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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: 3-78598940-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=78598940&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 78598940,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_002941.4",
"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": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4942-13G>T",
"hgvs_p": null,
"transcript": "NM_002941.4",
"protein_id": "NP_002932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1651,
"cds_start": -4,
"cds_end": null,
"cds_length": 4956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "ENST00000464233.6",
"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": 31,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4942-13G>T",
"hgvs_p": null,
"transcript": "ENST00000464233.6",
"protein_id": "ENSP00000420321.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1651,
"cds_start": -4,
"cds_end": null,
"cds_length": 4956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "NM_002941.4",
"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": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4807-13G>T",
"hgvs_p": null,
"transcript": "ENST00000495273.5",
"protein_id": "ENSP00000420637.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1606,
"cds_start": -4,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5600,
"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": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4642-13G>T",
"hgvs_p": null,
"transcript": "ENST00000467549.5",
"protein_id": "ENSP00000417992.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1551,
"cds_start": -4,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4841,
"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": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4807-13G>T",
"hgvs_p": null,
"transcript": "NM_133631.4",
"protein_id": "NP_598334.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1606,
"cds_start": -4,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7493,
"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": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4642-13G>T",
"hgvs_p": null,
"transcript": "NM_001145845.2",
"protein_id": "NP_001139317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1551,
"cds_start": -4,
"cds_end": null,
"cds_length": 4656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7328,
"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": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4582-13G>T",
"hgvs_p": null,
"transcript": "ENST00000436010.6",
"protein_id": "ENSP00000406043.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1531,
"cds_start": -4,
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"cdna_start": null,
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"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": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4564-13G>T",
"hgvs_p": null,
"transcript": "ENST00000618846.4",
"protein_id": "ENSP00000482448.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": -4,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7483,
"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": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4951-13G>T",
"hgvs_p": null,
"transcript": "XM_011533976.1",
"protein_id": "XP_011532278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1654,
"cds_start": -4,
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"cds_length": 4965,
"cdna_start": null,
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"mane_select": null,
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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": 32,
"intron_rank": 31,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4951-13G>T",
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"transcript": "XM_011533977.3",
"protein_id": "XP_011532279.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4924-13G>T",
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"transcript": "XM_011533978.1",
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},
{
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"consequences": [
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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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"gene_symbol": "ROBO1",
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"hgvs_c": "c.4786-13G>T",
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],
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"gene_symbol": "ROBO1",
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},
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],
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"gene_symbol": "ROBO1",
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"hgvs_c": "c.4594-13G>T",
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"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"dbsnp": "rs374513320",
"frequency_reference_population": 0.0000019558577,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000144733,
"gnomad_genomes_af": 0.00000657903,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.95,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002941.4",
"gene_symbol": "ROBO1",
"hgnc_id": 10249,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4942-13G>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
}