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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: 6-30011802-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30011802&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30011802,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000420251.5",
"consequences": [
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.709-9070A>G",
"hgvs_p": null,
"transcript": "ENST00000420251.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000420251.5"
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.626-1971A>G",
"hgvs_p": null,
"transcript": "ENST00000376797.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000376797.7"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.822+9865A>G",
"hgvs_p": null,
"transcript": "ENST00000422224.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000422224.6"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.265-9070A>G",
"hgvs_p": null,
"transcript": "ENST00000425604.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000425604.5"
},
{
"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": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.575-9070A>G",
"hgvs_p": null,
"transcript": "ENST00000448093.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000448093.5"
},
{
"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": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.361-34407A>G",
"hgvs_p": null,
"transcript": "ENST00000688495.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000688495.1"
},
{
"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": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.411-1971A>G",
"hgvs_p": null,
"transcript": "ENST00000702304.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 719,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000702304.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.588+9865A>G",
"hgvs_p": null,
"transcript": "ENST00000849678.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000849678.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.505+9865A>G",
"hgvs_p": null,
"transcript": "ENST00000849680.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000849680.1"
},
{
"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": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.597+9865A>G",
"hgvs_p": null,
"transcript": "ENST00000849681.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000849681.1"
},
{
"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": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.389+9865A>G",
"hgvs_p": null,
"transcript": "ENST00000849683.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000849683.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.514+9865A>G",
"hgvs_p": null,
"transcript": "ENST00000849684.1",
"protein_id": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000849684.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.735+9865A>G",
"hgvs_p": null,
"transcript": "ENST00000849685.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.613-1971A>G",
"hgvs_p": null,
"transcript": "ENST00000849686.1",
"protein_id": null,
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"feature": "ENST00000849686.1"
},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "POLR1HASP",
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"hgvs_c": "n.304-4160A>G",
"hgvs_p": null,
"transcript": "ENST00000849687.1",
"protein_id": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000849687.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.506-8434A>G",
"hgvs_p": null,
"transcript": "ENST00000849688.1",
"protein_id": null,
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},
{
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],
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.552-9070A>G",
"hgvs_p": null,
"transcript": "ENST00000849689.1",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000849689.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.550-8434A>G",
"hgvs_p": null,
"transcript": "ENST00000849690.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000849690.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
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"hgvs_c": "n.821-9070A>G",
"hgvs_p": null,
"transcript": "ENST00000849691.1",
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},
{
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"strand": false,
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"intron_variant"
],
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"intron_rank": 4,
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"gene_symbol": "POLR1HASP",
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"transcript": "ENST00000849692.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "POLR1HASP",
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"biotype": "pseudogene",
"feature": "ENST00000849694.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"hgvs_c": "n.506-1971A>G",
"hgvs_p": null,
"transcript": "ENST00000849696.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000849696.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": 13924,
"hgvs_c": "n.714-9070A>G",
"hgvs_p": null,
"transcript": "NR_026751.2",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"cdna_length": 2435,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_026751.2"
}
],
"gene_symbol": "POLR1HASP",
"gene_hgnc_id": null,
"dbsnp": "rs9261129",
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"hom_count_reference_population": 2727,
"allele_count_reference_population": 25919,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.170783,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 25919,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2727,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0700000524520874,
"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": -1.07,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.629,
"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": "ENST00000420251.5",
"gene_symbol": "POLR1HASP",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.709-9070A>G",
"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
}