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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: 1-16125229-CCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16125229&ref=CCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16125229,
"ref": "CCA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_004431.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA2",
"gene_hgnc_id": 3386,
"hgvs_c": "c.2915_2916delTG",
"hgvs_p": "p.Val972fs",
"transcript": "NM_004431.5",
"protein_id": "NP_004422.2",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 976,
"cds_start": 2915,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358432.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004431.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA2",
"gene_hgnc_id": 3386,
"hgvs_c": "c.2915_2916delTG",
"hgvs_p": "p.Val972fs",
"transcript": "ENST00000358432.8",
"protein_id": "ENSP00000351209.5",
"transcript_support_level": 1,
"aa_start": 972,
"aa_end": null,
"aa_length": 976,
"cds_start": 2915,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004431.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358432.8"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA2",
"gene_hgnc_id": 3386,
"hgvs_c": "c.2930_2931delTG",
"hgvs_p": "p.Val977fs",
"transcript": "ENST00000917106.1",
"protein_id": "ENSP00000587165.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 981,
"cds_start": 2930,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917106.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA2",
"gene_hgnc_id": 3386,
"hgvs_c": "c.2894_2895delTG",
"hgvs_p": "p.Val965fs",
"transcript": "ENST00000863593.1",
"protein_id": "ENSP00000533652.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 969,
"cds_start": 2894,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863593.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA2",
"gene_hgnc_id": 3386,
"hgvs_c": "c.2846_2847delTG",
"hgvs_p": "p.Val949fs",
"transcript": "ENST00000863594.1",
"protein_id": "ENSP00000533653.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 953,
"cds_start": 2846,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863594.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA2",
"gene_hgnc_id": 3386,
"hgvs_c": "c.2753_2754delTG",
"hgvs_p": "p.Val918fs",
"transcript": "NM_001329090.2",
"protein_id": "NP_001316019.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 922,
"cds_start": 2753,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329090.2"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA2",
"gene_hgnc_id": 3386,
"hgvs_c": "c.2906_2907delTG",
"hgvs_p": "p.Val969fs",
"transcript": "XM_047448259.1",
"protein_id": "XP_047304215.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 973,
"cds_start": 2906,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448259.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA2",
"gene_hgnc_id": 3386,
"hgvs_c": "c.2882_2883delTG",
"hgvs_p": "p.Val961fs",
"transcript": "XM_047448267.1",
"protein_id": "XP_047304223.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 965,
"cds_start": 2882,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448267.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA2",
"gene_hgnc_id": 3386,
"hgvs_c": "c.2753_2754delTG",
"hgvs_p": "p.Val918fs",
"transcript": "XM_047448272.1",
"protein_id": "XP_047304228.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 922,
"cds_start": 2753,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448272.1"
}
],
"gene_symbol": "EPHA2",
"gene_hgnc_id": 3386,
"dbsnp": "rs2024441691",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.338,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PS3,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1_Moderate",
"PS3",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_004431.5",
"gene_symbol": "EPHA2",
"hgnc_id": 3386,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2915_2916delTG",
"hgvs_p": "p.Val972fs"
}
],
"clinvar_disease": "Cataract 6 multiple types",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Cataract 6 multiple types",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}