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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: 8-17754449-TT-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17754449&ref=TT&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MTUS1",
"hgnc_id": 29789,
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001363057.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000301996",
"hgnc_id": null,
"hgvs_c": "n.145-9347_145-9346delTTinsAG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000783280.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"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": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6125,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363059.2",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000693296.1",
"protein_coding": true,
"protein_id": "NP_001349988.1",
"strand": false,
"transcript": "NM_001363059.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6125,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000693296.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001363059.2",
"protein_coding": true,
"protein_id": "ENSP00000509719.1",
"strand": false,
"transcript": "ENST00000693296.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6160,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262102.10",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262102.6",
"strand": false,
"transcript": "ENST00000262102.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5205,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000520196.5",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "n.560_561delAAinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431016.1",
"strand": false,
"transcript": "ENST00000520196.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3354,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000523718.5",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "n.1832_1833delAAinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000523718.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1282,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6121,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 3849,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363057.2",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349986.1",
"strand": false,
"transcript": "NM_001363057.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6411,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001001924.3",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001924.1",
"strand": false,
"transcript": "NM_001001924.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6183,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363058.2",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349987.1",
"strand": false,
"transcript": "NM_001363058.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6152,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363061.2",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349990.1",
"strand": false,
"transcript": "NM_001363061.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6479,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855900.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525959.1",
"strand": false,
"transcript": "ENST00000855900.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6457,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855902.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525961.1",
"strand": false,
"transcript": "ENST00000855902.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6503,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855903.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525962.1",
"strand": false,
"transcript": "ENST00000855903.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6174,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917856.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587915.1",
"strand": false,
"transcript": "ENST00000917856.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6341,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960149.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630208.1",
"strand": false,
"transcript": "ENST00000960149.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6356,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960150.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630209.1",
"strand": false,
"transcript": "ENST00000960150.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6230,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960151.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630210.1",
"strand": false,
"transcript": "ENST00000960151.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6446,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960152.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630211.1",
"strand": false,
"transcript": "ENST00000960152.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6203,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960155.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630214.1",
"strand": false,
"transcript": "ENST00000960155.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6254,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 3696,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960154.1",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630213.1",
"strand": false,
"transcript": "ENST00000960154.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1228,
"aa_ref": "K",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5959,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 3687,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363060.2",
"gene_hgnc_id": 29789,
"gene_symbol": "MTUS1",
"hgvs_c": "c.1358_1359delAAinsCT",
"hgvs_p": "p.Lys453Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349989.1",
"strand": false,
"transcript": "NM_001363060.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1226,
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