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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: 17-20467454-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=20467454&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 20467454,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001367292.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS9B",
"gene_hgnc_id": 24842,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ser6Cys",
"transcript": "NM_001367292.2",
"protein_id": "NP_001354221.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 356,
"cds_start": 17,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000423676.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367292.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS9B",
"gene_hgnc_id": 24842,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ser6Cys",
"transcript": "ENST00000423676.8",
"protein_id": "ENSP00000388841.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 356,
"cds_start": 17,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367292.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423676.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS9B",
"gene_hgnc_id": 24842,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ser6Cys",
"transcript": "NM_001042685.3",
"protein_id": "NP_001036150.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 355,
"cds_start": 17,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042685.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS9B",
"gene_hgnc_id": 24842,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ser6Cys",
"transcript": "ENST00000324290.5",
"protein_id": "ENSP00000315564.5",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 355,
"cds_start": 17,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324290.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS9B",
"gene_hgnc_id": 24842,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ser6Cys",
"transcript": "ENST00000897463.1",
"protein_id": "ENSP00000567522.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 344,
"cds_start": 17,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897463.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS9B",
"gene_hgnc_id": 24842,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ser6Cys",
"transcript": "ENST00000897462.1",
"protein_id": "ENSP00000567521.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 324,
"cds_start": 17,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897462.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS9B",
"gene_hgnc_id": 24842,
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ser6Cys",
"transcript": "ENST00000897461.1",
"protein_id": "ENSP00000567520.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 275,
"cds_start": 17,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897461.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS9B",
"gene_hgnc_id": 24842,
"hgvs_c": "n.17C>G",
"hgvs_p": null,
"transcript": "ENST00000578481.5",
"protein_id": "ENSP00000464627.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000578481.5"
}
],
"gene_symbol": "LGALS9B",
"gene_hgnc_id": 24842,
"dbsnp": "rs4985834",
"frequency_reference_population": 0.79728043,
"hom_count_reference_population": 15379,
"allele_count_reference_population": 36997,
"gnomad_exomes_af": 0.723913,
"gnomad_genomes_af": 0.79728,
"gnomad_exomes_ac": 279969,
"gnomad_genomes_ac": 36997,
"gnomad_exomes_homalt": 120350,
"gnomad_genomes_homalt": 15379,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000013566600500780623,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.06,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.471,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001367292.2",
"gene_symbol": "LGALS9B",
"hgnc_id": 24842,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17C>G",
"hgvs_p": "p.Ser6Cys"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}