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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: 1-100731231-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100731231&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 100731231,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000294728.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCAM1",
"gene_hgnc_id": 12663,
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Gly413Asp",
"transcript": "NM_001078.4",
"protein_id": "NP_001069.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 739,
"cds_start": 1238,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": "ENST00000294728.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCAM1",
"gene_hgnc_id": 12663,
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Gly413Asp",
"transcript": "ENST00000294728.7",
"protein_id": "ENSP00000294728.2",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 739,
"cds_start": 1238,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": "NM_001078.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCAM1",
"gene_hgnc_id": 12663,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Gly321Asp",
"transcript": "ENST00000347652.6",
"protein_id": "ENSP00000304611.2",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 647,
"cds_start": 962,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCAM1",
"gene_hgnc_id": 12663,
"hgvs_c": "c.1052G>A",
"hgvs_p": "p.Gly351Asp",
"transcript": "NM_001199834.2",
"protein_id": "NP_001186763.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 677,
"cds_start": 1052,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCAM1",
"gene_hgnc_id": 12663,
"hgvs_c": "c.1052G>A",
"hgvs_p": "p.Gly351Asp",
"transcript": "ENST00000370119.8",
"protein_id": "ENSP00000359137.3",
"transcript_support_level": 2,
"aa_start": 351,
"aa_end": null,
"aa_length": 677,
"cds_start": 1052,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCAM1",
"gene_hgnc_id": 12663,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Gly321Asp",
"transcript": "NM_080682.3",
"protein_id": "NP_542413.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 647,
"cds_start": 962,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 2825,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCAM1",
"gene_hgnc_id": 12663,
"hgvs_c": "n.*787G>A",
"hgvs_p": null,
"transcript": "ENST00000650339.1",
"protein_id": "ENSP00000497582.1",
"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": 2985,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCAM1",
"gene_hgnc_id": 12663,
"hgvs_c": "n.*787G>A",
"hgvs_p": null,
"transcript": "ENST00000650339.1",
"protein_id": "ENSP00000497582.1",
"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": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "VCAM1",
"gene_hgnc_id": 12663,
"hgvs_c": "c.929-1187G>A",
"hgvs_p": null,
"transcript": "ENST00000370115.1",
"protein_id": "ENSP00000359133.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299357",
"gene_hgnc_id": null,
"hgvs_c": "n.154+4453C>T",
"hgvs_p": null,
"transcript": "ENST00000762830.1",
"protein_id": null,
"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": 432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VCAM1",
"gene_hgnc_id": 12663,
"dbsnp": "rs3783613",
"frequency_reference_population": 0.0000062007275,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000410781,
"gnomad_genomes_af": 0.0000263019,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07027554512023926,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.0891,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.071,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000294728.7",
"gene_symbol": "VCAM1",
"hgnc_id": 12663,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Gly413Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000762830.1",
"gene_symbol": "ENSG00000299357",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.154+4453C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}