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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: 22-46297440-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=46297440&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 46297440,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016426.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTSE1",
"gene_hgnc_id": 13698,
"hgvs_c": "c.40C>G",
"hgvs_p": "p.Arg14Gly",
"transcript": "NM_016426.7",
"protein_id": "NP_057510.5",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 739,
"cds_start": 40,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": "ENST00000454366.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016426.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTSE1",
"gene_hgnc_id": 13698,
"hgvs_c": "c.40C>G",
"hgvs_p": "p.Arg14Gly",
"transcript": "ENST00000454366.2",
"protein_id": "ENSP00000415430.1",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 739,
"cds_start": 40,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": "NM_016426.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454366.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTSE1",
"gene_hgnc_id": 13698,
"hgvs_c": "c.40C>G",
"hgvs_p": "p.Arg14Gly",
"transcript": "ENST00000926492.1",
"protein_id": "ENSP00000596551.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 739,
"cds_start": 40,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926492.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTSE1",
"gene_hgnc_id": 13698,
"hgvs_c": "c.40C>G",
"hgvs_p": "p.Arg14Gly",
"transcript": "ENST00000926491.1",
"protein_id": "ENSP00000596550.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 684,
"cds_start": 40,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926491.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTSE1",
"gene_hgnc_id": 13698,
"hgvs_c": "c.40C>G",
"hgvs_p": "p.Arg14Gly",
"transcript": "ENST00000905433.1",
"protein_id": "ENSP00000575492.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 666,
"cds_start": 40,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905433.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTSE1",
"gene_hgnc_id": 13698,
"hgvs_c": "c.40C>G",
"hgvs_p": "p.Arg14Gly",
"transcript": "ENST00000926490.1",
"protein_id": "ENSP00000596549.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 666,
"cds_start": 40,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926490.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTSE1",
"gene_hgnc_id": 13698,
"hgvs_c": "c.40C>G",
"hgvs_p": "p.Arg14Gly",
"transcript": "XM_047441391.1",
"protein_id": "XP_047297347.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 739,
"cds_start": 40,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441391.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTSE1",
"gene_hgnc_id": 13698,
"hgvs_c": "c.40C>G",
"hgvs_p": "p.Arg14Gly",
"transcript": "XM_047441392.1",
"protein_id": "XP_047297348.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 578,
"cds_start": 40,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTSE1",
"gene_hgnc_id": 13698,
"hgvs_c": "n.123C>G",
"hgvs_p": null,
"transcript": "XR_007067974.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067974.1"
}
],
"gene_symbol": "GTSE1",
"gene_hgnc_id": 13698,
"dbsnp": "rs201036893",
"frequency_reference_population": 0.0016687115,
"hom_count_reference_population": 52,
"allele_count_reference_population": 2693,
"gnomad_exomes_af": 0.00173177,
"gnomad_genomes_af": 0.00106362,
"gnomad_exomes_ac": 2531,
"gnomad_genomes_ac": 162,
"gnomad_exomes_homalt": 50,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002400040626525879,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0802,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.228,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016426.7",
"gene_symbol": "GTSE1",
"hgnc_id": 13698,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.40C>G",
"hgvs_p": "p.Arg14Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}