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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: 6-35835336-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35835336&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SRPK1",
"hgnc_id": 11305,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Glu646Lys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_003137.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "LHFPL5",
"hgnc_id": 21253,
"hgvs_c": "c.*1743C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000652718.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.3604,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3248618543148041,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 655,
"aa_ref": "E",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4348,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1936,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_003137.5",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Glu646Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373825.7",
"protein_coding": true,
"protein_id": "NP_003128.3",
"strand": false,
"transcript": "NM_003137.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 655,
"aa_ref": "E",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4348,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1936,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000373825.7",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Glu646Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003137.5",
"protein_coding": true,
"protein_id": "ENSP00000362931.2",
"strand": false,
"transcript": "ENST00000373825.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 671,
"aa_ref": "E",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4286,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1984,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000361690.7",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1984G>A",
"hgvs_p": "p.Glu662Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354674.3",
"strand": false,
"transcript": "ENST00000361690.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 639,
"aa_ref": "E",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4357,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1888,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000423325.6",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1888G>A",
"hgvs_p": "p.Glu630Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391069.2",
"strand": false,
"transcript": "ENST00000423325.6",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 654,
"aa_ref": "E",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4275,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1933,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000876562.1",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Glu645Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546621.1",
"strand": false,
"transcript": "ENST00000876562.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 654,
"aa_ref": "E",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1933,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000926028.1",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Glu645Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596087.1",
"strand": false,
"transcript": "ENST00000926028.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 648,
"aa_ref": "E",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000926029.1",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Glu639Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596088.1",
"strand": false,
"transcript": "ENST00000926029.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 624,
"aa_ref": "E",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4253,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1843,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876560.1",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Glu615Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546619.1",
"strand": false,
"transcript": "ENST00000876560.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 619,
"aa_ref": "E",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 1867,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1828,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876563.1",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1828G>A",
"hgvs_p": "p.Glu610Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546622.1",
"strand": false,
"transcript": "ENST00000876563.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 590,
"aa_ref": "E",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4085,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000876561.1",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Glu581Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546620.1",
"strand": false,
"transcript": "ENST00000876561.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 588,
"aa_ref": "E",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 1767,
"cds_start": 1735,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000952658.1",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1735G>A",
"hgvs_p": "p.Glu579Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622717.1",
"strand": false,
"transcript": "ENST00000952658.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 554,
"aa_ref": "E",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1633,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000952659.1",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Glu545Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622718.1",
"strand": false,
"transcript": "ENST00000952659.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 281,
"aa_ref": "E",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1225,
"cdna_start": 872,
"cds_end": null,
"cds_length": 846,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926030.1",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Glu272Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596089.1",
"strand": false,
"transcript": "ENST00000926030.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 163,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4028,
"cdna_start": null,
"cds_end": null,
"cds_length": 492,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000652718.1",
"gene_hgnc_id": 21253,
"gene_symbol": "LHFPL5",
"hgvs_c": "c.*1743C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498866.1",
"strand": true,
"transcript": "ENST00000652718.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 219,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": null,
"cds_end": null,
"cds_length": 660,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651676.1",
"gene_hgnc_id": 21253,
"gene_symbol": "LHFPL5",
"hgvs_c": "c.*17-8860C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498699.1",
"strand": true,
"transcript": "ENST00000651676.1",
"transcript_support_level": null
},
{
"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": 4762,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000346162.10",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "n.2460G>A",
"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": "ENST00000346162.10",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NR_034069.2",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "n.2006G>A",
"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": "NR_034069.2",
"transcript_support_level": null
},
{
"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": 566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505885.1",
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"hgvs_c": "n.*92G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000505885.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs537927603",
"effect": "missense_variant",
"frequency_reference_population": 0.000008676456,
"gene_hgnc_id": 11305,
"gene_symbol": "SRPK1",
"gnomad_exomes_ac": 9,
"gnomad_exomes_af": 0.00000615833,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328671,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.1,
"pos": 35835336,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.136,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003137.5"
}
]
}