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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: 14-54752276-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=54752276&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 54752276,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000554335.6",
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.1176+739T>C",
"hgvs_p": null,
"transcript": "NM_015589.6",
"protein_id": "NP_056404.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": -4,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7157,
"mane_select": "ENST00000554335.6",
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.1176+739T>C",
"hgvs_p": null,
"transcript": "ENST00000554335.6",
"protein_id": "ENSP00000452535.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": -4,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7157,
"mane_select": "NM_015589.6",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.912+739T>C",
"hgvs_p": null,
"transcript": "ENST00000251091.9",
"protein_id": "ENSP00000251091.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6565,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.1176+739T>C",
"hgvs_p": null,
"transcript": "ENST00000392067.7",
"protein_id": "ENSP00000375919.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": -4,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6833,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.912+739T>C",
"hgvs_p": null,
"transcript": "NM_001161576.2",
"protein_id": "NP_001155048.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6569,
"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": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.-52+739T>C",
"hgvs_p": null,
"transcript": "ENST00000631086.2",
"protein_id": "ENSP00000486821.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6677,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.1176+739T>C",
"hgvs_p": null,
"transcript": "XM_024449514.2",
"protein_id": "XP_024305282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7240,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.1176+739T>C",
"hgvs_p": null,
"transcript": "XM_024449515.2",
"protein_id": "XP_024305283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7268,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.1176+739T>C",
"hgvs_p": null,
"transcript": "XM_047431136.1",
"protein_id": "XP_047287092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7259,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.1176+739T>C",
"hgvs_p": null,
"transcript": "XM_047431137.1",
"protein_id": "XP_047287093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7600,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.1176+739T>C",
"hgvs_p": null,
"transcript": "XM_024449516.2",
"protein_id": "XP_024305284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
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"cdna_length": 7193,
"mane_select": null,
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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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.1176+739T>C",
"hgvs_p": null,
"transcript": "XM_047431138.1",
"protein_id": "XP_047287094.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7151,
"mane_select": null,
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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,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.1176+739T>C",
"hgvs_p": null,
"transcript": "XM_047431139.1",
"protein_id": "XP_047287095.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.912+739T>C",
"hgvs_p": null,
"transcript": "XM_047431140.1",
"protein_id": "XP_047287096.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.912+739T>C",
"hgvs_p": null,
"transcript": "XM_047431141.1",
"protein_id": "XP_047287097.1",
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"aa_start": null,
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"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.873+739T>C",
"hgvs_p": null,
"transcript": "XM_047431142.1",
"protein_id": "XP_047287098.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 5,
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"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.912+739T>C",
"hgvs_p": null,
"transcript": "XM_047431143.1",
"protein_id": "XP_047287099.1",
"transcript_support_level": null,
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"cds_start": -4,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.912+739T>C",
"hgvs_p": null,
"transcript": "XM_047431144.1",
"protein_id": "XP_047287100.1",
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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": 12,
"intron_rank": 5,
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"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"hgvs_c": "c.912+739T>C",
"hgvs_p": null,
"transcript": "XM_047431145.1",
"protein_id": "XP_047287101.1",
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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": "SAMD4A",
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"hgvs_c": "c.912+739T>C",
"hgvs_p": null,
"transcript": "XM_047431146.1",
"protein_id": "XP_047287102.1",
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"cdna_start": null,
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"feature": null
}
],
"gene_symbol": "SAMD4A",
"gene_hgnc_id": 23023,
"dbsnp": "rs1957356",
"frequency_reference_population": 0.7727052,
"hom_count_reference_population": 45480,
"allele_count_reference_population": 117598,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.772705,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 117598,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 45480,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.698,
"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": "ENST00000554335.6",
"gene_symbol": "SAMD4A",
"hgnc_id": 23023,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1176+739T>C",
"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
}