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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: 11-22274548-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=22274548&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 22274548,
"ref": "C",
"alt": "CT",
"effect": "intron_variant",
"transcript": "ENST00000324559.9",
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2236-10dupT",
"hgvs_p": null,
"transcript": "NM_213599.3",
"protein_id": "NP_998764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6742,
"mane_select": "ENST00000324559.9",
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2236-21_2236-20insT",
"hgvs_p": null,
"transcript": "ENST00000324559.9",
"protein_id": "ENSP00000315371.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6742,
"mane_select": "NM_213599.3",
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2233-10dupT",
"hgvs_p": null,
"transcript": "NM_001142649.2",
"protein_id": "NP_001136121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": -4,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6739,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2194-10dupT",
"hgvs_p": null,
"transcript": "NM_001410963.1",
"protein_id": "NP_001397892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": -4,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6700,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2194-21_2194-20insT",
"hgvs_p": null,
"transcript": "ENST00000682341.1",
"protein_id": "ENSP00000508251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 899,
"cds_start": -4,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6739,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2191-10dupT",
"hgvs_p": null,
"transcript": "NM_001410964.1",
"protein_id": "NP_001397893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6697,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2191-21_2191-20insT",
"hgvs_p": null,
"transcript": "ENST00000684663.1",
"protein_id": "ENSP00000508009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6947,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2158-10dupT",
"hgvs_p": null,
"transcript": "NM_001441294.1",
"protein_id": "NP_001428223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 887,
"cds_start": -4,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6569,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2155-10dupT",
"hgvs_p": null,
"transcript": "NM_001441295.1",
"protein_id": "NP_001428224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": -4,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
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"cdna_length": 6566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 17,
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"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2143-10dupT",
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"transcript": "NM_001441296.1",
"protein_id": "NP_001428225.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 882,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 18,
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"gene_symbol": "ANO5",
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"hgvs_c": "c.2116-10dupT",
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"transcript": "NM_001441297.1",
"protein_id": "NP_001428226.1",
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},
{
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],
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"gene_symbol": "ANO5",
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},
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],
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"gene_symbol": "ANO5",
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"hgvs_c": "c.2077-10dupT",
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},
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],
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"gene_symbol": "ANO5",
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},
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],
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},
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],
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],
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"hgvs_c": "c.1786-21_1786-20insT",
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},
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],
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"gene_symbol": "ANO5",
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"hgvs_c": "c.1786-21_1786-20insT",
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"transcript": "ENST00000683411.1",
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 21,
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"gene_symbol": "ANO5",
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"hgvs_c": "n.2571-21_2571-20insT",
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"transcript": "ENST00000648804.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "n.3230-21_3230-20insT",
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"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2158-10dupT",
"hgvs_p": null,
"transcript": "XM_005252822.5",
"protein_id": "XP_005252879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 887,
"cds_start": -4,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6548,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2155-10dupT",
"hgvs_p": null,
"transcript": "XM_047426522.1",
"protein_id": "XP_047282478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": -4,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"dbsnp": "rs72105710",
"frequency_reference_population": 0.019360114,
"hom_count_reference_population": 16,
"allele_count_reference_population": 22354,
"gnomad_exomes_af": 0.0210761,
"gnomad_genomes_af": 0.00760265,
"gnomad_exomes_ac": 21236,
"gnomad_genomes_ac": 1118,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 10,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.693,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000324559.9",
"gene_symbol": "ANO5",
"hgnc_id": 27337,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2236-21_2236-20insT",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2L,Gnathodiaphyseal dysplasia,Miyoshi muscular dystrophy 3,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Autosomal recessive limb-girdle muscular dystrophy type 2L|not provided|Gnathodiaphyseal dysplasia|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}