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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: 11-123577386-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=123577386&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 123577386,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001387024.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Arg158Gly",
"transcript": "NM_001387025.1",
"protein_id": "NP_001373954.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 877,
"cds_start": 472,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000635736.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387025.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Arg158Gly",
"transcript": "ENST00000635736.2",
"protein_id": "ENSP00000490062.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 877,
"cds_start": 472,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387025.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635736.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.43C>G",
"hgvs_p": "p.Arg15Gly",
"transcript": "ENST00000529750.5",
"protein_id": "ENSP00000436500.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 738,
"cds_start": 43,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529750.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.31C>G",
"hgvs_p": "p.Arg11Gly",
"transcript": "ENST00000534764.1",
"protein_id": "ENSP00000434214.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 440,
"cds_start": 31,
"cds_end": null,
"cds_length": 1324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534764.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Arg158Gly",
"transcript": "NM_001387024.1",
"protein_id": "NP_001373953.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 901,
"cds_start": 472,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387024.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Arg158Gly",
"transcript": "ENST00000943465.1",
"protein_id": "ENSP00000613524.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 887,
"cds_start": 472,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943465.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Arg158Gly",
"transcript": "ENST00000943464.1",
"protein_id": "ENSP00000613523.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 885,
"cds_start": 472,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943464.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Arg158Gly",
"transcript": "ENST00000943461.1",
"protein_id": "ENSP00000613520.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 877,
"cds_start": 472,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943461.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Arg158Gly",
"transcript": "ENST00000943462.1",
"protein_id": "ENSP00000613521.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 877,
"cds_start": 472,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943462.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Arg158Gly",
"transcript": "ENST00000943463.1",
"protein_id": "ENSP00000613522.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 877,
"cds_start": 472,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943463.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.469C>G",
"hgvs_p": "p.Arg157Gly",
"transcript": "NM_001387026.1",
"protein_id": "NP_001373955.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 876,
"cds_start": 469,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387026.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.340C>G",
"hgvs_p": "p.Arg114Gly",
"transcript": "NM_001367421.2",
"protein_id": "NP_001354350.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 833,
"cds_start": 340,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367421.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.124C>G",
"hgvs_p": "p.Arg42Gly",
"transcript": "NM_001367420.2",
"protein_id": "NP_001354349.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 789,
"cds_start": 124,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367420.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Arg44Gly",
"transcript": "ENST00000638086.1",
"protein_id": "ENSP00000490920.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 767,
"cds_start": 130,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638086.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.124C>G",
"hgvs_p": "p.Arg42Gly",
"transcript": "NM_001367419.2",
"protein_id": "NP_001354348.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 765,
"cds_start": 124,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367419.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.43C>G",
"hgvs_p": "p.Arg15Gly",
"transcript": "NM_001387028.1",
"protein_id": "NP_001373957.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 762,
"cds_start": 43,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387028.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.124C>G",
"hgvs_p": "p.Arg42Gly",
"transcript": "NM_001367418.2",
"protein_id": "NP_001354347.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 761,
"cds_start": 124,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367418.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.43C>G",
"hgvs_p": "p.Arg15Gly",
"transcript": "NM_001286563.3",
"protein_id": "NP_001273492.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 745,
"cds_start": 43,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286563.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.43C>G",
"hgvs_p": "p.Arg15Gly",
"transcript": "ENST00000456860.6",
"protein_id": "ENSP00000402457.2",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 745,
"cds_start": 43,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456860.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.43C>G",
"hgvs_p": "p.Arg15Gly",
"transcript": "NM_020716.4",
"protein_id": "NP_065767.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 738,
"cds_start": 43,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020716.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.43C>G",
"hgvs_p": "p.Arg15Gly",
"transcript": "NM_001387029.1",
"protein_id": "NP_001373958.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 734,
"cds_start": 43,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387029.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD1B",
"gene_hgnc_id": 29214,
"hgvs_c": "c.112C>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "ENST00000633087.1",
"protein_id": "ENSP00000488613.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 170,
"cds_start": 112,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.26,
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"phylop100way_prediction": "Uncertain_significance",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001387024.1",
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"effects": [
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],
"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
}