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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: 7-135364052-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=135364052&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 135364052,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000541284.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile",
"transcript": "NM_001190850.2",
"protein_id": "NP_001177779.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 713,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": "ENST00000541284.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile",
"transcript": "ENST00000541284.6",
"protein_id": "ENSP00000445508.1",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 713,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": "NM_001190850.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1628-866G>A",
"hgvs_p": null,
"transcript": "ENST00000423368.6",
"protein_id": "ENSP00000406777.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1619-866G>A",
"hgvs_p": null,
"transcript": "ENST00000361528.8",
"protein_id": "ENSP00000354673.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile",
"transcript": "NM_001393370.1",
"protein_id": "NP_001380299.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 713,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "NM_001190849.2",
"protein_id": "NP_001177778.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 710,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "ENST00000451834.5",
"protein_id": "ENSP00000388491.1",
"transcript_support_level": 2,
"aa_start": 545,
"aa_end": null,
"aa_length": 710,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1567G>A",
"hgvs_p": "p.Val523Ile",
"transcript": "NM_001393371.1",
"protein_id": "NP_001380300.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 688,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Val511Ile",
"transcript": "NM_001393372.1",
"protein_id": "NP_001380301.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 676,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1837,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1444G>A",
"hgvs_p": "p.Val482Ile",
"transcript": "NM_001393373.1",
"protein_id": "NP_001380302.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 647,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "XM_047420412.1",
"protein_id": "XP_047276368.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 710,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 3402,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "n.321G>A",
"hgvs_p": null,
"transcript": "ENST00000473470.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 707,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "n.*1054G>A",
"hgvs_p": null,
"transcript": "ENST00000707063.1",
"protein_id": "ENSP00000516714.1",
"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": 2453,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "n.*1054G>A",
"hgvs_p": null,
"transcript": "ENST00000707063.1",
"protein_id": "ENSP00000516714.1",
"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": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1628-866G>A",
"hgvs_p": null,
"transcript": "NM_001190847.2",
"protein_id": "NP_001177776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1619-866G>A",
"hgvs_p": null,
"transcript": "NM_001393374.1",
"protein_id": "NP_001380303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1619-866G>A",
"hgvs_p": null,
"transcript": "NM_013316.4",
"protein_id": "NP_037448.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1517-866G>A",
"hgvs_p": null,
"transcript": "NM_001393375.1",
"protein_id": "NP_001380304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1619-116G>A",
"hgvs_p": null,
"transcript": "ENST00000707062.1",
"protein_id": "ENSP00000516713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1628-866G>A",
"hgvs_p": null,
"transcript": "XM_047420413.1",
"protein_id": "XP_047276369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"dbsnp": "rs3812265",
"frequency_reference_population": 0.24802242,
"hom_count_reference_population": 51994,
"allele_count_reference_population": 395127,
"gnomad_exomes_af": 0.249014,
"gnomad_genomes_af": 0.238604,
"gnomad_exomes_ac": 358926,
"gnomad_genomes_ac": 36201,
"gnomad_exomes_homalt": 47342,
"gnomad_genomes_homalt": 4652,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0007902383804321289,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.448,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000541284.6",
"gene_symbol": "CNOT4",
"hgnc_id": 7880,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}