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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: 1-160127704-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160127704&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP1A2",
"hgnc_id": 800,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Arg",
"inheritance_mode": "AD,AR",
"pathogenic_score": 23,
"score": 23,
"transcript": "NM_000702.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 23,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9995,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " 2, familial hemiplegic,Familial hemiplegic migraine,Migraine",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9921747446060181,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "G",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 3063,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000702.4",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361216.8",
"protein_coding": true,
"protein_id": "NP_000693.1",
"strand": true,
"transcript": "NM_000702.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "G",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 3063,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000361216.8",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000702.4",
"protein_coding": true,
"protein_id": "ENSP00000354490.3",
"strand": true,
"transcript": "ENST00000361216.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1028,
"aa_ref": "G",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 3087,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857225.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527284.1",
"strand": true,
"transcript": "ENST00000857225.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "G",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5433,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 3060,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969831.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639890.1",
"strand": true,
"transcript": "ENST00000969831.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "G",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5415,
"cdna_start": 995,
"cds_end": null,
"cds_length": 3054,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969832.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Gly298Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639891.1",
"strand": true,
"transcript": "ENST00000969832.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "G",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5405,
"cdna_start": 970,
"cds_end": null,
"cds_length": 3033,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857224.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Gly291Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527283.1",
"strand": true,
"transcript": "ENST00000857224.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "G",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 986,
"cds_end": null,
"cds_length": 3030,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000392233.7",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376066.3",
"strand": true,
"transcript": "ENST00000392233.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 999,
"aa_ref": "G",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5372,
"cdna_start": 937,
"cds_end": null,
"cds_length": 3000,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857223.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Gly280Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527282.1",
"strand": true,
"transcript": "ENST00000857223.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 952,
"aa_ref": "G",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4283,
"cdna_start": 801,
"cds_end": null,
"cds_length": 2859,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969833.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Gly233Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639892.1",
"strand": true,
"transcript": "ENST00000969833.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 713,
"aa_ref": "G",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4413,
"cdna_start": 33,
"cds_end": null,
"cds_length": 2142,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000447527.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Gly11Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411705.1",
"strand": true,
"transcript": "ENST00000447527.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000472488.5",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "n.1004G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000472488.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121918612",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Migraine, familial hemiplegic, 2|Familial hemiplegic migraine",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.968,
"pos": 160127704,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.938,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_000702.4"
}
]
}