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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: 3-47426771-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47426771&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47426771,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000265565.10",
"consequences": [
{
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.737+386G>A",
"hgvs_p": null,
"transcript": "NM_012235.4",
"protein_id": "NP_036367.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1279,
"cds_start": -4,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": "ENST00000265565.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.737+386G>A",
"hgvs_p": null,
"transcript": "ENST00000265565.10",
"protein_id": "ENSP00000265565.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1279,
"cds_start": -4,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": "NM_012235.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.737+386G>A",
"hgvs_p": null,
"transcript": "ENST00000648151.1",
"protein_id": "ENSP00000497087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1279,
"cds_start": -4,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.-28-602G>A",
"hgvs_p": null,
"transcript": "NM_001320044.2",
"protein_id": "NP_001306973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1023,
"cds_start": -4,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "n.253-2726G>A",
"hgvs_p": null,
"transcript": "ENST00000320017.10",
"protein_id": "ENSP00000324296.6",
"transcript_support_level": 2,
"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": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "n.253-4235G>A",
"hgvs_p": null,
"transcript": "ENST00000416208.5",
"protein_id": "ENSP00000409183.1",
"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": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "n.253-602G>A",
"hgvs_p": null,
"transcript": "ENST00000441517.6",
"protein_id": "ENSP00000416847.3",
"transcript_support_level": 2,
"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": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "n.69+386G>A",
"hgvs_p": null,
"transcript": "ENST00000494938.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.737+386G>A",
"hgvs_p": null,
"transcript": "XM_011533501.2",
"protein_id": "XP_011531803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1279,
"cds_start": -4,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.737+386G>A",
"hgvs_p": null,
"transcript": "XM_017005918.2",
"protein_id": "XP_016861407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1279,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.737+386G>A",
"hgvs_p": null,
"transcript": "XM_047447732.1",
"protein_id": "XP_047303688.1",
"transcript_support_level": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "SCAP",
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"hgvs_c": "c.737+386G>A",
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"transcript": "XM_047447733.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "SCAP",
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"hgvs_c": "c.737+386G>A",
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"transcript": "XM_047447734.1",
"protein_id": "XP_047303690.1",
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},
{
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"strand": false,
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],
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"intron_rank": 5,
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"gene_symbol": "SCAP",
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"hgvs_c": "c.737+386G>A",
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"transcript": "XM_047447735.1",
"protein_id": "XP_047303691.1",
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},
{
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],
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},
{
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "SCAP",
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"hgvs_c": "c.737+386G>A",
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"transcript": "XM_005264967.3",
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},
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],
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"transcript": "XM_047447737.1",
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},
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],
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"intron_rank": 6,
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"gene_symbol": "SCAP",
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"hgvs_c": "c.737+386G>A",
"hgvs_p": null,
"transcript": "XM_047447738.1",
"protein_id": "XP_047303694.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "SCAP",
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"transcript": "XM_047447739.1",
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},
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},
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],
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},
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.-28-602G>A",
"hgvs_p": null,
"transcript": "XM_047447742.1",
"protein_id": "XP_047303698.1",
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.-26-4235G>A",
"hgvs_p": null,
"transcript": "XM_047447744.1",
"protein_id": "XP_047303700.1",
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}
],
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"dbsnp": "rs11711824",
"frequency_reference_population": 0.4954494,
"hom_count_reference_population": 20289,
"allele_count_reference_population": 75342,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.495449,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 75342,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 20289,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.53,
"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": "ENST00000265565.10",
"gene_symbol": "SCAP",
"hgnc_id": 30634,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.737+386G>A",
"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
}