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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: 4-15008380-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=15008380&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 15008380,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001177382.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Leu663Ile",
"transcript": "NM_001177382.2",
"protein_id": "NP_001170853.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1987,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000538197.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177382.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Leu663Ile",
"transcript": "ENST00000538197.7",
"protein_id": "ENSP00000443985.1",
"transcript_support_level": 5,
"aa_start": 663,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1987,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001177382.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538197.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Leu663Ile",
"transcript": "ENST00000507071.6",
"protein_id": "ENSP00000424084.2",
"transcript_support_level": 1,
"aa_start": 663,
"aa_end": null,
"aa_length": 1026,
"cds_start": 1987,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507071.6"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1944+794C>A",
"hgvs_p": null,
"transcript": "ENST00000382395.8",
"protein_id": "ENSP00000371832.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": null,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382395.8"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1953+785C>A",
"hgvs_p": null,
"transcript": "ENST00000382401.8",
"protein_id": "ENSP00000371838.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": null,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382401.8"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1944+794C>A",
"hgvs_p": null,
"transcript": "ENST00000345451.8",
"protein_id": "ENSP00000334058.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": null,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345451.8"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Leu663Ile",
"transcript": "NM_182485.3",
"protein_id": "NP_872291.2",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 1026,
"cds_start": 1987,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182485.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1996C>A",
"hgvs_p": "p.Leu666Ile",
"transcript": "XM_005248135.4",
"protein_id": "XP_005248192.2",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 1037,
"cds_start": 1996,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248135.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1996C>A",
"hgvs_p": "p.Leu666Ile",
"transcript": "XM_011513777.4",
"protein_id": "XP_011512079.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 1029,
"cds_start": 1996,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513777.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1996C>A",
"hgvs_p": "p.Leu666Ile",
"transcript": "XM_011513778.4",
"protein_id": "XP_011512080.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 726,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513778.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Leu92Ile",
"transcript": "XM_017007733.2",
"protein_id": "XP_016863222.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 463,
"cds_start": 274,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007733.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.274C>A",
"hgvs_p": "p.Leu92Ile",
"transcript": "XM_017007734.3",
"protein_id": "XP_016863223.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 463,
"cds_start": 274,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007734.3"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1953+785C>A",
"hgvs_p": null,
"transcript": "NM_001177381.2",
"protein_id": "NP_001170852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1007,
"cds_start": null,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177381.2"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1953+785C>A",
"hgvs_p": null,
"transcript": "ENST00000442003.6",
"protein_id": "ENSP00000414270.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1007,
"cds_start": null,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442003.6"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1944+794C>A",
"hgvs_p": null,
"transcript": "NM_001177383.2",
"protein_id": "NP_001170854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": null,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177383.2"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1953+785C>A",
"hgvs_p": null,
"transcript": "NM_001177384.2",
"protein_id": "NP_001170855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": null,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177384.2"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1944+794C>A",
"hgvs_p": null,
"transcript": "NM_182646.3",
"protein_id": "NP_872587.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": null,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182646.3"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "c.1944+794C>A",
"hgvs_p": null,
"transcript": "XM_011513779.3",
"protein_id": "XP_011512081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": null,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513779.3"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "C1QTNF7-AS1",
"gene_hgnc_id": 40683,
"hgvs_c": "n.315-1810G>T",
"hgvs_p": null,
"transcript": "ENST00000502344.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000502344.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"hgvs_c": "n.220+794C>A",
"hgvs_p": null,
"transcript": "ENST00000503926.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000503926.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "C1QTNF7-AS1",
"gene_hgnc_id": 40683,
"hgvs_c": "n.414-1810G>T",
"hgvs_p": null,
"transcript": "ENST00000513384.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000513384.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "C1QTNF7-AS1",
"gene_hgnc_id": 40683,
"hgvs_c": "n.315-1810G>T",
"hgvs_p": null,
"transcript": "NR_125911.1",
"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": "NR_125911.1"
}
],
"gene_symbol": "CPEB2",
"gene_hgnc_id": 21745,
"dbsnp": "rs761153360",
"frequency_reference_population": 6.841368e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84137e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21938025951385498,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.1485,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.595,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001177382.2",
"gene_symbol": "CPEB2",
"hgnc_id": 21745,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Leu663Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000502344.6",
"gene_symbol": "C1QTNF7-AS1",
"hgnc_id": 40683,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.315-1810G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}