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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: 3-46459794-C-CCTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=46459794&ref=C&alt=CCTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4_Supporting"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "LTF",
"hgnc_id": 6720,
"hgvs_c": "c.68_69insTAG",
"hgvs_p": "p.Arg22_Arg23insSer",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_002343.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_score": 3,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": "SR",
"aa_end": null,
"aa_length": 710,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 106,
"cds_end": null,
"cds_length": 2133,
"cds_start": 68,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_002343.6",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.68_69insTAG",
"hgvs_p": "p.Arg22_Arg23insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000231751.9",
"protein_coding": true,
"protein_id": "NP_002334.2",
"strand": false,
"transcript": "NM_002343.6",
"transcript_support_level": null
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 710,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 106,
"cds_end": null,
"cds_length": 2133,
"cds_start": 68,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000231751.9",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.68_69insTAG",
"hgvs_p": "p.Arg22_Arg23insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002343.6",
"protein_coding": true,
"protein_id": "ENSP00000231751.4",
"strand": false,
"transcript": "ENST00000231751.9",
"transcript_support_level": 1
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 708,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 69,
"cds_end": null,
"cds_length": 2127,
"cds_start": 68,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000417439.5",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.68_69insTAG",
"hgvs_p": "p.Arg22_Arg23insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405546.1",
"strand": false,
"transcript": "ENST00000417439.5",
"transcript_support_level": 1
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 104,
"cds_end": null,
"cds_length": 2166,
"cds_start": 68,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000947212.1",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.68_69insTAG",
"hgvs_p": "p.Arg22_Arg23insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617271.1",
"strand": false,
"transcript": "ENST00000947212.1",
"transcript_support_level": null
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 708,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 106,
"cds_end": null,
"cds_length": 2127,
"cds_start": 68,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001321121.2",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.68_69insTAG",
"hgvs_p": "p.Arg22_Arg23insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308050.1",
"strand": false,
"transcript": "NM_001321121.2",
"transcript_support_level": null
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 706,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 106,
"cds_end": null,
"cds_length": 2121,
"cds_start": 68,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000947211.1",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.68_69insTAG",
"hgvs_p": "p.Arg22_Arg23insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617270.1",
"strand": false,
"transcript": "ENST00000947211.1",
"transcript_support_level": null
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 697,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 597,
"cds_end": null,
"cds_length": 2094,
"cds_start": 29,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001321122.2",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.29_30insTAG",
"hgvs_p": "p.Arg9_Arg10insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308051.1",
"strand": false,
"transcript": "NM_001321122.2",
"transcript_support_level": null
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 695,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 597,
"cds_end": null,
"cds_length": 2088,
"cds_start": 29,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000443496.5",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.29_30insTAG",
"hgvs_p": "p.Arg9_Arg10insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397427.1",
"strand": false,
"transcript": "ENST00000443496.5",
"transcript_support_level": 2
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 654,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 108,
"cds_end": null,
"cds_length": 1965,
"cds_start": 68,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000947210.1",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.68_69insTAG",
"hgvs_p": "p.Arg22_Arg23insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617269.1",
"strand": false,
"transcript": "ENST00000947210.1",
"transcript_support_level": null
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 585,
"aa_ref": "R",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": 88,
"cds_end": null,
"cds_length": 1758,
"cds_start": 68,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000947213.1",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.68_69insTAG",
"hgvs_p": "p.Arg22_Arg23insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617272.1",
"strand": false,
"transcript": "ENST00000947213.1",
"transcript_support_level": null
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 181,
"aa_ref": "R",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": 139,
"cds_end": null,
"cds_length": 546,
"cds_start": 101,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000431944.1",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.101_102insTAG",
"hgvs_p": "p.Arg33_Arg34insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395234.1",
"strand": false,
"transcript": "ENST00000431944.1",
"transcript_support_level": 4
},
{
"aa_alt": "SR",
"aa_end": null,
"aa_length": 54,
"aa_ref": "R",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 469,
"cdna_start": 331,
"cds_end": null,
"cds_length": 167,
"cds_start": 29,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000498301.1",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.29_30insTAG",
"hgvs_p": "p.Arg9_Arg10insSer",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508000.1",
"strand": false,
"transcript": "ENST00000498301.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 666,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": null,
"cds_end": null,
"cds_length": 2001,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001199149.2",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.-65_-64insTAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186078.1",
"strand": false,
"transcript": "NM_001199149.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 666,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": null,
"cds_end": null,
"cds_length": 2001,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000426532.6",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "c.-65_-64insTAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405719.2",
"strand": false,
"transcript": "ENST00000426532.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 466,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000478874.2",
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"hgvs_c": "n.178+3672_178+3673insTAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000478874.2",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs10662431",
"effect": "disruptive_inframe_insertion",
"frequency_reference_population": 0.000011328332,
"gene_hgnc_id": 6720,
"gene_symbol": "LTF",
"gnomad_exomes_ac": 16,
"gnomad_exomes_af": 0.0000113283,
"gnomad_exomes_homalt": 0,
"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": -1.266,
"pos": 46459794,
"ref": "C",
"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_002343.6"
}
]
}