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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: 1-11027467-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11027467&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MASP2",
"hgnc_id": 6902,
"hgvs_c": "c.1479C>T",
"hgvs_p": "p.Ser493Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_006610.4",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TARDBP",
"hgnc_id": 11571,
"hgvs_c": "n.2508+1802G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "XR_007058560.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 1301047,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": " Dominant,Amyotrophic Lateral Sclerosis,Frontotemporal dementia,Immunodeficiency due to MASP-2 deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 686,
"aa_ref": "S",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1479,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_006610.4",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1479C>T",
"hgvs_p": "p.Ser493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400897.8",
"protein_coding": true,
"protein_id": "NP_006601.2",
"strand": false,
"transcript": "NM_006610.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 686,
"aa_ref": "S",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1479,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000400897.8",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1479C>T",
"hgvs_p": "p.Ser493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006610.4",
"protein_coding": true,
"protein_id": "ENSP00000383690.3",
"strand": false,
"transcript": "ENST00000400897.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "S",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1539,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000860329.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1539C>T",
"hgvs_p": "p.Ser513Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530388.1",
"strand": false,
"transcript": "ENST00000860329.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 679,
"aa_ref": "S",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1458,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000700092.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Ser486Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514791.1",
"strand": false,
"transcript": "ENST00000700092.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 678,
"aa_ref": "S",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2638,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1455,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000700093.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1455C>T",
"hgvs_p": "p.Ser485Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514792.1",
"strand": false,
"transcript": "ENST00000700093.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 661,
"aa_ref": "S",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1404,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860325.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1404C>T",
"hgvs_p": "p.Ser468Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530384.1",
"strand": false,
"transcript": "ENST00000860325.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 651,
"aa_ref": "S",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1374,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000699958.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1374C>T",
"hgvs_p": "p.Ser458Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514717.1",
"strand": false,
"transcript": "ENST00000699958.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 642,
"aa_ref": "S",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1347,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860326.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1347C>T",
"hgvs_p": "p.Ser449Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530385.1",
"strand": false,
"transcript": "ENST00000860326.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 620,
"aa_ref": "S",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1281,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000700091.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1281C>T",
"hgvs_p": "p.Ser427Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514790.1",
"strand": false,
"transcript": "ENST00000700091.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 617,
"aa_ref": "S",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000860327.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Ser424Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530386.1",
"strand": false,
"transcript": "ENST00000860327.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 461,
"aa_ref": "S",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1386,
"cds_start": 804,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000860328.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.804C>T",
"hgvs_p": "p.Ser268Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530387.1",
"strand": false,
"transcript": "ENST00000860328.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000700097.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.*115C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514796.1",
"strand": false,
"transcript": "ENST00000700097.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 492,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": null,
"cds_end": null,
"cds_length": 1479,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700095.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1298-619C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514794.1",
"strand": false,
"transcript": "ENST00000700095.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 471,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": null,
"cds_end": null,
"cds_length": 1416,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700088.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "c.1298-619C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514787.1",
"strand": false,
"transcript": "ENST00000700088.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 60,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 554,
"cdna_start": null,
"cds_end": null,
"cds_length": 183,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000612542.1",
"gene_hgnc_id": 11571,
"gene_symbol": "TARDBP",
"hgvs_c": "c.*22+2259G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478249.1",
"strand": true,
"transcript": "ENST00000612542.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1064,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000699927.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "n.418C>T",
"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": "ENST00000699927.1",
"transcript_support_level": null
},
{
"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": 2659,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000700089.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "n.*477C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514788.1",
"strand": false,
"transcript": "ENST00000700089.1",
"transcript_support_level": null
},
{
"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": 2541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000700090.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "n.*752C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514789.1",
"strand": false,
"transcript": "ENST00000700090.1",
"transcript_support_level": null
},
{
"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": 2670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000700094.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "n.*569C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514793.1",
"strand": false,
"transcript": "ENST00000700094.1",
"transcript_support_level": null
},
{
"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": 2659,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000700089.1",
"gene_hgnc_id": 6902,
"gene_symbol": "MASP2",
"hgvs_c": "n.*477C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514788.1",
"strand": false,
"transcript": "ENST00000700089.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
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