← 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: 3-196238823-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=196238823&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 196238823,
"ref": "G",
"alt": "GC",
"effect": "frameshift_variant",
"transcript": "NM_005017.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.968dupG",
"hgvs_p": "p.Ser323fs",
"transcript": "NM_001312673.2",
"protein_id": "NP_001299602.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 367,
"cds_start": 968,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000431016.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001312673.2"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.968dupG",
"hgvs_p": "p.Ser323fs",
"transcript": "ENST00000431016.6",
"protein_id": "ENSP00000394617.1",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 367,
"cds_start": 968,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001312673.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431016.6"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.968dupG",
"hgvs_p": "p.Ser323fs",
"transcript": "ENST00000292823.6",
"protein_id": "ENSP00000292823.2",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 367,
"cds_start": 968,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292823.6"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.968dupG",
"hgvs_p": "p.Ser323fs",
"transcript": "ENST00000419333.5",
"protein_id": "ENSP00000390968.1",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 380,
"cds_start": 968,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419333.5"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.968dupG",
"hgvs_p": "p.Ser323fs",
"transcript": "NM_005017.4",
"protein_id": "NP_005008.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 367,
"cds_start": 968,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005017.4"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.968dupG",
"hgvs_p": "p.Ser323fs",
"transcript": "ENST00000875586.1",
"protein_id": "ENSP00000545645.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 367,
"cds_start": 968,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875586.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.965dupG",
"hgvs_p": "p.Ser322fs",
"transcript": "ENST00000875587.1",
"protein_id": "ENSP00000545646.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 366,
"cds_start": 965,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875587.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.935dupG",
"hgvs_p": "p.Ser312fs",
"transcript": "ENST00000875583.1",
"protein_id": "ENSP00000545642.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 356,
"cds_start": 935,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875583.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.935dupG",
"hgvs_p": "p.Ser312fs",
"transcript": "ENST00000928611.1",
"protein_id": "ENSP00000598670.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 356,
"cds_start": 935,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928611.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.779dupG",
"hgvs_p": "p.Ser260fs",
"transcript": "ENST00000875584.1",
"protein_id": "ENSP00000545643.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 304,
"cds_start": 779,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875584.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.746dupG",
"hgvs_p": "p.Ser249fs",
"transcript": "ENST00000875585.1",
"protein_id": "ENSP00000545644.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 293,
"cds_start": 746,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "c.486+8543dupG",
"hgvs_p": null,
"transcript": "ENST00000441879.5",
"protein_id": "ENSP00000392397.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441879.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC51A",
"gene_hgnc_id": 29955,
"hgvs_c": "c.58-3670dupC",
"hgvs_p": null,
"transcript": "ENST00000415111.1",
"protein_id": "ENSP00000409560.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 23,
"cds_start": null,
"cds_end": null,
"cds_length": 72,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"hgvs_c": "n.529dupG",
"hgvs_p": null,
"transcript": "ENST00000460827.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC51A",
"gene_hgnc_id": 29955,
"hgvs_c": "n.418-1797dupC",
"hgvs_p": null,
"transcript": "ENST00000496737.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496737.1"
}
],
"gene_symbol": "PCYT1A",
"gene_hgnc_id": 8754,
"dbsnp": "rs587777196",
"frequency_reference_population": 0.000008282291,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000049385,
"gnomad_genomes_af": 0.000039427,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.539,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Strong,PP5,BS1_Supporting",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 1,
"pathogenic_score": 5,
"criteria": [
"PVS1_Strong",
"PP5",
"BS1_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005017.4",
"gene_symbol": "PCYT1A",
"hgnc_id": 8754,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.968dupG",
"hgvs_p": "p.Ser323fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000415111.1",
"gene_symbol": "SLC51A",
"hgnc_id": 29955,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.58-3670dupC",
"hgvs_p": null
}
],
"clinvar_disease": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:2",
"phenotype_combined": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}