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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: 6-35835308-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35835308&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35835308,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003137.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1964C>T",
"hgvs_p": "p.Ser655Phe",
"transcript": "NM_003137.5",
"protein_id": "NP_003128.3",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 655,
"cds_start": 1964,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373825.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003137.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1964C>T",
"hgvs_p": "p.Ser655Phe",
"transcript": "ENST00000373825.7",
"protein_id": "ENSP00000362931.2",
"transcript_support_level": 1,
"aa_start": 655,
"aa_end": null,
"aa_length": 655,
"cds_start": 1964,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003137.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373825.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.2012C>T",
"hgvs_p": "p.Ser671Phe",
"transcript": "ENST00000361690.7",
"protein_id": "ENSP00000354674.3",
"transcript_support_level": 1,
"aa_start": 671,
"aa_end": null,
"aa_length": 671,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361690.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1916C>T",
"hgvs_p": "p.Ser639Phe",
"transcript": "ENST00000423325.6",
"protein_id": "ENSP00000391069.2",
"transcript_support_level": 2,
"aa_start": 639,
"aa_end": null,
"aa_length": 639,
"cds_start": 1916,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423325.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ser654Phe",
"transcript": "ENST00000876562.1",
"protein_id": "ENSP00000546621.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 654,
"cds_start": 1961,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876562.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1961C>T",
"hgvs_p": "p.Ser654Phe",
"transcript": "ENST00000926028.1",
"protein_id": "ENSP00000596087.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 654,
"cds_start": 1961,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926028.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1943C>T",
"hgvs_p": "p.Ser648Phe",
"transcript": "ENST00000926029.1",
"protein_id": "ENSP00000596088.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 648,
"cds_start": 1943,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926029.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1871C>T",
"hgvs_p": "p.Ser624Phe",
"transcript": "ENST00000876560.1",
"protein_id": "ENSP00000546619.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 624,
"cds_start": 1871,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876560.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ser619Phe",
"transcript": "ENST00000876563.1",
"protein_id": "ENSP00000546622.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 619,
"cds_start": 1856,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876563.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1769C>T",
"hgvs_p": "p.Ser590Phe",
"transcript": "ENST00000876561.1",
"protein_id": "ENSP00000546620.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 590,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876561.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Ser588Phe",
"transcript": "ENST00000952658.1",
"protein_id": "ENSP00000622717.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 588,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952658.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1661C>T",
"hgvs_p": "p.Ser554Phe",
"transcript": "ENST00000952659.1",
"protein_id": "ENSP00000622718.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 554,
"cds_start": 1661,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952659.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ser281Phe",
"transcript": "ENST00000926030.1",
"protein_id": "ENSP00000596089.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 281,
"cds_start": 842,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL5",
"gene_hgnc_id": 21253,
"hgvs_c": "c.*1715G>A",
"hgvs_p": null,
"transcript": "ENST00000652718.1",
"protein_id": "ENSP00000498866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652718.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LHFPL5",
"gene_hgnc_id": 21253,
"hgvs_c": "c.*17-8888G>A",
"hgvs_p": null,
"transcript": "ENST00000651676.1",
"protein_id": "ENSP00000498699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651676.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "n.2488C>T",
"hgvs_p": null,
"transcript": "ENST00000346162.10",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000346162.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "n.2034C>T",
"hgvs_p": null,
"transcript": "NR_034069.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_034069.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "n.*120C>T",
"hgvs_p": null,
"transcript": "ENST00000505885.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505885.1"
}
],
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"dbsnp": null,
"frequency_reference_population": 6.845489e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84549e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.355997234582901,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.4083,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.367,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003137.5",
"gene_symbol": "SRPK1",
"hgnc_id": 11305,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1964C>T",
"hgvs_p": "p.Ser655Phe"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000652718.1",
"gene_symbol": "LHFPL5",
"hgnc_id": 21253,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1715G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}