← Back to variant description
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: X-38149868-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=38149868&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 38149868,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000378533.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Ser413Phe",
"transcript": "NM_006307.5",
"protein_id": "NP_006298.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 464,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": "ENST00000378533.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Ser413Phe",
"transcript": "ENST00000378533.4",
"protein_id": "ENSP00000367794.3",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 464,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": "NM_006307.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250349",
"gene_hgnc_id": null,
"hgvs_c": "c.172-516253G>A",
"hgvs_p": null,
"transcript": "ENST00000465127.1",
"protein_id": "ENSP00000417050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": -4,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Ser393Phe",
"transcript": "NM_001170750.2",
"protein_id": "NP_001164221.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 444,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Ser393Phe",
"transcript": "ENST00000544439.5",
"protein_id": "ENSP00000440758.1",
"transcript_support_level": 2,
"aa_start": 393,
"aa_end": null,
"aa_length": 444,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ser354Phe",
"transcript": "NM_001170751.2",
"protein_id": "NP_001164222.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 405,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ser354Phe",
"transcript": "ENST00000432886.6",
"protein_id": "ENSP00000411165.2",
"transcript_support_level": 2,
"aa_start": 354,
"aa_end": null,
"aa_length": 405,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "c.1116C>T",
"hgvs_p": "p.Leu372Leu",
"transcript": "NM_001170752.2",
"protein_id": "NP_001164223.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 379,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "c.1116C>T",
"hgvs_p": "p.Leu372Leu",
"transcript": "ENST00000538295.5",
"protein_id": "ENSP00000445034.1",
"transcript_support_level": 2,
"aa_start": 372,
"aa_end": null,
"aa_length": 379,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "c.1056C>T",
"hgvs_p": "p.Leu352Leu",
"transcript": "XM_047442564.1",
"protein_id": "XP_047298520.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 359,
"cds_start": 1056,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "n.232C>T",
"hgvs_p": null,
"transcript": "ENST00000461865.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRPX",
"gene_hgnc_id": 11309,
"hgvs_c": "n.243C>T",
"hgvs_p": null,
"transcript": "ENST00000479015.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SRPX",
"gene_hgnc_id": 11309,
"dbsnp": "rs35318931",
"frequency_reference_population": 0.070722796,
"hom_count_reference_population": 29008,
"allele_count_reference_population": 85139,
"gnomad_exomes_af": 0.0729267,
"gnomad_genomes_af": 0.049175,
"gnomad_exomes_ac": 79646,
"gnomad_genomes_ac": 5493,
"gnomad_exomes_homalt": 2376,
"gnomad_genomes_homalt": 153,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008332967758178711,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.2568,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.36,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000378533.4",
"gene_symbol": "SRPX",
"hgnc_id": 11309,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Ser413Phe"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000465127.1",
"gene_symbol": "ENSG00000250349",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.172-516253G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}