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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: 17-75813811-GC-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75813811&ref=GC&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "UNK",
"hgnc_id": 29369,
"hgvs_c": "c.809_810delGCinsCA",
"hgvs_p": "p.Gly270Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001080419.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "A",
"aa_end": null,
"aa_length": 810,
"aa_ref": "G",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3890,
"cdna_start": 884,
"cds_end": null,
"cds_length": 2433,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001080419.3",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.809_810delGCinsCA",
"hgvs_p": "p.Gly270Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000589666.6",
"protein_coding": true,
"protein_id": "NP_001073888.2",
"strand": true,
"transcript": "NM_001080419.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 810,
"aa_ref": "G",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3890,
"cdna_start": 884,
"cds_end": null,
"cds_length": 2433,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589666.6",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.809_810delGCinsCA",
"hgvs_p": "p.Gly270Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001080419.3",
"protein_coding": true,
"protein_id": "ENSP00000464893.1",
"strand": true,
"transcript": "ENST00000589666.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 849,
"aa_ref": "G",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3956,
"cdna_start": 951,
"cds_end": null,
"cds_length": 2550,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925670.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.926_927delGCinsCA",
"hgvs_p": "p.Gly309Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595729.1",
"strand": true,
"transcript": "ENST00000925670.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 798,
"aa_ref": "G",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 858,
"cds_end": null,
"cds_length": 2397,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925669.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.809_810delGCinsCA",
"hgvs_p": "p.Gly270Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595728.1",
"strand": true,
"transcript": "ENST00000925669.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 797,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 844,
"cds_end": null,
"cds_length": 2394,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925668.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.770_771delGCinsCA",
"hgvs_p": "p.Gly257Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595727.1",
"strand": true,
"transcript": "ENST00000925668.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 797,
"aa_ref": "G",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": 827,
"cds_end": null,
"cds_length": 2394,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925671.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.809_810delGCinsCA",
"hgvs_p": "p.Gly270Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595730.1",
"strand": true,
"transcript": "ENST00000925671.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 839,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8899,
"cdna_start": 5893,
"cds_end": null,
"cds_length": 2520,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025248.2",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.896_897delGCinsCA",
"hgvs_p": "p.Gly299Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880737.1",
"strand": true,
"transcript": "XM_017025248.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 839,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9787,
"cdna_start": 6781,
"cds_end": null,
"cds_length": 2520,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436962.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.896_897delGCinsCA",
"hgvs_p": "p.Gly299Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292918.1",
"strand": true,
"transcript": "XM_047436962.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 827,
"aa_ref": "G",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8744,
"cdna_start": 5774,
"cds_end": null,
"cds_length": 2484,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436963.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.896_897delGCinsCA",
"hgvs_p": "p.Gly299Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292919.1",
"strand": true,
"transcript": "XM_047436963.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 798,
"aa_ref": "G",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3854,
"cdna_start": 884,
"cds_end": null,
"cds_length": 2397,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436964.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.809_810delGCinsCA",
"hgvs_p": "p.Gly270Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292920.1",
"strand": true,
"transcript": "XM_047436964.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 776,
"aa_ref": "G",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4991,
"cdna_start": 1985,
"cds_end": null,
"cds_length": 2331,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025249.2",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.707_708delGCinsCA",
"hgvs_p": "p.Gly236Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880738.1",
"strand": true,
"transcript": "XM_017025249.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 776,
"aa_ref": "G",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6533,
"cdna_start": 3527,
"cds_end": null,
"cds_length": 2331,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436965.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.707_708delGCinsCA",
"hgvs_p": "p.Gly236Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292921.1",
"strand": true,
"transcript": "XM_047436965.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 642,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 407,
"cds_end": null,
"cds_length": 1929,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006722148.3",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.305_306delGCinsCA",
"hgvs_p": "p.Gly102Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722211.1",
"strand": true,
"transcript": "XM_006722148.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 642,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3982,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1929,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525400.2",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.305_306delGCinsCA",
"hgvs_p": "p.Gly102Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523702.1",
"strand": true,
"transcript": "XM_011525400.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 642,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4825,
"cdna_start": 1819,
"cds_end": null,
"cds_length": 1929,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436966.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "c.305_306delGCinsCA",
"hgvs_p": "p.Gly102Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292922.1",
"strand": true,
"transcript": "XM_047436966.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 651,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000586217.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "n.*323_*324delGCinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466054.1",
"strand": true,
"transcript": "ENST00000586217.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 651,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000586217.1",
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"hgvs_c": "n.*323_*324delGCinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466054.1",
"strand": true,
"transcript": "ENST00000586217.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29369,
"gene_symbol": "UNK",
"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": "Benign",
"phylop100way_score": 2.2,
"pos": 75813811,
"ref": "GC",
"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_001080419.3"
}
]
}