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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: 8-23255348-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=23255348&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 23255348,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152272.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.573C>G",
"hgvs_p": "p.Cys191Trp",
"transcript": "NM_152272.5",
"protein_id": "NP_689485.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 453,
"cds_start": 573,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": "ENST00000397677.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.573C>G",
"hgvs_p": "p.Cys191Trp",
"transcript": "ENST00000397677.6",
"protein_id": "ENSP00000380794.1",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 453,
"cds_start": 573,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": "NM_152272.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.573C>G",
"hgvs_p": "p.Cys191Trp",
"transcript": "ENST00000313219.8",
"protein_id": "ENSP00000324491.7",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 453,
"cds_start": 573,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.543C>G",
"hgvs_p": null,
"transcript": "ENST00000523091.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.573C>G",
"hgvs_p": "p.Cys191Trp",
"transcript": "NM_001363183.2",
"protein_id": "NP_001350112.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 429,
"cds_start": 573,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.243C>G",
"hgvs_p": "p.Cys81Trp",
"transcript": "NM_001317899.2",
"protein_id": "NP_001304828.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 343,
"cds_start": 243,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.612C>G",
"hgvs_p": "p.Cys204Trp",
"transcript": "ENST00000519984.1",
"protein_id": "ENSP00000430661.1",
"transcript_support_level": 3,
"aa_start": 204,
"aa_end": null,
"aa_length": 208,
"cds_start": 612,
"cds_end": null,
"cds_length": 629,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.573C>G",
"hgvs_p": "p.Cys191Trp",
"transcript": "XM_047422416.1",
"protein_id": "XP_047278372.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 429,
"cds_start": 573,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "c.243C>G",
"hgvs_p": "p.Cys81Trp",
"transcript": "XM_047422417.1",
"protein_id": "XP_047278373.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 319,
"cds_start": 243,
"cds_end": null,
"cds_length": 960,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.*163C>G",
"hgvs_p": null,
"transcript": "ENST00000517325.5",
"protein_id": "ENSP00000430321.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.*193C>G",
"hgvs_p": null,
"transcript": "ENST00000519414.5",
"protein_id": "ENSP00000428233.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.401C>G",
"hgvs_p": null,
"transcript": "ENST00000519503.5",
"protein_id": "ENSP00000427948.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.438C>G",
"hgvs_p": null,
"transcript": "ENST00000519529.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.*163C>G",
"hgvs_p": null,
"transcript": "ENST00000517325.5",
"protein_id": "ENSP00000430321.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"hgvs_c": "n.*193C>G",
"hgvs_p": null,
"transcript": "ENST00000519414.5",
"protein_id": "ENSP00000428233.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHMP7",
"gene_hgnc_id": 28439,
"dbsnp": "rs554721092",
"frequency_reference_population": 0.000014248844,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000102608,
"gnomad_genomes_af": 0.0000525307,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6769276857376099,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.437,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9106,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.32,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_152272.5",
"gene_symbol": "CHMP7",
"hgnc_id": 28439,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.573C>G",
"hgvs_p": "p.Cys191Trp"
}
],
"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
}