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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: 15-75617462-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75617462&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SNUPN",
"hgnc_id": 14245,
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_005701.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 155833,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005701.4",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308588.10",
"protein_coding": true,
"protein_id": "NP_005692.1",
"strand": false,
"transcript": "NM_005701.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000308588.10",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005701.4",
"protein_coding": true,
"protein_id": "ENSP00000309831.5",
"strand": false,
"transcript": "ENST00000308588.10",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 386,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 300,
"cds_end": null,
"cds_length": 1161,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896168.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566227.1",
"strand": false,
"transcript": "ENST00000896168.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 386,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1161,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934023.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604082.1",
"strand": false,
"transcript": "ENST00000934023.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 386,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1161,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000960224.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630283.1",
"strand": false,
"transcript": "ENST00000960224.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001042581.2",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036046.1",
"strand": false,
"transcript": "NM_001042581.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 321,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001042588.2",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036053.1",
"strand": false,
"transcript": "NM_001042588.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000564644.5",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454852.1",
"strand": false,
"transcript": "ENST00000564644.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 612,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000564675.5",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458053.1",
"strand": false,
"transcript": "ENST00000564675.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": 532,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000567134.5",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456224.1",
"strand": false,
"transcript": "ENST00000567134.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896163.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566222.1",
"strand": false,
"transcript": "ENST00000896163.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896164.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566223.1",
"strand": false,
"transcript": "ENST00000896164.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896170.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566229.1",
"strand": false,
"transcript": "ENST00000896170.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896171.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566230.1",
"strand": false,
"transcript": "ENST00000896171.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896172.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566231.1",
"strand": false,
"transcript": "ENST00000896172.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1453,
"cdna_start": 347,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000934024.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604083.1",
"strand": false,
"transcript": "ENST00000934024.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1618,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000934025.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604084.1",
"strand": false,
"transcript": "ENST00000934025.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000960222.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630281.1",
"strand": false,
"transcript": "ENST00000960222.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 360,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1083,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000960225.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630284.1",
"strand": false,
"transcript": "ENST00000960225.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 338,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": 297,
"cds_end": null,
"cds_length": 1017,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896169.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566228.1",
"strand": false,
"transcript": "ENST00000896169.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 338,
"aa_ref": "D",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1017,
"cds_start": 249,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896174.1",
"gene_hgnc_id": 14245,
"gene_symbol": "SNUPN",
"hgvs_c": "c.249T>C",
"hgvs_p": "p.Asp83Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566233.1",
"strand": false,
"transcript": "ENST00000896174.1",
"transcript_support_level": null
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