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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: 7-138917686-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=138917686&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 138917686,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001164665.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1549",
"gene_hgnc_id": 22219,
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Ser647Cys",
"transcript": "NM_001164665.2",
"protein_id": "NP_001158137.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 1950,
"cds_start": 1940,
"cds_end": null,
"cds_length": 5853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000422774.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164665.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1549",
"gene_hgnc_id": 22219,
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Ser647Cys",
"transcript": "ENST00000422774.2",
"protein_id": "ENSP00000416040.2",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 1950,
"cds_start": 1940,
"cds_end": null,
"cds_length": 5853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164665.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422774.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1549",
"gene_hgnc_id": 22219,
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Ser647Cys",
"transcript": "ENST00000440172.5",
"protein_id": "ENSP00000406661.1",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 1934,
"cds_start": 1940,
"cds_end": null,
"cds_length": 5805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440172.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1549",
"gene_hgnc_id": 22219,
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Ser647Cys",
"transcript": "NM_020910.3",
"protein_id": "NP_065961.2",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 1934,
"cds_start": 1940,
"cds_end": null,
"cds_length": 5805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020910.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1549",
"gene_hgnc_id": 22219,
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Ser647Cys",
"transcript": "ENST00000924635.1",
"protein_id": "ENSP00000594694.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 1808,
"cds_start": 1940,
"cds_end": null,
"cds_length": 5427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924635.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIAA1549",
"gene_hgnc_id": 22219,
"hgvs_c": "c.188-5226C>G",
"hgvs_p": null,
"transcript": "ENST00000948657.1",
"protein_id": "ENSP00000618716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1058,
"cds_start": null,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948657.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIAA1549",
"gene_hgnc_id": 22219,
"hgvs_c": "c.188-5226C>G",
"hgvs_p": null,
"transcript": "ENST00000924634.1",
"protein_id": "ENSP00000594693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1053,
"cds_start": null,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924634.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIAA1549",
"gene_hgnc_id": 22219,
"hgvs_c": "c.188-5226C>G",
"hgvs_p": null,
"transcript": "ENST00000948658.1",
"protein_id": "ENSP00000618717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": null,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948658.1"
}
],
"gene_symbol": "KIAA1549",
"gene_hgnc_id": 22219,
"dbsnp": "rs61734132",
"frequency_reference_population": 0.06520391,
"hom_count_reference_population": 3863,
"allele_count_reference_population": 104941,
"gnomad_exomes_af": 0.0662669,
"gnomad_genomes_af": 0.0550294,
"gnomad_exomes_ac": 96563,
"gnomad_genomes_ac": 8378,
"gnomad_exomes_homalt": 3577,
"gnomad_genomes_homalt": 286,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0020231008529663086,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.937,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001164665.2",
"gene_symbol": "KIAA1549",
"hgnc_id": 22219,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1940C>G",
"hgvs_p": "p.Ser647Cys"
}
],
"clinvar_disease": "Retinitis pigmentosa 86,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|Retinitis pigmentosa 86",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}