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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: 11-125961960-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=125961960&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 125961960,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001378964.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "NM_001378964.1",
"protein_id": "NP_001365893.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3744,
"cdna_end": null,
"cdna_length": 8265,
"mane_select": "ENST00000531738.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "ENST00000531738.6",
"protein_id": "ENSP00000432901.2",
"transcript_support_level": 1,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3744,
"cdna_end": null,
"cdna_length": 8265,
"mane_select": "NM_001378964.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "ENST00000392693.7",
"protein_id": "ENSP00000376458.3",
"transcript_support_level": 1,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3523,
"cdna_end": null,
"cdna_length": 9138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "ENST00000263577.11",
"protein_id": "ENSP00000263577.7",
"transcript_support_level": 1,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3523,
"cdna_end": null,
"cdna_length": 4186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "NM_001243597.3",
"protein_id": "NP_001230526.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 8122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "NM_001441161.1",
"protein_id": "NP_001428090.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3744,
"cdna_end": null,
"cdna_length": 8334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "NM_001441162.1",
"protein_id": "NP_001428091.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3714,
"cdna_end": null,
"cdna_length": 8304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "ENST00000684078.1",
"protein_id": "ENSP00000507318.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3520,
"cdna_end": null,
"cdna_length": 9135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "NM_001441163.1",
"protein_id": "NP_001428092.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3586,
"cdna_end": null,
"cdna_length": 8107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "NM_001441164.1",
"protein_id": "NP_001428093.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3714,
"cdna_end": null,
"cdna_length": 8235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "NM_001441165.1",
"protein_id": "NP_001428094.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3610,
"cdna_end": null,
"cdna_length": 8131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "NM_001441166.1",
"protein_id": "NP_001428095.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3486,
"cdna_end": null,
"cdna_length": 8007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "NM_016952.6",
"protein_id": "NP_058648.4",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 8053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "XM_011542863.3",
"protein_id": "XP_011541165.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3395,
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"cdna_start": 3586,
"cdna_end": null,
"cdna_length": 8176,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "XM_011542865.3",
"protein_id": "XP_011541167.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3485,
"cdna_end": null,
"cdna_length": 8075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "XM_017017873.2",
"protein_id": "XP_016873362.1",
"transcript_support_level": null,
"aa_start": 1132,
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"cds_start": 3395,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg",
"transcript": "XM_047427060.1",
"protein_id": "XP_047283016.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 6820,
"cdna_end": null,
"cdna_length": 11410,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "n.1913C>G",
"hgvs_p": null,
"transcript": "ENST00000680589.1",
"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": 5803,
"mane_select": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "n.1018C>G",
"hgvs_p": null,
"transcript": "ENST00000683597.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"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": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "n.*1119C>G",
"hgvs_p": null,
"transcript": "ENST00000683716.1",
"protein_id": "ENSP00000506883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 7656,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "n.1470C>G",
"hgvs_p": null,
"transcript": "ENST00000683981.1",
"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": 5352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"hgvs_c": "n.*1119C>G",
"hgvs_p": null,
"transcript": "ENST00000683716.1",
"protein_id": "ENSP00000506883.1",
"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": 7656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDON",
"gene_hgnc_id": 17104,
"dbsnp": "rs754025360",
"frequency_reference_population": 0.0000068148506,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000478835,
"gnomad_genomes_af": 0.0000262743,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28066328167915344,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.2435,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.22,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001378964.1",
"gene_symbol": "CDON",
"hgnc_id": 17104,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3395C>G",
"hgvs_p": "p.Pro1132Arg"
}
],
"clinvar_disease": "Holoprosencephaly 11",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Holoprosencephaly 11",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}