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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: 6-35869652-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35869652&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35869652,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003137.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Cys414Ser",
"transcript": "NM_003137.5",
"protein_id": "NP_003128.3",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 655,
"cds_start": 1241,
"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": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Cys414Ser",
"transcript": "ENST00000373825.7",
"protein_id": "ENSP00000362931.2",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 655,
"cds_start": 1241,
"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": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1289G>C",
"hgvs_p": "p.Cys430Ser",
"transcript": "ENST00000361690.7",
"protein_id": "ENSP00000354674.3",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 671,
"cds_start": 1289,
"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": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Cys398Ser",
"transcript": "ENST00000423325.6",
"protein_id": "ENSP00000391069.2",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 639,
"cds_start": 1193,
"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": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1238G>C",
"hgvs_p": "p.Cys413Ser",
"transcript": "ENST00000876562.1",
"protein_id": "ENSP00000546621.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 654,
"cds_start": 1238,
"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": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Cys414Ser",
"transcript": "ENST00000926028.1",
"protein_id": "ENSP00000596087.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 654,
"cds_start": 1241,
"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": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Cys414Ser",
"transcript": "ENST00000926029.1",
"protein_id": "ENSP00000596088.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 648,
"cds_start": 1241,
"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": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Cys414Ser",
"transcript": "ENST00000876560.1",
"protein_id": "ENSP00000546619.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 624,
"cds_start": 1241,
"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": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Cys414Ser",
"transcript": "ENST00000876563.1",
"protein_id": "ENSP00000546622.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 619,
"cds_start": 1241,
"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": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1046G>C",
"hgvs_p": "p.Cys349Ser",
"transcript": "ENST00000876561.1",
"protein_id": "ENSP00000546620.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 590,
"cds_start": 1046,
"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": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Cys414Ser",
"transcript": "ENST00000952658.1",
"protein_id": "ENSP00000622717.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 588,
"cds_start": 1241,
"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": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.1046G>C",
"hgvs_p": "p.Cys349Ser",
"transcript": "ENST00000952659.1",
"protein_id": "ENSP00000622718.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 554,
"cds_start": 1046,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.391-12284G>C",
"hgvs_p": null,
"transcript": "ENST00000926030.1",
"protein_id": "ENSP00000596089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": null,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "n.1765G>C",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "n.307G>C",
"hgvs_p": null,
"transcript": "ENST00000502969.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000502969.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "n.1311G>C",
"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": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "c.*15G>C",
"hgvs_p": null,
"transcript": "ENST00000510290.5",
"protein_id": "ENSP00000424170.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
"cds_end": null,
"cds_length": 440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510290.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"hgvs_c": "n.-101G>C",
"hgvs_p": null,
"transcript": "ENST00000507292.1",
"protein_id": "ENSP00000422886.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000507292.1"
}
],
"gene_symbol": "SRPK1",
"gene_hgnc_id": 11305,
"dbsnp": "rs376417169",
"frequency_reference_population": 0.00006939892,
"hom_count_reference_population": 0,
"allele_count_reference_population": 112,
"gnomad_exomes_af": 0.0000677297,
"gnomad_genomes_af": 0.000085433,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04443848133087158,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.0688,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.262,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003137.5",
"gene_symbol": "SRPK1",
"hgnc_id": 11305,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Cys414Ser"
}
],
"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
}