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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: 14-77931105-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77931105&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77931105,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000238561.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.1207-413A>T",
"hgvs_p": null,
"transcript": "NM_020421.4",
"protein_id": "NP_065154.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": -4,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": "ENST00000238561.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.1207-413A>T",
"hgvs_p": null,
"transcript": "ENST00000238561.10",
"protein_id": "ENSP00000238561.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": -4,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": "NM_020421.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.1378-413A>T",
"hgvs_p": null,
"transcript": "NM_001366487.2",
"protein_id": "NP_001353416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.1090-413A>T",
"hgvs_p": null,
"transcript": "NM_001366485.2",
"protein_id": "NP_001353414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": -4,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.1048-413A>T",
"hgvs_p": null,
"transcript": "NM_001366489.2",
"protein_id": "NP_001353418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.1009-413A>T",
"hgvs_p": null,
"transcript": "NM_001366486.2",
"protein_id": "NP_001353415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": -4,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.1003-413A>T",
"hgvs_p": null,
"transcript": "NM_001142545.2",
"protein_id": "NP_001136017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.1003-413A>T",
"hgvs_p": null,
"transcript": "ENST00000341211.5",
"protein_id": "ENSP00000339663.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.892-413A>T",
"hgvs_p": null,
"transcript": "NM_001366488.2",
"protein_id": "NP_001353417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.829-413A>T",
"hgvs_p": null,
"transcript": "NM_001366490.2",
"protein_id": "NP_001353419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "n.1574-413A>T",
"hgvs_p": null,
"transcript": "ENST00000555217.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "n.551-413A>T",
"hgvs_p": null,
"transcript": "ENST00000556560.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "n.1541-413A>T",
"hgvs_p": null,
"transcript": "NR_158987.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "n.1360-413A>T",
"hgvs_p": null,
"transcript": "NR_158988.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "n.1739-413A>T",
"hgvs_p": null,
"transcript": "NR_158989.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.1030-413A>T",
"hgvs_p": null,
"transcript": "XM_047431610.1",
"protein_id": "XP_047287566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.829-413A>T",
"hgvs_p": null,
"transcript": "XM_017021477.2",
"protein_id": "XP_016876966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
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"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.829-413A>T",
"hgvs_p": null,
"transcript": "XM_047431611.1",
"protein_id": "XP_047287567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"hgvs_c": "c.526-413A>T",
"hgvs_p": null,
"transcript": "XM_011536985.2",
"protein_id": "XP_011535287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADCK1",
"gene_hgnc_id": 19038,
"dbsnp": "rs2287652",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.282,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000238561.10",
"gene_symbol": "ADCK1",
"hgnc_id": 19038,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1207-413A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}