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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: 19-48135713-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48135713&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48135713,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000234.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Glu497Gly",
"transcript": "NM_000234.3",
"protein_id": "NP_000225.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 919,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263274.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000234.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Glu497Gly",
"transcript": "ENST00000263274.12",
"protein_id": "ENSP00000263274.6",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 919,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000234.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263274.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.1487A>G",
"hgvs_p": null,
"transcript": "ENST00000594759.5",
"protein_id": "ENSP00000471380.1",
"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": "ENST00000594759.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1592A>G",
"hgvs_p": "p.Glu531Gly",
"transcript": "ENST00000916675.1",
"protein_id": "ENSP00000586734.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 953,
"cds_start": 1592,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916675.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Glu497Gly",
"transcript": "ENST00000699868.1",
"protein_id": "ENSP00000514664.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 919,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699868.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Glu497Gly",
"transcript": "ENST00000884164.1",
"protein_id": "ENSP00000554222.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 919,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884164.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Glu497Gly",
"transcript": "ENST00000916664.1",
"protein_id": "ENSP00000586723.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 919,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916664.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.Glu496Gly",
"transcript": "NM_001320970.2",
"protein_id": "NP_001307899.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 918,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320970.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.Glu496Gly",
"transcript": "ENST00000699866.1",
"protein_id": "ENSP00000514663.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 918,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699866.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.Glu496Gly",
"transcript": "ENST00000699875.1",
"protein_id": "ENSP00000514671.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 918,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699875.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Glu497Gly",
"transcript": "ENST00000916667.1",
"protein_id": "ENSP00000586726.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 918,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916667.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.Glu496Gly",
"transcript": "ENST00000916672.1",
"protein_id": "ENSP00000586731.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 918,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916672.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.Glu496Gly",
"transcript": "ENST00000968338.1",
"protein_id": "ENSP00000638397.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 918,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968338.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.Glu496Gly",
"transcript": "ENST00000968339.1",
"protein_id": "ENSP00000638398.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 918,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968339.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Glu495Gly",
"transcript": "ENST00000884159.1",
"protein_id": "ENSP00000554218.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 917,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884159.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Glu495Gly",
"transcript": "ENST00000916666.1",
"protein_id": "ENSP00000586725.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 917,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916666.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Glu497Gly",
"transcript": "ENST00000916674.1",
"protein_id": "ENSP00000586733.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 917,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916674.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Glu494Gly",
"transcript": "ENST00000884161.1",
"protein_id": "ENSP00000554220.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 916,
"cds_start": 1481,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884161.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Glu497Gly",
"transcript": "ENST00000884160.1",
"protein_id": "ENSP00000554219.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 901,
"cds_start": 1490,
"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": "ENST00000884160.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Glu497Gly",
"transcript": "ENST00000916679.1",
"protein_id": "ENSP00000586738.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 901,
"cds_start": 1490,
"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": "ENST00000916679.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1400A>G",
"hgvs_p": "p.Glu467Gly",
"transcript": "NM_001320971.2",
"protein_id": "NP_001307900.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 889,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320971.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1400A>G",
"hgvs_p": "p.Glu467Gly",
"transcript": "ENST00000699874.1",
"protein_id": "ENSP00000514670.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 889,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
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"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.59,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_000234.3",
"gene_symbol": "LIG1",
"hgnc_id": 6598,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1490A>G",
"hgvs_p": "p.Glu497Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}