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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: 19-51630108-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51630108&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51630108,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003830.4",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC5",
"gene_hgnc_id": 10874,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Ser49Cys",
"transcript": "NM_003830.4",
"protein_id": "NP_003821.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 551,
"cds_start": 146,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683636.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003830.4"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC5",
"gene_hgnc_id": 10874,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Ser49Cys",
"transcript": "ENST00000683636.1",
"protein_id": "ENSP00000507738.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 551,
"cds_start": 146,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003830.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683636.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC5",
"gene_hgnc_id": 10874,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Ser49Cys",
"transcript": "ENST00000958686.1",
"protein_id": "ENSP00000628745.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 560,
"cds_start": 146,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958686.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC5",
"gene_hgnc_id": 10874,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Ser49Cys",
"transcript": "NM_001384708.1",
"protein_id": "NP_001371637.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 500,
"cds_start": 146,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384708.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC5",
"gene_hgnc_id": 10874,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Ser49Cys",
"transcript": "NM_001384709.1",
"protein_id": "NP_001371638.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 456,
"cds_start": 146,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384709.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC5",
"gene_hgnc_id": 10874,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Ser49Cys",
"transcript": "ENST00000850616.1",
"protein_id": "ENSP00000520903.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 456,
"cds_start": 146,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC5",
"gene_hgnc_id": 10874,
"hgvs_c": "n.546C>G",
"hgvs_p": null,
"transcript": "ENST00000534261.4",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000534261.4"
}
],
"gene_symbol": "SIGLEC5",
"gene_hgnc_id": 10874,
"dbsnp": "rs1264119810",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.0000189092,
"gnomad_genomes_af": 0.0000870676,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09665709733963013,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.288,
"revel_prediction": "Benign",
"alphamissense_score": 0.3241,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.385,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_003830.4",
"gene_symbol": "SIGLEC5",
"hgnc_id": 10874,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Ser49Cys"
}
],
"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
}