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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: 7-135362941-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=135362941&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 135362941,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001190850.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.2086C>A",
"hgvs_p": "p.Pro696Thr",
"transcript": "NM_001190850.2",
"protein_id": "NP_001177779.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 713,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": "ENST00000541284.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190850.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.2086C>A",
"hgvs_p": "p.Pro696Thr",
"transcript": "ENST00000541284.6",
"protein_id": "ENSP00000445508.1",
"transcript_support_level": 5,
"aa_start": 696,
"aa_end": null,
"aa_length": 713,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": "NM_001190850.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541284.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1873C>A",
"hgvs_p": "p.Pro625Thr",
"transcript": "ENST00000423368.6",
"protein_id": "ENSP00000406777.2",
"transcript_support_level": 1,
"aa_start": 625,
"aa_end": null,
"aa_length": 642,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423368.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1864C>A",
"hgvs_p": "p.Pro622Thr",
"transcript": "ENST00000361528.8",
"protein_id": "ENSP00000354673.4",
"transcript_support_level": 1,
"aa_start": 622,
"aa_end": null,
"aa_length": 639,
"cds_start": 1864,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361528.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.2086C>A",
"hgvs_p": "p.Pro696Thr",
"transcript": "NM_001393370.1",
"protein_id": "NP_001380299.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 713,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393370.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.2077C>A",
"hgvs_p": "p.Pro693Thr",
"transcript": "NM_001190849.2",
"protein_id": "NP_001177778.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 710,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190849.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.2077C>A",
"hgvs_p": "p.Pro693Thr",
"transcript": "ENST00000451834.5",
"protein_id": "ENSP00000388491.1",
"transcript_support_level": 2,
"aa_start": 693,
"aa_end": null,
"aa_length": 710,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451834.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.2011C>A",
"hgvs_p": "p.Pro671Thr",
"transcript": "NM_001393371.1",
"protein_id": "NP_001380300.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 688,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393371.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1999C>A",
"hgvs_p": "p.Pro667Thr",
"transcript": "ENST00000870230.1",
"protein_id": "ENSP00000540289.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 684,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2313,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870230.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1975C>A",
"hgvs_p": "p.Pro659Thr",
"transcript": "NM_001393372.1",
"protein_id": "NP_001380301.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 676,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393372.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1888C>A",
"hgvs_p": "p.Pro630Thr",
"transcript": "NM_001393373.1",
"protein_id": "NP_001380302.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 647,
"cds_start": 1888,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393373.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1873C>A",
"hgvs_p": "p.Pro625Thr",
"transcript": "NM_001190847.2",
"protein_id": "NP_001177776.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 642,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190847.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1864C>A",
"hgvs_p": "p.Pro622Thr",
"transcript": "NM_001393374.1",
"protein_id": "NP_001380303.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 639,
"cds_start": 1864,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393374.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1864C>A",
"hgvs_p": "p.Pro622Thr",
"transcript": "NM_013316.4",
"protein_id": "NP_037448.2",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 639,
"cds_start": 1864,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013316.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1864C>A",
"hgvs_p": "p.Pro622Thr",
"transcript": "ENST00000912981.1",
"protein_id": "ENSP00000583040.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 639,
"cds_start": 1864,
"cds_end": null,
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"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912981.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1762C>A",
"hgvs_p": "p.Pro588Thr",
"transcript": "NM_001393375.1",
"protein_id": "NP_001380304.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 605,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393375.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.2077C>A",
"hgvs_p": "p.Pro693Thr",
"transcript": "XM_047420412.1",
"protein_id": "XP_047276368.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 710,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420412.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.1873C>A",
"hgvs_p": "p.Pro625Thr",
"transcript": "XM_047420413.1",
"protein_id": "XP_047276369.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 642,
"cds_start": 1873,
"cds_end": null,
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"cdna_start": 2052,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420413.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "c.*291C>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": null,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707062.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "n.*58C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000473470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"hgvs_c": "n.*1498C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000707063.1"
}
],
"gene_symbol": "CNOT4",
"gene_hgnc_id": 7880,
"dbsnp": "rs201606362",
"frequency_reference_population": 0.000013021447,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136873,
"gnomad_genomes_af": 0.00000659988,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35379558801651,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.1483,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.802,
"phylop100way_prediction": "Pathogenic",
"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_001190850.2",
"gene_symbol": "CNOT4",
"hgnc_id": 7880,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2086C>A",
"hgvs_p": "p.Pro696Thr"
}
],
"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
}