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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: 15-84933212-T-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=84933212&ref=T&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "SLC28A1",
"hgnc_id": 11001,
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_004213.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_004213.5",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394573.6",
"protein_coding": true,
"protein_id": "NP_004204.3",
"strand": true,
"transcript": "NM_004213.5",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000394573.6",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004213.5",
"protein_coding": true,
"protein_id": "ENSP00000378074.1",
"strand": true,
"transcript": "ENST00000394573.6",
"transcript_support_level": 1
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000286749.3",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000286749.3",
"strand": true,
"transcript": "ENST00000286749.3",
"transcript_support_level": 1
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001287762.2",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274691.1",
"strand": true,
"transcript": "NM_001287762.2",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2894,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000859184.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529243.1",
"strand": true,
"transcript": "ENST00000859184.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000859185.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529244.1",
"strand": true,
"transcript": "ENST00000859185.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000859188.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529247.1",
"strand": true,
"transcript": "ENST00000859188.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000859189.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529248.1",
"strand": true,
"transcript": "ENST00000859189.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000859196.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529255.1",
"strand": true,
"transcript": "ENST00000859196.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4060,
"cdna_start": 2671,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859197.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529256.1",
"strand": true,
"transcript": "ENST00000859197.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859198.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529257.1",
"strand": true,
"transcript": "ENST00000859198.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859199.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529258.1",
"strand": true,
"transcript": "ENST00000859199.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 636,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001321722.2",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308651.1",
"strand": true,
"transcript": "NM_001321722.2",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 623,
"aa_ref": "V",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1076,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859183.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1075dupG",
"hgvs_p": "p.Val359fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529242.1",
"strand": true,
"transcript": "ENST00000859183.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 623,
"aa_ref": "V",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2794,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1076,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859187.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1075dupG",
"hgvs_p": "p.Val359fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529246.1",
"strand": true,
"transcript": "ENST00000859187.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 623,
"aa_ref": "V",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1076,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000859193.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1075dupG",
"hgvs_p": "p.Val359fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529252.1",
"strand": true,
"transcript": "ENST00000859193.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 623,
"aa_ref": "V",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1076,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000859194.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1075dupG",
"hgvs_p": "p.Val359fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529253.1",
"strand": true,
"transcript": "ENST00000859194.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 583,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2470,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859190.1",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529249.1",
"strand": true,
"transcript": "ENST00000859190.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 543,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001321721.2",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308650.1",
"strand": true,
"transcript": "NM_001321721.2",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 692,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011522203.3",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520505.1",
"strand": true,
"transcript": "XM_011522203.3",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 692,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 1577,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1154,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011522204.4",
"gene_hgnc_id": 11001,
"gene_symbol": "SLC28A1",
"hgvs_c": "c.1153dupG",
"hgvs_p": "p.Val385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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