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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: 19-35033558-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35033558&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35033558,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000262631.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Arg89Arg",
"transcript": "NM_001037.5",
"protein_id": "NP_001028.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 218,
"cds_start": 267,
"cds_end": null,
"cds_length": 657,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": "ENST00000262631.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Arg89Arg",
"transcript": "ENST00000262631.11",
"protein_id": "ENSP00000262631.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 218,
"cds_start": 267,
"cds_end": null,
"cds_length": 657,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": "NM_001037.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Arg89Arg",
"transcript": "ENST00000415950.5",
"protein_id": "ENSP00000396915.2",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 268,
"cds_start": 267,
"cds_end": null,
"cds_length": 807,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Arg89Arg",
"transcript": "ENST00000638536.1",
"protein_id": "ENSP00000492022.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 218,
"cds_start": 267,
"cds_end": null,
"cds_length": 657,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Arg89Arg",
"transcript": "NM_199037.5",
"protein_id": "NP_950238.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 268,
"cds_start": 267,
"cds_end": null,
"cds_length": 807,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Arg56Arg",
"transcript": "ENST00000640135.1",
"protein_id": "ENSP00000492655.1",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 235,
"cds_start": 168,
"cds_end": null,
"cds_length": 708,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Arg56Arg",
"transcript": "ENST00000675741.1",
"protein_id": "ENSP00000502395.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 227,
"cds_start": 168,
"cds_end": null,
"cds_length": 684,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Arg56Arg",
"transcript": "NM_001321605.2",
"protein_id": "NP_001308534.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 185,
"cds_start": 168,
"cds_end": null,
"cds_length": 558,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Arg56Arg",
"transcript": "ENST00000596348.2",
"protein_id": "ENSP00000492247.1",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 185,
"cds_start": 168,
"cds_end": null,
"cds_length": 558,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 1176,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "n.168C>T",
"hgvs_p": null,
"transcript": "ENST00000676410.1",
"protein_id": "ENSP00000502717.1",
"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": 1804,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"hgvs_c": "c.208-154C>T",
"hgvs_p": null,
"transcript": "ENST00000595652.5",
"protein_id": "ENSP00000468848.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HPN-AS1",
"gene_hgnc_id": 47041,
"hgvs_c": "n.413-5000G>A",
"hgvs_p": null,
"transcript": "ENST00000796454.1",
"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": 1017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HPN-AS1",
"gene_hgnc_id": 47041,
"hgvs_c": "n.329-5000G>A",
"hgvs_p": null,
"transcript": "ENST00000796455.1",
"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": 935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HPN-AS1",
"gene_hgnc_id": 47041,
"hgvs_c": "n.236-5000G>A",
"hgvs_p": null,
"transcript": "ENST00000796456.1",
"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": 842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HPN-AS1",
"gene_hgnc_id": 47041,
"hgvs_c": "n.306-5000G>A",
"hgvs_p": null,
"transcript": "ENST00000796457.1",
"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": 912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HPN-AS1",
"gene_hgnc_id": 47041,
"hgvs_c": "n.379-5000G>A",
"hgvs_p": null,
"transcript": "ENST00000796458.1",
"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": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCN1B",
"gene_hgnc_id": 10586,
"dbsnp": "rs140949982",
"frequency_reference_population": 0.00042006237,
"hom_count_reference_population": 2,
"allele_count_reference_population": 678,
"gnomad_exomes_af": 0.000246951,
"gnomad_genomes_af": 0.00208254,
"gnomad_exomes_ac": 361,
"gnomad_genomes_ac": 317,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.686,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000262631.11",
"gene_symbol": "SCN1B",
"hgnc_id": 10586,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Arg89Arg"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000796454.1",
"gene_symbol": "HPN-AS1",
"hgnc_id": 47041,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.413-5000G>A",
"hgvs_p": null
}
],
"clinvar_disease": " 13, 52, familial, type 1,Atrial fibrillation,Brugada syndrome 5,Cardiovascular phenotype,Developmental and epileptic encephalopathy,Generalized epilepsy with febrile seizures plus,SCN1B-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:5",
"phenotype_combined": "not specified|not provided|Brugada syndrome 5|Cardiovascular phenotype|SCN1B-related disorder|Brugada syndrome 5;Atrial fibrillation, familial, 13;Developmental and epileptic encephalopathy, 52;Generalized epilepsy with febrile seizures plus, type 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}