← 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: 6-107634891-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=107634891&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 107634891,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000317357.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.2047A>G",
"hgvs_p": "p.Ser683Gly",
"transcript": "NM_018013.4",
"protein_id": "NP_060483.3",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 873,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 6225,
"mane_select": "ENST00000317357.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.2047A>G",
"hgvs_p": "p.Ser683Gly",
"transcript": "ENST00000317357.10",
"protein_id": "ENSP00000318900.5",
"transcript_support_level": 5,
"aa_start": 683,
"aa_end": null,
"aa_length": 873,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 6225,
"mane_select": "NM_018013.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.2200A>G",
"hgvs_p": "p.Ser734Gly",
"transcript": "XM_011535920.3",
"protein_id": "XP_011534222.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 924,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2700,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.2104A>G",
"hgvs_p": "p.Ser702Gly",
"transcript": "XM_047418962.1",
"protein_id": "XP_047274918.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 892,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.2047A>G",
"hgvs_p": "p.Ser683Gly",
"transcript": "XM_047418963.1",
"protein_id": "XP_047274919.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 873,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 6285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.1951A>G",
"hgvs_p": "p.Ser651Gly",
"transcript": "XM_047418964.1",
"protein_id": "XP_047274920.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 841,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2451,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.1600A>G",
"hgvs_p": "p.Ser534Gly",
"transcript": "XM_047418965.1",
"protein_id": "XP_047274921.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 724,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.1600A>G",
"hgvs_p": "p.Ser534Gly",
"transcript": "XM_047418966.1",
"protein_id": "XP_047274922.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 724,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 5581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.1600A>G",
"hgvs_p": "p.Ser534Gly",
"transcript": "XM_047418967.1",
"protein_id": "XP_047274923.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 724,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 5611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "c.1270A>G",
"hgvs_p": "p.Ser424Gly",
"transcript": "XM_047418968.1",
"protein_id": "XP_047274924.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 614,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"hgvs_c": "n.-99A>G",
"hgvs_p": null,
"transcript": "ENST00000494935.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SOBP",
"gene_hgnc_id": 29256,
"dbsnp": "rs9486659",
"frequency_reference_population": 0.98776984,
"hom_count_reference_population": 640415,
"allele_count_reference_population": 1296525,
"gnomad_exomes_af": 0.988917,
"gnomad_genomes_af": 0.978768,
"gnomad_exomes_ac": 1151270,
"gnomad_genomes_ac": 145255,
"gnomad_exomes_homalt": 569301,
"gnomad_genomes_homalt": 71114,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 5.8501780131337e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.0431,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.032,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000317357.10",
"gene_symbol": "SOBP",
"hgnc_id": 29256,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.2047A>G",
"hgvs_p": "p.Ser683Gly"
}
],
"clinvar_disease": " and strabismus, anterior maxillary protrusion,Intellectual disability,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|Intellectual disability, anterior maxillary protrusion, and strabismus",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}