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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: 13-37585496-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=37585496&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 37585496,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000379747.9",
"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": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_006475.3",
"protein_id": "NP_006466.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 836,
"cds_start": -4,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": "ENST00000379747.9",
"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": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "ENST00000379747.9",
"protein_id": "ENSP00000369071.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 836,
"cds_start": -4,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": "NM_006475.3",
"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": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "ENST00000379743.8",
"protein_id": "ENSP00000369067.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3196,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "ENST00000541179.5",
"protein_id": "ENSP00000437959.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": -4,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3214,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "ENST00000379742.4",
"protein_id": "ENSP00000369066.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": -4,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3071,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "ENST00000541481.5",
"protein_id": "ENSP00000437953.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3113,
"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": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_001286665.2",
"protein_id": "NP_001273594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3220,
"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": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_001330517.2",
"protein_id": "NP_001317446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": -4,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3217,
"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": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "ENST00000379749.8",
"protein_id": "ENSP00000369073.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": -4,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3210,
"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": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_001424172.1",
"protein_id": "NP_001411101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3211,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_001135935.2",
"protein_id": "NP_001129407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_001135934.2",
"protein_id": "NP_001129406.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 779,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_001424173.1",
"protein_id": "NP_001411102.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_001135936.2",
"protein_id": "NP_001129408.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_001286666.2",
"protein_id": "NP_001273595.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"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": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_001424174.1",
"protein_id": "NP_001411103.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 7,
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"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "NM_001286667.2",
"protein_id": "NP_001273596.1",
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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": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "XM_017020355.2",
"protein_id": "XP_016875844.1",
"transcript_support_level": null,
"aa_start": 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": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "XM_017020356.2",
"protein_id": "XP_016875845.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"hgvs_c": "c.896-568T>C",
"hgvs_p": null,
"transcript": "XM_047430052.1",
"protein_id": "XP_047286008.1",
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3356,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "POSTN",
"gene_hgnc_id": 16953,
"dbsnp": "rs12871092",
"frequency_reference_population": 0.085469805,
"hom_count_reference_population": 808,
"allele_count_reference_population": 13015,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0854698,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 13015,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 808,
"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,
"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": -0.14,
"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": "ENST00000379747.9",
"gene_symbol": "POSTN",
"hgnc_id": 16953,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.896-568T>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
}