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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: 14-69778470-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=69778470&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 69778470,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003049.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.806T>A",
"hgvs_p": "p.Ile269Asn",
"transcript": "NM_003049.4",
"protein_id": "NP_003040.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 349,
"cds_start": 806,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216540.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003049.4"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.806T>A",
"hgvs_p": "p.Ile269Asn",
"transcript": "ENST00000216540.5",
"protein_id": "ENSP00000216540.4",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 349,
"cds_start": 806,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003049.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216540.5"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.857T>A",
"hgvs_p": "p.Ile286Asn",
"transcript": "ENST00000871518.1",
"protein_id": "ENSP00000541577.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 366,
"cds_start": 857,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871518.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"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": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.842T>A",
"hgvs_p": "p.Ile281Asn",
"transcript": "ENST00000871519.1",
"protein_id": "ENSP00000541578.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 361,
"cds_start": 842,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871519.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.800T>A",
"hgvs_p": "p.Ile267Asn",
"transcript": "ENST00000871517.1",
"protein_id": "ENSP00000541576.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 347,
"cds_start": 800,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871517.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.734T>A",
"hgvs_p": "p.Ile245Asn",
"transcript": "ENST00000871515.1",
"protein_id": "ENSP00000541574.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 325,
"cds_start": 734,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871515.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.416T>A",
"hgvs_p": "p.Ile139Asn",
"transcript": "ENST00000871514.1",
"protein_id": "ENSP00000541573.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 219,
"cds_start": 416,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871514.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"hgvs_c": "c.568-74T>A",
"hgvs_p": null,
"transcript": "ENST00000871516.1",
"protein_id": "ENSP00000541575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871516.1"
}
],
"gene_symbol": "SLC10A1",
"gene_hgnc_id": 10905,
"dbsnp": "rs201672997",
"frequency_reference_population": 0.000015491982,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.000016421,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8979433178901672,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.909,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9768,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.97,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003049.4",
"gene_symbol": "SLC10A1",
"hgnc_id": 10905,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.806T>A",
"hgvs_p": "p.Ile269Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}