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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: 4-87834676-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=87834676&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 87834676,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000361056.4",
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-12-27T>A",
"hgvs_p": null,
"transcript": "NM_020203.6",
"protein_id": "NP_064588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": "ENST00000361056.4",
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-12-27T>A",
"hgvs_p": null,
"transcript": "ENST00000361056.4",
"protein_id": "ENSP00000354341.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": "NM_020203.6",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-12-27T>A",
"hgvs_p": null,
"transcript": "ENST00000560249.6",
"protein_id": "ENSP00000453994.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2177,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-12-27T>A",
"hgvs_p": null,
"transcript": "NM_001291183.2",
"protein_id": "NP_001278112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2075,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-12-27T>A",
"hgvs_p": null,
"transcript": "ENST00000395102.8",
"protein_id": "ENSP00000378534.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2123,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-12-27T>A",
"hgvs_p": null,
"transcript": "NM_001184694.3",
"protein_id": "NP_001171623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2010,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-12-27T>A",
"hgvs_p": null,
"transcript": "ENST00000424957.8",
"protein_id": "ENSP00000416984.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2032,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-313-27T>A",
"hgvs_p": null,
"transcript": "ENST00000497649.6",
"protein_id": "ENSP00000422747.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": -4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2226,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-457-27T>A",
"hgvs_p": null,
"transcript": "NM_001184695.4",
"protein_id": "NP_001171624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2088,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-479-27T>A",
"hgvs_p": null,
"transcript": "NM_001184696.2",
"protein_id": "NP_001171625.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-550-27T>A",
"hgvs_p": null,
"transcript": "NM_001184697.2",
"protein_id": "NP_001171626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2181,
"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": 5,
"intron_rank": 1,
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"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-12-27T>A",
"hgvs_p": null,
"transcript": "ENST00000511670.5",
"protein_id": "ENSP00000421430.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"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": 5,
"intron_rank": 1,
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"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.-12-27T>A",
"hgvs_p": null,
"transcript": "ENST00000515821.5",
"protein_id": "ENSP00000509709.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 95,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": null,
"hgvs_c": "n.286-48228A>T",
"hgvs_p": null,
"transcript": "ENST00000829020.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "ENSG00000307815",
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"hgvs_c": "n.341-48228A>T",
"hgvs_p": null,
"transcript": "ENST00000829021.1",
"protein_id": null,
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"aa_start": 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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": null,
"hgvs_c": "n.336-48228A>T",
"hgvs_p": null,
"transcript": "ENST00000829022.1",
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},
{
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],
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"hgvs_c": "n.336-48228A>T",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": null,
"hgvs_c": "n.402-48228A>T",
"hgvs_p": null,
"transcript": "ENST00000829024.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": null,
"hgvs_c": "n.326-2572A>T",
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"transcript": "ENST00000829026.1",
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},
{
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"strand": false,
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"intron_variant"
],
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"intron_rank": 3,
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"gene_symbol": "ENSG00000307815",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": null,
"hgvs_c": "n.408-2572A>T",
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"transcript": "ENST00000829028.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": null,
"hgvs_c": "n.245-2572A>T",
"hgvs_p": null,
"transcript": "ENST00000829031.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"dbsnp": "rs7698623",
"frequency_reference_population": 0.00015158138,
"hom_count_reference_population": 1,
"allele_count_reference_population": 240,
"gnomad_exomes_af": 0.000153736,
"gnomad_genomes_af": 0.000131334,
"gnomad_exomes_ac": 220,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.434,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000361056.4",
"gene_symbol": "MEPE",
"hgnc_id": 13361,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-12-27T>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000829020.1",
"gene_symbol": "ENSG00000307815",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.286-48228A>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
}