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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: 15-84895080-C-CTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=84895080&ref=C&alt=CTG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 84895080,
"ref": "C",
"alt": "CTG",
"effect": "frameshift_variant",
"transcript": "NM_004213.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "NM_004213.5",
"protein_id": "NP_004204.3",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394573.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004213.5"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000394573.6",
"protein_id": "ENSP00000378074.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004213.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394573.6"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000286749.3",
"protein_id": "ENSP00000286749.3",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286749.3"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000338602.6",
"protein_id": "ENSP00000341629.2",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 175,
"cds_start": 420,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338602.6"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "NM_001287762.2",
"protein_id": "NP_001274691.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287762.2"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859184.1",
"protein_id": "ENSP00000529243.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859184.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859185.1",
"protein_id": "ENSP00000529244.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859185.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859188.1",
"protein_id": "ENSP00000529247.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859188.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859189.1",
"protein_id": "ENSP00000529248.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859189.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859196.1",
"protein_id": "ENSP00000529255.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859196.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859197.1",
"protein_id": "ENSP00000529256.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859197.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859198.1",
"protein_id": "ENSP00000529257.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859198.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859199.1",
"protein_id": "ENSP00000529258.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 649,
"cds_start": 420,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859199.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "NM_001321722.2",
"protein_id": "NP_001308651.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 636,
"cds_start": 420,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321722.2"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859183.1",
"protein_id": "ENSP00000529242.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 623,
"cds_start": 420,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859183.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859187.1",
"protein_id": "ENSP00000529246.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 623,
"cds_start": 420,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859187.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859193.1",
"protein_id": "ENSP00000529252.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 623,
"cds_start": 420,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859193.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859194.1",
"protein_id": "ENSP00000529253.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 623,
"cds_start": 420,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859194.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000859190.1",
"protein_id": "ENSP00000529249.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 583,
"cds_start": 420,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859190.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "NM_001321721.2",
"protein_id": "NP_001308650.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 543,
"cds_start": 420,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321721.2"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "NM_001287761.2",
"protein_id": "NP_001274690.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 483,
"cds_start": 420,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287761.2"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs",
"transcript": "ENST00000538177.5",
"protein_id": "ENSP00000443752.1",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 483,
"cds_start": 420,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.123,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004213.5",
"gene_symbol": "SLC28A1",
"hgnc_id": 11001,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.419_420insGT",
"hgvs_p": "p.Lys141fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}