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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: 8-133012032-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=133012032&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "TG",
"hgnc_id": 11764,
"hgvs_c": "c.6394_6395delTCinsCT",
"hgvs_p": "p.Ser2132Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003235.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"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": "L",
"aa_end": null,
"aa_length": 2768,
"aa_ref": "S",
"aa_start": 2132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8455,
"cdna_start": 6437,
"cds_end": null,
"cds_length": 8307,
"cds_start": 6394,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003235.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.6394_6395delTCinsCT",
"hgvs_p": "p.Ser2132Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000220616.9",
"protein_coding": true,
"protein_id": "NP_003226.4",
"strand": true,
"transcript": "NM_003235.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2768,
"aa_ref": "S",
"aa_start": 2132,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8455,
"cdna_start": 6437,
"cds_end": null,
"cds_length": 8307,
"cds_start": 6394,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000220616.9",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.6394_6395delTCinsCT",
"hgvs_p": "p.Ser2132Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003235.5",
"protein_coding": true,
"protein_id": "ENSP00000220616.4",
"strand": true,
"transcript": "ENST00000220616.9",
"transcript_support_level": 1
},
{
"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": 5065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000523756.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.*2607_*2608delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428628.1",
"strand": true,
"transcript": "ENST00000523756.5",
"transcript_support_level": 1
},
{
"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": 5065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 35,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000523756.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.*2607_*2608delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428628.1",
"strand": true,
"transcript": "ENST00000523756.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "S",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3706,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 3672,
"cds_start": 1759,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519178.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.1759_1760delTCinsCT",
"hgvs_p": "p.Ser587Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430523.1",
"strand": true,
"transcript": "ENST00000519178.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 901,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 2706,
"cds_start": 793,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519543.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.793_794delTCinsCT",
"hgvs_p": "p.Ser265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430430.1",
"strand": true,
"transcript": "ENST00000519543.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2747,
"aa_ref": "S",
"aa_start": 2111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8392,
"cdna_start": 6374,
"cds_end": null,
"cds_length": 8244,
"cds_start": 6331,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716622.4",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.6331_6332delTCinsCT",
"hgvs_p": "p.Ser2111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716685.1",
"strand": true,
"transcript": "XM_006716622.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2746,
"aa_ref": "S",
"aa_start": 2110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8389,
"cdna_start": 6371,
"cds_end": null,
"cds_length": 8241,
"cds_start": 6328,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013793.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.6328_6329delTCinsCT",
"hgvs_p": "p.Ser2110Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869282.1",
"strand": true,
"transcript": "XM_017013793.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2723,
"aa_ref": "S",
"aa_start": 2132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8320,
"cdna_start": 6437,
"cds_end": null,
"cds_length": 8172,
"cds_start": 6394,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013794.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.6394_6395delTCinsCT",
"hgvs_p": "p.Ser2132Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869283.1",
"strand": true,
"transcript": "XM_017013794.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2711,
"aa_ref": "S",
"aa_start": 2075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8284,
"cdna_start": 6266,
"cds_end": null,
"cds_length": 8136,
"cds_start": 6223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013795.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.6223_6224delTCinsCT",
"hgvs_p": "p.Ser2075Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869284.1",
"strand": true,
"transcript": "XM_017013795.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2704,
"aa_ref": "S",
"aa_start": 2068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8263,
"cdna_start": 6245,
"cds_end": null,
"cds_length": 8115,
"cds_start": 6202,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005251038.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.6202_6203delTCinsCT",
"hgvs_p": "p.Ser2068Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251095.1",
"strand": true,
"transcript": "XM_005251038.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2695,
"aa_ref": "S",
"aa_start": 2059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8236,
"cdna_start": 6218,
"cds_end": null,
"cds_length": 8088,
"cds_start": 6175,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013796.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.6175_6176delTCinsCT",
"hgvs_p": "p.Ser2059Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869285.1",
"strand": true,
"transcript": "XM_017013796.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2681,
"aa_ref": "S",
"aa_start": 2045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8199,
"cdna_start": 6181,
"cds_end": null,
"cds_length": 8046,
"cds_start": 6133,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047422166.1",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.6133_6134delTCinsCT",
"hgvs_p": "p.Ser2045Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278122.1",
"strand": true,
"transcript": "XM_047422166.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2445,
"aa_ref": "S",
"aa_start": 2132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7396,
"cdna_start": 6437,
"cds_end": null,
"cds_length": 7338,
"cds_start": 6394,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013798.2",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "c.6394_6395delTCinsCT",
"hgvs_p": "p.Ser2132Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869287.1",
"strand": true,
"transcript": "XM_017013798.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 813,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000522523.5",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.455_456delTCinsCT",
"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": "ENST00000522523.5",
"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": 481,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000522797.1",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.*171_*172delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430087.1",
"strand": true,
"transcript": "ENST00000522797.1",
"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": 481,
"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": "ENST00000522797.1",
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"hgvs_c": "n.*171_*172delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430087.1",
"strand": true,
"transcript": "ENST00000522797.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 11764,
"gene_symbol": "TG",
"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": 0.291,
"pos": 133012032,
"ref": "TC",
"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_003235.5"
}
]
}