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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: 6-25481763-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=25481763&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 25481763,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000329474.7",
"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": 37,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "NM_017640.6",
"protein_id": "NP_060110.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": -4,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": "ENST00000329474.7",
"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": 37,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "ENST00000329474.7",
"protein_id": "ENSP00000331983.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": -4,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": "NM_017640.6",
"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": 37,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "NM_001173977.2",
"protein_id": "NP_001167448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": -4,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5467,
"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": 37,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "ENST00000700669.1",
"protein_id": "ENSP00000515137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": -4,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4365,
"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": 40,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "XM_017011008.2",
"protein_id": "XP_016866497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1431,
"cds_start": -4,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5665,
"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": 40,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "XM_017011009.2",
"protein_id": "XP_016866498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1430,
"cds_start": -4,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5662,
"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": 39,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "XM_017011010.2",
"protein_id": "XP_016866499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1427,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5653,
"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": 39,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "XM_017011011.2",
"protein_id": "XP_016866500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1425,
"cds_start": -4,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5647,
"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": 40,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "XM_017011012.2",
"protein_id": "XP_016866501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1425,
"cds_start": -4,
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"cds_length": 4278,
"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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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "XM_024446484.2",
"protein_id": "XP_024302252.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1424,
"cds_start": -4,
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"cdna_start": null,
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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": 38,
"intron_rank": 11,
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"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
"hgvs_p": null,
"transcript": "XM_005249218.2",
"protein_id": "XP_005249275.1",
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},
{
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],
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"gene_symbol": "CARMIL1",
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},
{
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],
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"gene_symbol": "CARMIL1",
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},
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],
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"gene_symbol": "CARMIL1",
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],
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},
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],
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"gene_symbol": "CARMIL1",
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},
{
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],
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"gene_symbol": "CARMIL1",
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],
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},
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],
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"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"hgvs_c": "c.875-494G>A",
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"transcript": "XM_017011017.2",
"protein_id": "XP_016866506.1",
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}
],
"gene_symbol": "CARMIL1",
"gene_hgnc_id": 21581,
"dbsnp": "rs10498726",
"frequency_reference_population": 0.15280864,
"hom_count_reference_population": 2156,
"allele_count_reference_population": 23248,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.152809,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 23248,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2156,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.507,
"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": "ENST00000329474.7",
"gene_symbol": "CARMIL1",
"hgnc_id": 21581,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.875-494G>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
}