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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: 2-27458731-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27458731&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27458731,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000260570.8",
"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": 48,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2877+48T>G",
"hgvs_p": null,
"transcript": "NM_015662.3",
"protein_id": "NP_056477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1749,
"cds_start": -4,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "ENST00000260570.8",
"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": 48,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2877+48T>G",
"hgvs_p": null,
"transcript": "ENST00000260570.8",
"protein_id": "ENSP00000260570.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1749,
"cds_start": -4,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "NM_015662.3",
"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": 48,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2811+48T>G",
"hgvs_p": null,
"transcript": "NM_001410739.1",
"protein_id": "NP_001397668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1727,
"cds_start": -4,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5329,
"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": 48,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2811+48T>G",
"hgvs_p": null,
"transcript": "ENST00000675690.1",
"protein_id": "ENSP00000502283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1727,
"cds_start": -4,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5340,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.335+48T>G",
"hgvs_p": null,
"transcript": "ENST00000476693.1",
"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": 517,
"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": 48,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.3009+48T>G",
"hgvs_p": null,
"transcript": "ENST00000507184.5",
"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": 5565,
"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": 42,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*2050+48T>G",
"hgvs_p": null,
"transcript": "ENST00000674701.1",
"protein_id": "ENSP00000502275.1",
"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,
"cdna_end": null,
"cdna_length": 6271,
"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": 44,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*892+48T>G",
"hgvs_p": null,
"transcript": "ENST00000674824.1",
"protein_id": "ENSP00000501824.1",
"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,
"cdna_end": null,
"cdna_length": 5391,
"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": 44,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*2983+48T>G",
"hgvs_p": null,
"transcript": "ENST00000674932.1",
"protein_id": "ENSP00000501967.1",
"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,
"cdna_end": null,
"cdna_length": 6133,
"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": 43,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*557+48T>G",
"hgvs_p": null,
"transcript": "ENST00000675410.1",
"protein_id": "ENSP00000502030.1",
"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,
"cdna_end": null,
"cdna_length": 5901,
"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": 47,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*2167+48T>G",
"hgvs_p": null,
"transcript": "ENST00000676119.1",
"protein_id": "ENSP00000501701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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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,
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"exon_count": 49,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2814+48T>G",
"hgvs_p": null,
"transcript": "XM_006711986.4",
"protein_id": "XP_006712049.1",
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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": 47,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2877+48T>G",
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"transcript": "XM_006711987.2",
"protein_id": "XP_006712050.1",
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"aa_start": null,
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"cds_start": -4,
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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": 47,
"intron_rank": 26,
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"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.2811+48T>G",
"hgvs_p": null,
"transcript": "XM_047443900.1",
"protein_id": "XP_047299856.1",
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},
{
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"strand": false,
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"intron_variant"
],
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"intron_rank": 23,
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"gene_symbol": "IFT172",
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"hgvs_c": "c.2196+48T>G",
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"transcript": "XM_047443901.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 23,
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"gene_symbol": "IFT172",
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"hgvs_c": "c.2196+48T>G",
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"transcript": "XM_047443902.1",
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},
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],
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"gene_symbol": "IFT172",
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"hgvs_c": "c.2877+48T>G",
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"transcript": "XM_011532758.2",
"protein_id": "XP_011531060.1",
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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": 36,
"intron_rank": 26,
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"gene_symbol": "IFT172",
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"hgvs_c": "c.2811+48T>G",
"hgvs_p": null,
"transcript": "XM_047443903.1",
"protein_id": "XP_047299859.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 12,
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"gene_symbol": "IFT172",
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"hgvs_c": "c.1317+48T>G",
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"transcript": "XM_011532759.3",
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},
{
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],
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"intron_rank": 10,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.942+48T>G",
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"transcript": "XM_011532760.3",
"protein_id": "XP_011531062.1",
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"feature": null
}
],
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"dbsnp": "rs780106",
"frequency_reference_population": 0.4019972,
"hom_count_reference_population": 135281,
"allele_count_reference_population": 642603,
"gnomad_exomes_af": 0.39542,
"gnomad_genomes_af": 0.464591,
"gnomad_exomes_ac": 571988,
"gnomad_genomes_ac": 70615,
"gnomad_exomes_homalt": 117366,
"gnomad_genomes_homalt": 17915,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"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": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.12,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000260570.8",
"gene_symbol": "IFT172",
"hgnc_id": 30391,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2877+48T>G",
"hgvs_p": null
}
],
"clinvar_disease": "Retinitis pigmentosa 71,Short-rib thoracic dysplasia 10 with or without polydactyly,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Short-rib thoracic dysplasia 10 with or without polydactyly|Retinitis pigmentosa 71",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}