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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: 6-56501016-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=56501016&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 56501016,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000680361.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": 80,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.19896+64T>C",
"hgvs_p": null,
"transcript": "NM_001374736.1",
"protein_id": "NP_001361665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7818,
"cds_start": -4,
"cds_end": null,
"cds_length": 23457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24709,
"mane_select": "ENST00000680361.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 104,
"intron_rank": 80,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.19896+64T>C",
"hgvs_p": null,
"transcript": "ENST00000680361.1",
"protein_id": "ENSP00000505098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7818,
"cds_start": -4,
"cds_end": null,
"cds_length": 23457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24709,
"mane_select": "NM_001374736.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.12027+64T>C",
"hgvs_p": null,
"transcript": "ENST00000244364.10",
"protein_id": "ENSP00000244364.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 5171,
"cds_start": -4,
"cds_end": null,
"cds_length": 15516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": 80,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.19923+64T>C",
"hgvs_p": null,
"transcript": "NM_001374734.1",
"protein_id": "NP_001361663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7803,
"cds_start": -4,
"cds_end": null,
"cds_length": 23412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 103,
"intron_rank": 80,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.19896+64T>C",
"hgvs_p": null,
"transcript": "NM_001374722.1",
"protein_id": "NP_001361651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7794,
"cds_start": -4,
"cds_end": null,
"cds_length": 23385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": 75,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.18936+64T>C",
"hgvs_p": null,
"transcript": "NM_001374729.1",
"protein_id": "NP_001361658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7461,
"cds_start": -4,
"cds_end": null,
"cds_length": 22386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 23897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 98,
"intron_rank": 75,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.18936+64T>C",
"hgvs_p": null,
"transcript": "ENST00000361203.7",
"protein_id": "ENSP00000354508.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 7461,
"cds_start": -4,
"cds_end": null,
"cds_length": 22386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 97,
"intron_rank": 74,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.13539+64T>C",
"hgvs_p": null,
"transcript": "NM_001144769.5",
"protein_id": "NP_001138241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5675,
"cds_start": -4,
"cds_end": null,
"cds_length": 17028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": 73,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.13212+64T>C",
"hgvs_p": null,
"transcript": "ENST00000449297.7",
"protein_id": "ENSP00000393082.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 5560,
"cds_start": -4,
"cds_end": null,
"cds_length": 16683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": 72,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.13125+64T>C",
"hgvs_p": null,
"transcript": "NM_001144770.2",
"protein_id": "NP_001138242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5537,
"cds_start": -4,
"cds_end": null,
"cds_length": 16614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 95,
"intron_rank": 72,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.13125+64T>C",
"hgvs_p": null,
"transcript": "ENST00000312431.10",
"protein_id": "ENSP00000307959.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 5537,
"cds_start": -4,
"cds_end": null,
"cds_length": 16614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": 71,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.13005+64T>C",
"hgvs_p": null,
"transcript": "NM_183380.4",
"protein_id": "NP_899236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5497,
"cds_start": -4,
"cds_end": null,
"cds_length": 16494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": 71,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.13005+64T>C",
"hgvs_p": null,
"transcript": "ENST00000421834.7",
"protein_id": "ENSP00000400883.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 5497,
"cds_start": -4,
"cds_end": null,
"cds_length": 16494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": 71,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.13005+64T>C",
"hgvs_p": null,
"transcript": "NM_001386100.1",
"protein_id": "NP_001373029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5491,
"cds_start": -4,
"cds_end": null,
"cds_length": 16476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": 71,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.12798+64T>C",
"hgvs_p": null,
"transcript": "ENST00000520645.6",
"protein_id": "ENSP00000431030.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 5422,
"cds_start": -4,
"cds_end": null,
"cds_length": 16269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": 70,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.12678+64T>C",
"hgvs_p": null,
"transcript": "NM_001374730.1",
"protein_id": "NP_001361659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5375,
"cds_start": -4,
"cds_end": null,
"cds_length": 16128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": 70,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.12678+64T>C",
"hgvs_p": null,
"transcript": "ENST00000370788.6",
"protein_id": "ENSP00000359824.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 5375,
"cds_start": -4,
"cds_end": null,
"cds_length": 16128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.12027+64T>C",
"hgvs_p": null,
"transcript": "NM_015548.5",
"protein_id": "NP_056363.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5171,
"cds_start": -4,
"cds_end": null,
"cds_length": 15516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.4581+64T>C",
"hgvs_p": null,
"transcript": "ENST00000340834.10",
"protein_id": "ENSP00000489032.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 2676,
"cds_start": -4,
"cds_end": null,
"cds_length": 8031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"hgvs_c": "c.609+64T>C",
"hgvs_p": null,
"transcript": "ENST00000651790.1",
"protein_id": "ENSP00000498389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1346,
"cds_start": -4,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DST",
"gene_hgnc_id": 1090,
"dbsnp": "rs4283892",
"frequency_reference_population": 0.73598737,
"hom_count_reference_population": 406943,
"allele_count_reference_population": 1100544,
"gnomad_exomes_af": 0.733983,
"gnomad_genomes_af": 0.753685,
"gnomad_exomes_ac": 985892,
"gnomad_genomes_ac": 114652,
"gnomad_exomes_homalt": 363384,
"gnomad_genomes_homalt": 43559,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.676,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000680361.1",
"gene_symbol": "DST",
"hgnc_id": 1090,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.19896+64T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}