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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: X-53383248-GGC-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53383248&ref=GGC&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SMC1A",
"hgnc_id": 11111,
"hgvs_c": "c.2977_2979delGCCinsTCG",
"hgvs_p": "p.Ala993Ser",
"inheritance_mode": "XL,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_006306.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1233,
"aa_ref": "A",
"aa_start": 993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9710,
"cdna_start": 3033,
"cds_end": null,
"cds_length": 3702,
"cds_start": 2977,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006306.4",
"gene_hgnc_id": 11111,
"gene_symbol": "SMC1A",
"hgvs_c": "c.2977_2979delGCCinsTCG",
"hgvs_p": "p.Ala993Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000322213.9",
"protein_coding": true,
"protein_id": "NP_006297.2",
"strand": false,
"transcript": "NM_006306.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1233,
"aa_ref": "A",
"aa_start": 993,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9710,
"cdna_start": 3033,
"cds_end": null,
"cds_length": 3702,
"cds_start": 2977,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000322213.9",
"gene_hgnc_id": 11111,
"gene_symbol": "SMC1A",
"hgvs_c": "c.2977_2979delGCCinsTCG",
"hgvs_p": "p.Ala993Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006306.4",
"protein_coding": true,
"protein_id": "ENSP00000323421.3",
"strand": false,
"transcript": "ENST00000322213.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "A",
"aa_start": 971,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9930,
"cdna_start": 3253,
"cds_end": null,
"cds_length": 3636,
"cds_start": 2911,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375340.10",
"gene_hgnc_id": 11111,
"gene_symbol": "SMC1A",
"hgvs_c": "c.2911_2913delGCCinsTCG",
"hgvs_p": "p.Ala971Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364489.7",
"strand": false,
"transcript": "ENST00000375340.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "A",
"aa_start": 971,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9930,
"cdna_start": 3253,
"cds_end": null,
"cds_length": 3636,
"cds_start": 2911,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001281463.1",
"gene_hgnc_id": 11111,
"gene_symbol": "SMC1A",
"hgvs_c": "c.2911_2913delGCCinsTCG",
"hgvs_p": "p.Ala971Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268392.1",
"strand": false,
"transcript": "NM_001281463.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "A",
"aa_start": 971,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9826,
"cdna_start": 3149,
"cds_end": null,
"cds_length": 3636,
"cds_start": 2911,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675504.1",
"gene_hgnc_id": 11111,
"gene_symbol": "SMC1A",
"hgvs_c": "c.2911_2913delGCCinsTCG",
"hgvs_p": "p.Ala971Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502524.1",
"strand": false,
"transcript": "ENST00000675504.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "A",
"aa_start": 871,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5540,
"cdna_start": 2690,
"cds_end": null,
"cds_length": 3336,
"cds_start": 2611,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947776.1",
"gene_hgnc_id": 11111,
"gene_symbol": "SMC1A",
"hgvs_c": "c.2611_2613delGCCinsTCG",
"hgvs_p": "p.Ala871Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617835.1",
"strand": false,
"transcript": "ENST00000947776.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 999,
"aa_ref": "A",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4734,
"cdna_start": 2364,
"cds_end": null,
"cds_length": 3000,
"cds_start": 2275,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947777.1",
"gene_hgnc_id": 11111,
"gene_symbol": "SMC1A",
"hgvs_c": "c.2275_2277delGCCinsTCG",
"hgvs_p": "p.Ala759Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617836.1",
"strand": false,
"transcript": "ENST00000947777.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 977,
"aa_ref": "A",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674590.1",
"gene_hgnc_id": 11111,
"gene_symbol": "SMC1A",
"hgvs_c": "c.2209_2211delGCCinsTCG",
"hgvs_p": "p.Ala737Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502626.1",
"strand": false,
"transcript": "ENST00000674590.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 277,
"aa_ref": "A",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 838,
"cdna_start": 269,
"cds_end": null,
"cds_length": 836,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470241.2",
"gene_hgnc_id": 11111,
"gene_symbol": "SMC1A",
"hgvs_c": "c.265_267delGCCinsTCG",
"hgvs_p": "p.Ala89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476416.1",
"strand": false,
"transcript": "ENST00000470241.2",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 11111,
"gene_symbol": "SMC1A",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.981,
"pos": 53383248,
"ref": "GGC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_006306.4"
}
]
}