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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: 9-120389025-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=120389025&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 120389025,
"ref": "G",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "NM_018249.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.3317C>G",
"hgvs_p": null,
"transcript": "ENST00000484546.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.*211C>G",
"hgvs_p": null,
"transcript": "NM_018249.6",
"protein_id": "NP_060719.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1893,
"cds_start": -4,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": "ENST00000349780.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.*211C>G",
"hgvs_p": null,
"transcript": "ENST00000349780.9",
"protein_id": "ENSP00000343818.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1893,
"cds_start": -4,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": "NM_018249.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.*211C>G",
"hgvs_p": null,
"transcript": "ENST00000360190.8",
"protein_id": "ENSP00000353317.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1814,
"cds_start": -4,
"cds_end": null,
"cds_length": 5445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.4140C>G",
"hgvs_p": null,
"transcript": "ENST00000479584.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.6183C>G",
"hgvs_p": null,
"transcript": "ENST00000684780.1",
"protein_id": null,
"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": 6327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*3483C>G",
"hgvs_p": null,
"transcript": "ENST00000686376.1",
"protein_id": "ENSP00000510021.1",
"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": 5848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.9447C>G",
"hgvs_p": null,
"transcript": "ENST00000686842.1",
"protein_id": null,
"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": 9585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.5856C>G",
"hgvs_p": null,
"transcript": "ENST00000687311.1",
"protein_id": null,
"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": 6000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.5028C>G",
"hgvs_p": null,
"transcript": "ENST00000688923.1",
"protein_id": null,
"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": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.2281C>G",
"hgvs_p": null,
"transcript": "ENST00000689012.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*3069C>G",
"hgvs_p": null,
"transcript": "ENST00000690814.1",
"protein_id": "ENSP00000508792.1",
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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
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*1944C>G",
"hgvs_p": null,
"transcript": "ENST00000691551.1",
"protein_id": "ENSP00000508799.1",
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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
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
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"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*3483C>G",
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"transcript": "ENST00000692155.1",
"protein_id": "ENSP00000510290.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 35,
"intron_rank": null,
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"gene_symbol": "CDK5RAP2",
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"hgvs_c": "n.5563C>G",
"hgvs_p": null,
"transcript": "ENST00000692746.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
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"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*1811C>G",
"hgvs_p": null,
"transcript": "ENST00000693386.1",
"protein_id": "ENSP00000510003.1",
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},
{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
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"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.9649C>G",
"hgvs_p": null,
"transcript": "ENST00000693433.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.10559C>G",
"hgvs_p": null,
"transcript": "ENST00000693714.1",
"protein_id": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.6157C>G",
"hgvs_p": null,
"transcript": "NR_073554.2",
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},
{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "CDK5RAP2",
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"hgvs_c": "n.6080C>G",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
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"gene_symbol": "CDK5RAP2",
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"hgvs_c": "n.6289C>G",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.6162C>G",
"hgvs_p": null,
"transcript": "NR_073557.2",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.6159C>G",
"hgvs_p": null,
"transcript": "NR_073558.2",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Microcephaly 3, primary, autosomal recessive",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}