← 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: 6-107634654-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=107634654&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SOBP",
"hgnc_id": 29256,
"hgvs_c": "c.1810C>A",
"hgvs_p": "p.Gln604Lys",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_018013.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_score": -9,
"allele_count_reference_population": 2155,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1008,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "6",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " and strabismus, anterior maxillary protrusion,Intellectual disability,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.01489722728729248,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 873,
"aa_ref": "Q",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6225,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_018013.4",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1810C>A",
"hgvs_p": "p.Gln604Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317357.10",
"protein_coding": true,
"protein_id": "NP_060483.3",
"strand": true,
"transcript": "NM_018013.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 873,
"aa_ref": "Q",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6225,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000317357.10",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1810C>A",
"hgvs_p": "p.Gln604Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018013.4",
"protein_coding": true,
"protein_id": "ENSP00000318900.5",
"strand": true,
"transcript": "ENST00000317357.10",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 873,
"aa_ref": "Q",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6282,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911406.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1810C>A",
"hgvs_p": "p.Gln604Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581465.1",
"strand": true,
"transcript": "ENST00000911406.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 873,
"aa_ref": "Q",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5524,
"cdna_start": 2311,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911407.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1810C>A",
"hgvs_p": "p.Gln604Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581466.1",
"strand": true,
"transcript": "ENST00000911407.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 841,
"aa_ref": "Q",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": 2258,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911405.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1714C>A",
"hgvs_p": "p.Gln572Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581464.1",
"strand": true,
"transcript": "ENST00000911405.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 841,
"aa_ref": "Q",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5254,
"cdna_start": 2258,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954033.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1714C>A",
"hgvs_p": "p.Gln572Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624092.1",
"strand": true,
"transcript": "ENST00000954033.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 924,
"aa_ref": "Q",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6438,
"cdna_start": 2463,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011535920.3",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1963C>A",
"hgvs_p": "p.Gln655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534222.1",
"strand": true,
"transcript": "XM_011535920.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 892,
"aa_ref": "Q",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6342,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1867,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047418962.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1867C>A",
"hgvs_p": "p.Gln623Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274918.1",
"strand": true,
"transcript": "XM_047418962.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 873,
"aa_ref": "Q",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6285,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047418963.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1810C>A",
"hgvs_p": "p.Gln604Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274919.1",
"strand": true,
"transcript": "XM_047418963.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 841,
"aa_ref": "Q",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6189,
"cdna_start": 2214,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418964.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1714C>A",
"hgvs_p": "p.Gln572Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274920.1",
"strand": true,
"transcript": "XM_047418964.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 724,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6812,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418965.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1363C>A",
"hgvs_p": "p.Gln455Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274921.1",
"strand": true,
"transcript": "XM_047418965.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 724,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5581,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418966.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1363C>A",
"hgvs_p": "p.Gln455Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274922.1",
"strand": true,
"transcript": "XM_047418966.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 724,
"aa_ref": "Q",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5611,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418967.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1363C>A",
"hgvs_p": "p.Gln455Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274923.1",
"strand": true,
"transcript": "XM_047418967.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 614,
"aa_ref": "Q",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5188,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047418968.1",
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"hgvs_c": "c.1033C>A",
"hgvs_p": "p.Gln345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274924.1",
"strand": true,
"transcript": "XM_047418968.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs368271940",
"effect": "missense_variant",
"frequency_reference_population": 0.0013787517,
"gene_hgnc_id": 29256,
"gene_symbol": "SOBP",
"gnomad_exomes_ac": 2025,
"gnomad_exomes_af": 0.00143491,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_ac": 130,
"gnomad_genomes_af": 0.000856582,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 3,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Intellectual disability, anterior maxillary protrusion, and strabismus",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.56,
"pos": 107634654,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.087,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018013.4"
}
]
}