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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: 1-160135242-GCT-AGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160135242&ref=GCT&alt=AGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP1A2",
"hgnc_id": 800,
"hgvs_c": "c.2062_2064delGCTinsAGC",
"hgvs_p": "p.Ala688Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000702.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "A",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000702.4",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.2062_2064delGCTinsAGC",
"hgvs_p": "p.Ala688Ser",
"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": "S",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "A",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361216.8",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.2062_2064delGCTinsAGC",
"hgvs_p": "p.Ala688Ser",
"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": "S",
"aa_end": null,
"aa_length": 1028,
"aa_ref": "A",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 3087,
"cds_start": 2086,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857225.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.2086_2088delGCTinsAGC",
"hgvs_p": "p.Ala696Ser",
"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": "S",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "A",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5433,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969831.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.2062_2064delGCTinsAGC",
"hgvs_p": "p.Ala688Ser",
"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": "S",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "A",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5415,
"cdna_start": 2156,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969832.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.2053_2055delGCTinsAGC",
"hgvs_p": "p.Ala685Ser",
"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": "S",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5405,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857224.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.2032_2034delGCTinsAGC",
"hgvs_p": "p.Ala678Ser",
"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": "S",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "A",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 2147,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2062,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392233.7",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.2062_2064delGCTinsAGC",
"hgvs_p": "p.Ala688Ser",
"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": "S",
"aa_end": null,
"aa_length": 999,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5372,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 3000,
"cds_start": 1999,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857223.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.1999_2001delGCTinsAGC",
"hgvs_p": "p.Ala667Ser",
"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": "S",
"aa_end": null,
"aa_length": 952,
"aa_ref": "A",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4283,
"cdna_start": 1962,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1858,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969833.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.1858_1860delGCTinsAGC",
"hgvs_p": "p.Ala620Ser",
"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": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "A",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4413,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000447527.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.1192_1194delGCTinsAGC",
"hgvs_p": "p.Ala398Ser",
"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": "S",
"aa_end": null,
"aa_length": 723,
"aa_ref": "A",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4451,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421286.1",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "c.1171_1173delGCTinsAGC",
"hgvs_p": "p.Ala391Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277242.1",
"strand": true,
"transcript": "XM_047421286.1",
"transcript_support_level": null
},
{
"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": 15,
"exon_rank_end": null,
"feature": "ENST00000472488.5",
"gene_hgnc_id": 800,
"gene_symbol": "ATP1A2",
"hgvs_c": "n.2165_2167delGCTinsAGC",
"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": null,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.977,
"pos": 160135242,
"ref": "GCT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_000702.4"
}
]
}