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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: 6-34773463-CCC-TCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=34773463&ref=CCC&alt=TCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SNRPC",
"hgnc_id": 11157,
"hgvs_c": "c.373_375delCCCinsTCA",
"hgvs_p": "p.Pro125Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003093.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"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": 159,
"aa_ref": "P",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 806,
"cdna_start": 412,
"cds_end": null,
"cds_length": 480,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003093.3",
"gene_hgnc_id": 11157,
"gene_symbol": "SNRPC",
"hgvs_c": "c.373_375delCCCinsTCA",
"hgvs_p": "p.Pro125Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000244520.10",
"protein_coding": true,
"protein_id": "NP_003084.1",
"strand": true,
"transcript": "NM_003093.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 159,
"aa_ref": "P",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 806,
"cdna_start": 412,
"cds_end": null,
"cds_length": 480,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000244520.10",
"gene_hgnc_id": 11157,
"gene_symbol": "SNRPC",
"hgvs_c": "c.373_375delCCCinsTCA",
"hgvs_p": "p.Pro125Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003093.3",
"protein_coding": true,
"protein_id": "ENSP00000244520.5",
"strand": true,
"transcript": "ENST00000244520.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 180,
"aa_ref": "P",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1054,
"cdna_start": 723,
"cds_end": null,
"cds_length": 543,
"cds_start": 436,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374017.3",
"gene_hgnc_id": 11157,
"gene_symbol": "SNRPC",
"hgvs_c": "c.436_438delCCCinsTCA",
"hgvs_p": "p.Pro146Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363129.3",
"strand": true,
"transcript": "ENST00000374017.3",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 178,
"aa_ref": "P",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 813,
"cdna_start": 482,
"cds_end": null,
"cds_length": 537,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909265.1",
"gene_hgnc_id": 11157,
"gene_symbol": "SNRPC",
"hgvs_c": "c.430_432delCCCinsTCA",
"hgvs_p": "p.Pro144Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579324.1",
"strand": true,
"transcript": "ENST00000909265.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 129,
"aa_ref": "P",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 666,
"cdna_start": 335,
"cds_end": null,
"cds_length": 390,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924367.1",
"gene_hgnc_id": 11157,
"gene_symbol": "SNRPC",
"hgvs_c": "c.283_285delCCCinsTCA",
"hgvs_p": "p.Pro95Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594426.1",
"strand": true,
"transcript": "ENST00000924367.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 124,
"aa_ref": "P",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 725,
"cdna_start": 358,
"cds_end": null,
"cds_length": 375,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924366.1",
"gene_hgnc_id": 11157,
"gene_symbol": "SNRPC",
"hgvs_c": "c.268_270delCCCinsTCA",
"hgvs_p": "p.Pro90Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594425.1",
"strand": true,
"transcript": "ENST00000924366.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 118,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 600,
"cdna_start": 349,
"cds_end": null,
"cds_length": 357,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374018.5",
"gene_hgnc_id": 11157,
"gene_symbol": "SNRPC",
"hgvs_c": "c.250_252delCCCinsTCA",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363130.1",
"strand": true,
"transcript": "ENST00000374018.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 511,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000474635.1",
"gene_hgnc_id": 11157,
"gene_symbol": "SNRPC",
"hgvs_c": "n.442_444delCCCinsTCA",
"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": "ENST00000474635.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 763,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_029472.2",
"gene_hgnc_id": 11157,
"gene_symbol": "SNRPC",
"hgvs_c": "n.369_371delCCCinsTCA",
"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": "NR_029472.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 11157,
"gene_symbol": "SNRPC",
"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": 7.5,
"pos": 34773463,
"ref": "CCC",
"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_003093.3"
}
]
}