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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: 6-107533563-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=107533563&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 107533563,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018013.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Glu176Lys",
"transcript": "NM_018013.4",
"protein_id": "NP_060483.3",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 873,
"cds_start": 526,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 6225,
"mane_select": "ENST00000317357.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Glu176Lys",
"transcript": "ENST00000317357.10",
"protein_id": "ENSP00000318900.5",
"transcript_support_level": 5,
"aa_start": 176,
"aa_end": null,
"aa_length": 873,
"cds_start": 526,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 6225,
"mane_select": "NM_018013.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Glu227Lys",
"transcript": "XM_011535920.3",
"protein_id": "XP_011534222.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 924,
"cds_start": 679,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Glu227Lys",
"transcript": "XM_047418962.1",
"protein_id": "XP_047274918.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 892,
"cds_start": 679,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Glu176Lys",
"transcript": "XM_047418963.1",
"protein_id": "XP_047274919.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 873,
"cds_start": 526,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 6285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Glu176Lys",
"transcript": "XM_047418964.1",
"protein_id": "XP_047274920.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 841,
"cds_start": 526,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Glu27Lys",
"transcript": "XM_047418965.1",
"protein_id": "XP_047274921.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 724,
"cds_start": 79,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Glu27Lys",
"transcript": "XM_047418966.1",
"protein_id": "XP_047274922.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 724,
"cds_start": 79,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 5581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Glu27Lys",
"transcript": "XM_047418967.1",
"protein_id": "XP_047274923.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 724,
"cds_start": 79,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 5611,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "n.1037G>A",
"hgvs_p": null,
"transcript": "ENST00000477448.1",
"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": 1535,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.-109+27136G>A",
"hgvs_p": null,
"transcript": "XM_047418968.1",
"protein_id": "XP_047274924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"dbsnp": null,
"frequency_reference_population": 6.840535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.82115638256073,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.566,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9995,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.597,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018013.4",
"gene_symbol": "SOBP",
"hgnc_id": 29256,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Glu176Lys"
}
],
"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
}