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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: 4-88097565-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=88097565&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 88097565,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004827.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "NM_004827.3",
"protein_id": "NP_004818.2",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "ENST00000237612.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004827.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000237612.8",
"protein_id": "ENSP00000237612.3",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "NM_004827.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237612.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000515655.5",
"protein_id": "ENSP00000426917.1",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 611,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515655.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1622C>G",
"hgvs_p": "p.Thr541Ser",
"transcript": "ENST00000889086.1",
"protein_id": "ENSP00000559145.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 684,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889086.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "NM_001348985.1",
"protein_id": "NP_001335914.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348985.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "NM_001348986.2",
"protein_id": "NP_001335915.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348986.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "NM_001348988.1",
"protein_id": "NP_001335917.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 4625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348988.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "NM_001348989.2",
"protein_id": "NP_001335918.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348989.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000650821.1",
"protein_id": "ENSP00000498246.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650821.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889078.1",
"protein_id": "ENSP00000559137.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889078.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889080.1",
"protein_id": "ENSP00000559139.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889080.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889081.1",
"protein_id": "ENSP00000559140.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2172,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889081.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889082.1",
"protein_id": "ENSP00000559141.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2462,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889082.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889084.1",
"protein_id": "ENSP00000559143.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889084.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889087.1",
"protein_id": "ENSP00000559146.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889087.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889088.1",
"protein_id": "ENSP00000559147.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889088.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889089.1",
"protein_id": "ENSP00000559148.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889089.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889091.1",
"protein_id": "ENSP00000559150.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
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"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889091.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889093.1",
"protein_id": "ENSP00000559152.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889093.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889096.1",
"protein_id": "ENSP00000559155.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
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"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889096.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889098.1",
"protein_id": "ENSP00000559157.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889098.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCG2",
"gene_hgnc_id": 74,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser",
"transcript": "ENST00000889099.1",
"protein_id": "ENSP00000559158.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 655,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1801,
"cdna_end": null,
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"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.1366,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.39,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004827.3",
"gene_symbol": "ABCG2",
"hgnc_id": 74,
"effects": [
"missense_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Thr512Ser"
}
],
"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
}