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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: 7-134779071-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=134779071&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 134779071,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001438769.1",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-129-64813A>G",
"hgvs_p": null,
"transcript": "NM_001438769.1",
"protein_id": "NP_001425698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": -4,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4307,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-129-64813A>G",
"hgvs_p": null,
"transcript": "NM_001438770.1",
"protein_id": "NP_001425699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": -4,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4404,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-129-64813A>G",
"hgvs_p": null,
"transcript": "NM_001438778.1",
"protein_id": "NP_001425707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4229,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-129-64813A>G",
"hgvs_p": null,
"transcript": "NM_001438779.1",
"protein_id": "NP_001425708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4326,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+33499A>G",
"hgvs_p": null,
"transcript": "NM_001438780.1",
"protein_id": "NP_001425709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4236,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+34708A>G",
"hgvs_p": null,
"transcript": "ENST00000417172.5",
"protein_id": "ENSP00000398826.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1915,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+33499A>G",
"hgvs_p": null,
"transcript": "NM_001438784.1",
"protein_id": "NP_001425713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": -4,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
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"cdna_length": 4233,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"hgvs_c": "c.-130+33499A>G",
"hgvs_p": null,
"transcript": "ENST00000436461.6",
"protein_id": "ENSP00000411476.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1614,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286458",
"gene_hgnc_id": null,
"hgvs_c": "n.301+35593T>C",
"hgvs_p": null,
"transcript": "ENST00000772186.1",
"protein_id": null,
"transcript_support_level": null,
"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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"cdna_length": 1714,
"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,
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"gene_symbol": "ENSG00000286458",
"gene_hgnc_id": null,
"hgvs_c": "n.347-27104T>C",
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"transcript": "ENST00000772188.1",
"protein_id": null,
"transcript_support_level": 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": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000286458",
"gene_hgnc_id": null,
"hgvs_c": "n.154+35593T>C",
"hgvs_p": null,
"transcript": "ENST00000772189.1",
"protein_id": null,
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},
{
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],
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},
{
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],
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],
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},
{
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],
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CALD1",
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"hgvs_c": "c.-130+33499A>G",
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"transcript": "XM_047420865.1",
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},
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},
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],
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"intron_rank": 1,
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"gene_symbol": "CALD1",
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"hgvs_c": "c.-130+33499A>G",
"hgvs_p": null,
"transcript": "XM_047420871.1",
"protein_id": "XP_047276827.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "LOC124901750",
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],
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},
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "LOC124901750",
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"hgvs_c": "n.29221+35593T>C",
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"feature": null
}
],
"gene_symbol": "CALD1",
"gene_hgnc_id": 1441,
"dbsnp": "rs3807337",
"frequency_reference_population": 0.36735514,
"hom_count_reference_population": 11718,
"allele_count_reference_population": 55849,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.367355,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 55849,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 11718,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.034,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "NM_001438769.1",
"gene_symbol": "CALD1",
"hgnc_id": 1441,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-129-64813A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000772186.1",
"gene_symbol": "ENSG00000286458",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.301+35593T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007060535.1",
"gene_symbol": "LOC124901750",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.29221+35593T>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
}