← 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-48527202-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48527202&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48527202,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_006579.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "NM_006579.3",
"protein_id": "NP_006570.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000495186.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006579.3"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000495186.6",
"protein_id": "ENSP00000417052.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006579.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495186.6"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286268",
"gene_hgnc_id": null,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000651615.1",
"protein_id": "ENSP00000498524.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 285,
"cds_start": 386,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651615.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882073.1",
"protein_id": "ENSP00000552132.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882073.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882075.1",
"protein_id": "ENSP00000552134.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882075.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882076.1",
"protein_id": "ENSP00000552135.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882076.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882077.1",
"protein_id": "ENSP00000552136.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882077.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882078.1",
"protein_id": "ENSP00000552137.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882078.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882079.1",
"protein_id": "ENSP00000552138.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882079.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882080.1",
"protein_id": "ENSP00000552139.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882080.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882081.1",
"protein_id": "ENSP00000552140.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882081.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882082.1",
"protein_id": "ENSP00000552141.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882082.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882083.1",
"protein_id": "ENSP00000552142.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882083.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000936557.1",
"protein_id": "ENSP00000606616.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936557.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000969123.1",
"protein_id": "ENSP00000639182.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969123.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000882074.1",
"protein_id": "ENSP00000552133.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 218,
"cds_start": 386,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882074.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000969122.1",
"protein_id": "ENSP00000639181.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 218,
"cds_start": 386,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969122.1"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000446158.5",
"protein_id": "ENSP00000390031.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 159,
"cds_start": 386,
"cds_end": null,
"cds_length": 481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446158.5"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*",
"transcript": "ENST00000414061.1",
"protein_id": "ENSP00000405832.1",
"transcript_support_level": 3,
"aa_start": 129,
"aa_end": null,
"aa_length": 144,
"cds_start": 386,
"cds_end": null,
"cds_length": 437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "n.344G>A",
"hgvs_p": null,
"transcript": "ENST00000276096.10",
"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": "pseudogene",
"feature": "ENST00000276096.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "n.225G>A",
"hgvs_p": null,
"transcript": "ENST00000466461.1",
"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": "pseudogene",
"feature": "ENST00000466461.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"hgvs_c": "n.507G>A",
"hgvs_p": null,
"transcript": "ENST00000498425.1",
"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": "pseudogene",
"feature": "ENST00000498425.1"
}
],
"gene_symbol": "EBP",
"gene_hgnc_id": 3133,
"dbsnp": "rs104894792",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.231,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_006579.3",
"gene_symbol": "EBP",
"hgnc_id": 3133,
"effects": [
"stop_gained"
],
"inheritance_mode": "XL",
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*"
},
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000651615.1",
"gene_symbol": "ENSG00000286268",
"hgnc_id": null,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Trp129*"
}
],
"clinvar_disease": "Chondrodysplasia punctata 2 X-linked dominant",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Chondrodysplasia punctata 2 X-linked dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}