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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: 1-2028259-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2028259&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2028259,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000378585.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Cys",
"transcript": "NM_000815.5",
"protein_id": "NP_000806.2",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 452,
"cds_start": 658,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": "ENST00000378585.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Cys",
"transcript": "ENST00000378585.7",
"protein_id": "ENSP00000367848.4",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 452,
"cds_start": 658,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": "NM_000815.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Cys",
"transcript": "ENST00000638771.1",
"protein_id": "ENSP00000492435.1",
"transcript_support_level": 3,
"aa_start": 220,
"aa_end": null,
"aa_length": 500,
"cds_start": 658,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.742C>T",
"hgvs_p": "p.Arg248Cys",
"transcript": "ENST00000640067.1",
"protein_id": "ENSP00000491844.1",
"transcript_support_level": 5,
"aa_start": 248,
"aa_end": null,
"aa_length": 480,
"cds_start": 742,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Cys",
"transcript": "ENST00000640949.1",
"protein_id": "ENSP00000492500.1",
"transcript_support_level": 5,
"aa_start": 220,
"aa_end": null,
"aa_length": 429,
"cds_start": 658,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"transcript": "ENST00000638411.1",
"protein_id": "ENSP00000491632.1",
"transcript_support_level": 5,
"aa_start": 230,
"aa_end": null,
"aa_length": 394,
"cds_start": 689,
"cds_end": null,
"cds_length": 1187,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.598C>T",
"hgvs_p": "p.Arg200Cys",
"transcript": "ENST00000640030.1",
"protein_id": "ENSP00000491411.1",
"transcript_support_level": 5,
"aa_start": 200,
"aa_end": null,
"aa_length": 380,
"cds_start": 598,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Arg155Cys",
"transcript": "ENST00000640981.1",
"protein_id": "ENSP00000491287.1",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 318,
"cds_start": 463,
"cds_end": null,
"cds_length": 958,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Arg46Cys",
"transcript": "ENST00000638804.1",
"protein_id": "ENSP00000491871.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 168,
"cds_start": 136,
"cds_end": null,
"cds_length": 507,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134Cys",
"transcript": "ENST00000638763.1",
"protein_id": "ENSP00000492352.1",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 166,
"cds_start": 400,
"cds_end": null,
"cds_length": 503,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Arg455Cys",
"transcript": "XM_017000936.2",
"protein_id": "XP_016856425.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 687,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 5672,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233Cys",
"transcript": "XM_011541194.4",
"protein_id": "XP_011539496.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 465,
"cds_start": 697,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 4536,
"cdna_end": null,
"cdna_length": 5713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.1217C>T",
"hgvs_p": null,
"transcript": "ENST00000638604.1",
"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,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.*644C>T",
"hgvs_p": null,
"transcript": "ENST00000639045.1",
"protein_id": "ENSP00000491997.1",
"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,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.1237C>T",
"hgvs_p": null,
"transcript": "ENST00000639070.1",
"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,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.1262C>T",
"hgvs_p": null,
"transcript": "ENST00000639777.1",
"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,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.1007C>T",
"hgvs_p": null,
"transcript": "ENST00000640317.1",
"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,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.667C>T",
"hgvs_p": null,
"transcript": "ENST00000640423.1",
"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,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.1365C>T",
"hgvs_p": null,
"transcript": "ENST00000640892.1",
"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,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.*644C>T",
"hgvs_p": null,
"transcript": "ENST00000639045.1",
"protein_id": "ENSP00000491997.1",
"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,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"dbsnp": "rs139300921",
"frequency_reference_population": 0.0013522852,
"hom_count_reference_population": 4,
"allele_count_reference_population": 2180,
"gnomad_exomes_af": 0.00140905,
"gnomad_genomes_af": 0.000807956,
"gnomad_exomes_ac": 2057,
"gnomad_genomes_ac": 123,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.044653236865997314,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.44,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1423,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.08,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000378585.7",
"gene_symbol": "GABRD",
"hgnc_id": 4084,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Cys"
}
],
"clinvar_disease": "GABRD-related disorder,Idiopathic generalized epilepsy,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided|Idiopathic generalized epilepsy|GABRD-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}