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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: 3-32734849-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=32734849&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 32734849,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001256742.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "NM_015442.3",
"protein_id": "NP_056257.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 744,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328834.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015442.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "ENST00000328834.10",
"protein_id": "ENSP00000330060.5",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 744,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015442.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328834.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "ENST00000331889.10",
"protein_id": "ENSP00000329376.6",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 717,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331889.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "n.1225A>G",
"hgvs_p": null,
"transcript": "ENST00000435630.5",
"protein_id": "ENSP00000402795.1",
"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": "ENST00000435630.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1567A>G",
"hgvs_p": "p.Ile523Val",
"transcript": "NM_001256742.2",
"protein_id": "NP_001243671.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 804,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256742.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1567A>G",
"hgvs_p": "p.Ile523Val",
"transcript": "ENST00000454516.7",
"protein_id": "ENSP00000399862.2",
"transcript_support_level": 2,
"aa_start": 523,
"aa_end": null,
"aa_length": 804,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454516.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Ile496Val",
"transcript": "ENST00000866042.1",
"protein_id": "ENSP00000536101.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 777,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866042.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Ile494Val",
"transcript": "ENST00000866044.1",
"protein_id": "ENSP00000536103.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 775,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866044.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1480A>G",
"hgvs_p": "p.Ile494Val",
"transcript": "ENST00000969499.1",
"protein_id": "ENSP00000639558.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 775,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969499.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "NM_001393366.1",
"protein_id": "NP_001380295.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 743,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393366.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1384A>G",
"hgvs_p": "p.Ile462Val",
"transcript": "ENST00000866040.1",
"protein_id": "ENSP00000536099.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 743,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866040.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "ENST00000866041.1",
"protein_id": "ENSP00000536100.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 743,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866041.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1384A>G",
"hgvs_p": "p.Ile462Val",
"transcript": "ENST00000933342.1",
"protein_id": "ENSP00000603401.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 742,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933342.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1354A>G",
"hgvs_p": "p.Ile452Val",
"transcript": "ENST00000933346.1",
"protein_id": "ENSP00000603405.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 733,
"cds_start": 1354,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933346.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "NM_001393367.1",
"protein_id": "NP_001380296.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 732,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393367.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "ENST00000866038.1",
"protein_id": "ENSP00000536097.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 732,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866038.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "NM_001393368.1",
"protein_id": "NP_001380297.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 731,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393368.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1348A>G",
"hgvs_p": "p.Ile450Val",
"transcript": "ENST00000866047.1",
"protein_id": "ENSP00000536106.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 731,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866047.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1384A>G",
"hgvs_p": "p.Ile462Val",
"transcript": "ENST00000969500.1",
"protein_id": "ENSP00000639559.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 731,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969500.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "ENST00000969501.1",
"protein_id": "ENSP00000639560.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 731,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969501.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Ile439Val",
"transcript": "ENST00000866051.1",
"protein_id": "ENSP00000536110.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 720,
"cds_start": 1315,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866051.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT10",
"gene_hgnc_id": 23817,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "NM_001256741.2",
"protein_id": "NP_001243670.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 717,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2154,
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],
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"dbsnp": "rs199606164",
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"computational_score_selected": 0.4050760865211487,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001256742.2",
"gene_symbol": "CNOT10",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000475395.2",
"gene_symbol": "CNOT10-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"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
}