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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: 21-21291566-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=21291566&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 21291566,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000400546.6",
"consequences": [
{
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.482-538C>T",
"hgvs_p": null,
"transcript": "NM_004540.5",
"protein_id": "NP_004531.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": "ENST00000400546.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.482-538C>T",
"hgvs_p": null,
"transcript": "ENST00000400546.6",
"protein_id": "ENSP00000383392.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": "NM_004540.5",
"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": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.557-538C>T",
"hgvs_p": null,
"transcript": "NM_001352592.2",
"protein_id": "NP_001339521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8192,
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.482-538C>T",
"hgvs_p": null,
"transcript": "NM_001352591.2",
"protein_id": "NP_001339520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 849,
"cds_start": -4,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8077,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.428-538C>T",
"hgvs_p": null,
"transcript": "ENST00000284894.8",
"protein_id": "ENSP00000284894.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 819,
"cds_start": -4,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4699,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.482-538C>T",
"hgvs_p": null,
"transcript": "NM_001352593.2",
"protein_id": "NP_001339522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": -4,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4063,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.482-538C>T",
"hgvs_p": null,
"transcript": "NM_001352594.2",
"protein_id": "NP_001339523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": -4,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3888,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.56-538C>T",
"hgvs_p": null,
"transcript": "NM_001352595.2",
"protein_id": "NP_001339524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7615,
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.482-538C>T",
"hgvs_p": null,
"transcript": "NM_001352596.2",
"protein_id": "NP_001339525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1933,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.557-538C>T",
"hgvs_p": null,
"transcript": "NM_001352597.2",
"protein_id": "NP_001339526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "n.76-538C>T",
"hgvs_p": null,
"transcript": "ENST00000461281.1",
"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,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "n.497-538C>T",
"hgvs_p": null,
"transcript": "ENST00000486367.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.557-538C>T",
"hgvs_p": null,
"transcript": "XM_011529575.4",
"protein_id": "XP_011527877.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 5,
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"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.557-538C>T",
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"transcript": "XM_047440784.1",
"protein_id": "XP_047296740.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "NCAM2",
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"hgvs_c": "c.557-538C>T",
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"transcript": "XM_011529580.4",
"protein_id": "XP_011527882.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "NCAM2",
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"hgvs_c": "c.557-538C>T",
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"transcript": "XM_011529581.4",
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},
{
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],
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"gene_symbol": "NCAM2",
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"hgvs_c": "c.557-538C>T",
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"transcript": "XM_011529582.4",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 4,
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"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.482-538C>T",
"hgvs_p": null,
"transcript": "XM_047440785.1",
"protein_id": "XP_047296741.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 4,
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"gene_symbol": "NCAM2",
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"hgvs_c": "c.482-538C>T",
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"transcript": "XM_024452081.2",
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},
{
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],
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"gene_symbol": "NCAM2",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"hgvs_c": "c.-11-538C>T",
"hgvs_p": null,
"transcript": "XM_017028356.3",
"protein_id": "XP_016883845.1",
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"feature": null
}
],
"gene_symbol": "NCAM2",
"gene_hgnc_id": 7657,
"dbsnp": "rs2826771",
"frequency_reference_population": 0.16906746,
"hom_count_reference_population": 2261,
"allele_count_reference_population": 25610,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.169067,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 25610,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2261,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.059,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000400546.6",
"gene_symbol": "NCAM2",
"hgnc_id": 7657,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.482-538C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}