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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: 19-45770541-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45770541&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DMPK",
"hgnc_id": 2933,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001288764.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DM1-AS",
"hgnc_id": 53125,
"hgvs_c": "n.337-949C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000590076.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.077,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09217780828475952,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 629,
"aa_ref": "A",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_004409.5",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Ala613Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000291270.9",
"protein_coding": true,
"protein_id": "NP_004400.4",
"strand": false,
"transcript": "NM_004409.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 629,
"aa_ref": "A",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000291270.9",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Ala613Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004409.5",
"protein_coding": true,
"protein_id": "ENSP00000291270.4",
"strand": false,
"transcript": "ENST00000291270.9",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 624,
"aa_ref": "A",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1822,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000447742.6",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1822G>A",
"hgvs_p": "p.Ala608Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413417.1",
"strand": false,
"transcript": "ENST00000447742.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 630,
"aa_ref": "T",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1833,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000343373.10",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1833G>A",
"hgvs_p": "p.Thr611Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345997.4",
"strand": false,
"transcript": "ENST00000343373.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 2034,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001288764.2",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275693.1",
"strand": false,
"transcript": "NM_001288764.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 2008,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000902152.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Ala624Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572211.1",
"strand": false,
"transcript": "ENST00000902152.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 639,
"aa_ref": "A",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5122,
"cdna_start": 4298,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1867,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001081563.3",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1867G>A",
"hgvs_p": "p.Ala623Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001075032.1",
"strand": false,
"transcript": "NM_001081563.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 627,
"aa_ref": "A",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1831,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000902147.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1831G>A",
"hgvs_p": "p.Ala611Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572206.1",
"strand": false,
"transcript": "ENST00000902147.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 624,
"aa_ref": "A",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1822,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001081560.3",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1822G>A",
"hgvs_p": "p.Ala608Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001075029.1",
"strand": false,
"transcript": "NM_001081560.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 622,
"aa_ref": "A",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2773,
"cdna_start": 1952,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1816,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000947414.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1816G>A",
"hgvs_p": "p.Ala606Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617473.1",
"strand": false,
"transcript": "ENST00000947414.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 612,
"aa_ref": "A",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1786,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000902150.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Ala596Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572209.1",
"strand": false,
"transcript": "ENST00000902150.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 607,
"aa_ref": "A",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2733,
"cdna_start": 1909,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1771,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000902149.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1771G>A",
"hgvs_p": "p.Ala591Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572208.1",
"strand": false,
"transcript": "ENST00000902149.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "A",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2709,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001424165.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Ala583Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411094.1",
"strand": false,
"transcript": "NM_001424165.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 599,
"aa_ref": "A",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000902146.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Ala583Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572205.1",
"strand": false,
"transcript": "ENST00000902146.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 594,
"aa_ref": "A",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001424169.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Ala578Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411098.1",
"strand": false,
"transcript": "NM_001424169.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 594,
"aa_ref": "A",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000902145.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Ala578Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572204.1",
"strand": false,
"transcript": "ENST00000902145.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 579,
"aa_ref": "A",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1687,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000902148.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Ala563Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572207.1",
"strand": false,
"transcript": "ENST00000902148.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 574,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1672,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000902151.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Ala558Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572210.1",
"strand": false,
"transcript": "ENST00000902151.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 560,
"aa_ref": "A",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1630,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000947413.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Ala544Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617472.1",
"strand": false,
"transcript": "ENST00000947413.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 549,
"aa_ref": "A",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000947411.1",
"gene_hgnc_id": 2933,
"gene_symbol": "DMPK",
"hgvs_c": "c.1597G>A",
"hgvs_p": "p.Ala533Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617470.1",
"strand": false,
"transcript": "ENST00000947411.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 1711,
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