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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: 9-4118048-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=4118048&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 4118048,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001042413.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Ala477Gly",
"transcript": "NM_001042413.2",
"protein_id": "NP_001035878.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 930,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381971.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042413.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Ala477Gly",
"transcript": "ENST00000381971.8",
"protein_id": "ENSP00000371398.3",
"transcript_support_level": 5,
"aa_start": 477,
"aa_end": null,
"aa_length": 930,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042413.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381971.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Ala322Gly",
"transcript": "ENST00000324333.14",
"protein_id": "ENSP00000325494.10",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 775,
"cds_start": 965,
"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": "ENST00000324333.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.*793C>G",
"hgvs_p": null,
"transcript": "ENST00000491889.6",
"protein_id": "ENSP00000419914.1",
"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": "ENST00000491889.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.*793C>G",
"hgvs_p": null,
"transcript": "ENST00000491889.6",
"protein_id": "ENSP00000419914.1",
"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": "ENST00000491889.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Ala477Gly",
"transcript": "NM_001438906.1",
"protein_id": "NP_001425835.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 930,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438906.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Ala477Gly",
"transcript": "NM_001438907.1",
"protein_id": "NP_001425836.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 930,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438907.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Ala477Gly",
"transcript": "NM_001438908.1",
"protein_id": "NP_001425837.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 930,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438908.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Ala322Gly",
"transcript": "NM_001438909.1",
"protein_id": "NP_001425838.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 775,
"cds_start": 965,
"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": "NM_001438909.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Ala322Gly",
"transcript": "NM_152629.4",
"protein_id": "NP_689842.3",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 775,
"cds_start": 965,
"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": "NM_152629.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Ala322Gly",
"transcript": "ENST00000682749.1",
"protein_id": "ENSP00000507306.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 775,
"cds_start": 965,
"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": "ENST00000682749.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Ala255Gly",
"transcript": "NM_001438911.1",
"protein_id": "NP_001425840.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 708,
"cds_start": 764,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438911.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Ala255Gly",
"transcript": "NM_001438912.1",
"protein_id": "NP_001425841.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 708,
"cds_start": 764,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438912.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Ala477Gly",
"transcript": "NM_001438913.1",
"protein_id": "NP_001425842.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 591,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438913.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Ala477Gly",
"transcript": "NM_001438914.1",
"protein_id": "NP_001425843.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 572,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438914.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Ala322Gly",
"transcript": "NM_001438915.1",
"protein_id": "NP_001425844.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 436,
"cds_start": 965,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438915.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.764C>G",
"hgvs_p": "p.Ala255Gly",
"transcript": "NM_001438916.1",
"protein_id": "NP_001425845.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 350,
"cds_start": 764,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438916.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Ala477Gly",
"transcript": "XM_011517763.3",
"protein_id": "XP_011516065.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 930,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517763.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1175C>G",
"hgvs_p": "p.Ala392Gly",
"transcript": "XM_047422890.1",
"protein_id": "XP_047278846.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 845,
"cds_start": 1175,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422890.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Ala322Gly",
"transcript": "XM_011517766.3",
"protein_id": "XP_011516068.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 775,
"cds_start": 965,
"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": "XM_011517766.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Ala322Gly",
"transcript": "XM_017014361.2",
"protein_id": "XP_016869850.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 775,
"cds_start": 965,
"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": "XM_017014361.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Ala477Gly",
"transcript": "XM_047422891.1",
"protein_id": "XP_047278847.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 591,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR,Unknown",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}