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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: 20-19925071-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=19925071&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 19925071,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000255006.12",
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.58-10028C>T",
"hgvs_p": null,
"transcript": "NM_018993.4",
"protein_id": "NP_061866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "ENST00000255006.12",
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.58-10028C>T",
"hgvs_p": null,
"transcript": "ENST00000255006.12",
"protein_id": "ENSP00000255006.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "NM_018993.4",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.58-10028C>T",
"hgvs_p": null,
"transcript": "ENST00000440354.2",
"protein_id": "ENSP00000391239.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1837,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.205-10028C>T",
"hgvs_p": null,
"transcript": "NM_001242581.2",
"protein_id": "NP_001229510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 944,
"cds_start": -4,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4392,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.58-10028C>T",
"hgvs_p": null,
"transcript": "ENST00000648440.1",
"protein_id": "ENSP00000498085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4505,
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.-488-10028C>T",
"hgvs_p": null,
"transcript": "NM_001378238.1",
"protein_id": "NP_001365167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 689,
"cds_start": -4,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "n.144-10028C>T",
"hgvs_p": null,
"transcript": "ENST00000459721.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "n.132-10028C>T",
"hgvs_p": null,
"transcript": "ENST00000467569.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "n.250-10028C>T",
"hgvs_p": null,
"transcript": "ENST00000488077.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.205-10028C>T",
"hgvs_p": null,
"transcript": "XM_017027887.2",
"protein_id": "XP_016883376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 944,
"cds_start": -4,
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"cds_length": 2835,
"cdna_start": null,
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"cdna_length": 5069,
"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,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.205-10028C>T",
"hgvs_p": null,
"transcript": "XM_017027888.2",
"protein_id": "XP_016883377.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "RIN2",
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"hgvs_c": "c.205-10028C>T",
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"transcript": "XM_047440209.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "RIN2",
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"hgvs_c": "c.205-10028C>T",
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"transcript": "XM_047440210.1",
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},
{
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],
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"gene_symbol": "RIN2",
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"hgvs_c": "c.205-10028C>T",
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},
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],
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "RIN2",
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"hgvs_c": "c.205-10028C>T",
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},
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],
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"gene_symbol": "RIN2",
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"hgvs_c": "c.154-10028C>T",
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"transcript": "XM_011529255.3",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.58-10028C>T",
"hgvs_p": null,
"transcript": "XM_006723577.2",
"protein_id": "XP_006723640.1",
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},
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],
"exon_rank": null,
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],
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},
{
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],
"exon_rank": null,
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"gene_symbol": "RIN2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"hgvs_c": "c.154-10028C>T",
"hgvs_p": null,
"transcript": "XM_017027893.2",
"protein_id": "XP_016883382.2",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "RIN2",
"gene_hgnc_id": 18750,
"dbsnp": "rs369005",
"frequency_reference_population": 0.43411678,
"hom_count_reference_population": 14226,
"allele_count_reference_population": 63981,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.434117,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 63981,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 14226,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1,
"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": -1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.245,
"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": "ENST00000255006.12",
"gene_symbol": "RIN2",
"hgnc_id": 18750,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.58-10028C>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
}