← Back to variant description
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: 6-115944330-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=115944330&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 115944330,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002031.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.His352Asn",
"transcript": "NM_002031.3",
"protein_id": "NP_002022.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 13363,
"mane_select": "ENST00000606080.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.His352Asn",
"transcript": "ENST00000606080.2",
"protein_id": "ENSP00000476145.1",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 13363,
"mane_select": "NM_002031.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.His352Asn",
"transcript": "XM_005266880.5",
"protein_id": "XP_005266937.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 13234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.His352Asn",
"transcript": "XM_005266881.3",
"protein_id": "XP_005266938.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 13237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.His352Asn",
"transcript": "XM_011535654.3",
"protein_id": "XP_011533956.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 13303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.His352Asn",
"transcript": "XM_011535655.3",
"protein_id": "XP_011533957.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 13300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.His352Asn",
"transcript": "XM_017010645.2",
"protein_id": "XP_016866134.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1680,
"cdna_end": null,
"cdna_length": 13409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.His352Asn",
"transcript": "XM_047418554.1",
"protein_id": "XP_047274510.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 13284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.His352Asn",
"transcript": "XM_047418555.1",
"protein_id": "XP_047274511.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 505,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 13287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.His239Asn",
"transcript": "XM_011535656.3",
"protein_id": "XP_011533958.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 392,
"cds_start": 715,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 12673,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289376",
"gene_hgnc_id": null,
"hgvs_c": "n.269-42152C>A",
"hgvs_p": null,
"transcript": "ENST00000692859.3",
"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": 657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FRK",
"gene_hgnc_id": 3955,
"dbsnp": "rs201586564",
"frequency_reference_population": 0.0002802218,
"hom_count_reference_population": 1,
"allele_count_reference_population": 452,
"gnomad_exomes_af": 0.000291605,
"gnomad_genomes_af": 0.000170911,
"gnomad_exomes_ac": 426,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9547374248504639,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.769,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9964,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.998,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002031.3",
"gene_symbol": "FRK",
"hgnc_id": 3955,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.His352Asn"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000692859.3",
"gene_symbol": "ENSG00000289376",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.269-42152C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}