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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: 11-107336628-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=107336628&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 107336628,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152434.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Gln763Arg",
"transcript": "NM_152434.3",
"protein_id": "NP_689647.2",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 894,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282251.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152434.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Gln763Arg",
"transcript": "ENST00000282251.10",
"protein_id": "ENSP00000282251.5",
"transcript_support_level": 1,
"aa_start": 763,
"aa_end": null,
"aa_length": 894,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152434.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282251.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "n.*136A>G",
"hgvs_p": null,
"transcript": "ENST00000431778.5",
"protein_id": "ENSP00000411736.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431778.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "n.*211A>G",
"hgvs_p": null,
"transcript": "ENST00000532251.1",
"protein_id": "ENSP00000434704.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532251.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "n.*136A>G",
"hgvs_p": null,
"transcript": "ENST00000431778.5",
"protein_id": "ENSP00000411736.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431778.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "n.*211A>G",
"hgvs_p": null,
"transcript": "ENST00000532251.1",
"protein_id": "ENSP00000434704.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532251.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.2399A>G",
"hgvs_p": "p.Gln800Arg",
"transcript": "ENST00000897060.1",
"protein_id": "ENSP00000567119.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 931,
"cds_start": 2399,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897060.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.2285A>G",
"hgvs_p": "p.Gln762Arg",
"transcript": "ENST00000897061.1",
"protein_id": "ENSP00000567120.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 893,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897061.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.2198A>G",
"hgvs_p": "p.Gln733Arg",
"transcript": "ENST00000897062.1",
"protein_id": "ENSP00000567121.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 864,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897062.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.2171A>G",
"hgvs_p": "p.Gln724Arg",
"transcript": "ENST00000942360.1",
"protein_id": "ENSP00000612419.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 855,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942360.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Gln717Arg",
"transcript": "ENST00000897063.1",
"protein_id": "ENSP00000567122.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 848,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897063.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.1958A>G",
"hgvs_p": "p.Gln653Arg",
"transcript": "ENST00000931976.1",
"protein_id": "ENSP00000602035.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 784,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931976.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.860A>G",
"hgvs_p": "p.Gln287Arg",
"transcript": "XM_047426419.1",
"protein_id": "XP_047282375.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 418,
"cds_start": 860,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426419.1"
},
{
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "c.2203-1667A>G",
"hgvs_p": null,
"transcript": "ENST00000942361.1",
"protein_id": "ENSP00000612420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942361.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"hgvs_c": "n.2374A>G",
"hgvs_p": null,
"transcript": "XR_007062452.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007062452.1"
}
],
"gene_symbol": "CWF19L2",
"gene_hgnc_id": 26508,
"dbsnp": "rs149794929",
"frequency_reference_population": 0.0012543963,
"hom_count_reference_population": 4,
"allele_count_reference_population": 2013,
"gnomad_exomes_af": 0.00130941,
"gnomad_genomes_af": 0.000729313,
"gnomad_exomes_ac": 1902,
"gnomad_genomes_ac": 111,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01103508472442627,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.093,
"revel_prediction": "Benign",
"alphamissense_score": 0.0809,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.568,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_152434.3",
"gene_symbol": "CWF19L2",
"hgnc_id": 26508,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Gln763Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}