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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: 5-77035624-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=77035624&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 77035624,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000312916.12",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGGF1",
"gene_hgnc_id": 24684,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Glu133Lys",
"transcript": "NM_018046.5",
"protein_id": "NP_060516.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 714,
"cds_start": 397,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": "ENST00000312916.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGGF1",
"gene_hgnc_id": 24684,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Glu133Lys",
"transcript": "ENST00000312916.12",
"protein_id": "ENSP00000316109.7",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 714,
"cds_start": 397,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": "NM_018046.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "AGGF1",
"gene_hgnc_id": 24684,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Glu133Lys",
"transcript": "ENST00000506806.1",
"protein_id": "ENSP00000424733.1",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 176,
"cds_start": 397,
"cds_end": null,
"cds_length": 531,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1142,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGGF1",
"gene_hgnc_id": 24684,
"hgvs_c": "n.*123G>A",
"hgvs_p": null,
"transcript": "ENST00000502408.1",
"protein_id": "ENSP00000420874.1",
"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": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285000",
"gene_hgnc_id": null,
"hgvs_c": "n.262G>A",
"hgvs_p": null,
"transcript": "ENST00000646704.1",
"protein_id": "ENSP00000495089.1",
"transcript_support_level": null,
"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": 2348,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGGF1",
"gene_hgnc_id": 24684,
"hgvs_c": "n.*123G>A",
"hgvs_p": null,
"transcript": "ENST00000502408.1",
"protein_id": "ENSP00000420874.1",
"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": 825,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGGF1",
"gene_hgnc_id": 24684,
"hgvs_c": "n.414G>A",
"hgvs_p": null,
"transcript": "ENST00000503538.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGGF1",
"gene_hgnc_id": 24684,
"dbsnp": "rs34203073",
"frequency_reference_population": 0.013816079,
"hom_count_reference_population": 196,
"allele_count_reference_population": 22291,
"gnomad_exomes_af": 0.0142167,
"gnomad_genomes_af": 0.00996911,
"gnomad_exomes_ac": 20774,
"gnomad_genomes_ac": 1517,
"gnomad_exomes_homalt": 182,
"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0030573606491088867,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.0667,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.046,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000312916.12",
"gene_symbol": "AGGF1",
"hgnc_id": 24684,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Glu133Lys"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000646704.1",
"gene_symbol": "ENSG00000285000",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.262G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}