id": 10981,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7399465441703796,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.649,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6278,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.534,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003562.5",
"gene_symbol": "SLC25A11",
"hgnc_id": 10981,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.895T>G",
"hgvs_p": "p.Phe299Val"
}
],
"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
}