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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: X-134896933-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=134896933&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 134896933,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019556.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "NM_019556.3",
"protein_id": "NP_062456.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370783.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019556.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "ENST00000370783.8",
"protein_id": "ENSP00000359819.3",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019556.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370783.8"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "n.407A>G",
"hgvs_p": null,
"transcript": "ENST00000491609.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000491609.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "ENST00000370777.1",
"protein_id": "ENSP00000359813.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 214,
"cds_start": 332,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370777.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "ENST00000863474.1",
"protein_id": "ENSP00000533533.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863474.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "ENST00000863475.1",
"protein_id": "ENSP00000533534.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863475.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "ENST00000912669.1",
"protein_id": "ENSP00000582728.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912669.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "ENST00000960308.1",
"protein_id": "ENSP00000630367.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960308.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "NM_001306188.2",
"protein_id": "NP_001293117.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 159,
"cds_start": 332,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306188.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "ENST00000370779.8",
"protein_id": "ENSP00000359815.4",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 159,
"cds_start": 332,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370779.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "ENST00000863473.1",
"protein_id": "ENSP00000533532.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 159,
"cds_start": 332,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863473.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "ENST00000912667.1",
"protein_id": "ENSP00000582726.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 159,
"cds_start": 332,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912667.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.287A>G",
"hgvs_p": "p.Lys96Arg",
"transcript": "ENST00000912668.1",
"protein_id": "ENSP00000582727.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 144,
"cds_start": 287,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912668.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "XM_011531366.3",
"protein_id": "XP_011529668.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531366.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "XM_017029653.2",
"protein_id": "XP_016885142.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 213,
"cds_start": 332,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029653.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "XM_017029654.2",
"protein_id": "XP_016885143.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 159,
"cds_start": 332,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029654.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"transcript": "XM_047442258.1",
"protein_id": "XP_047298214.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 159,
"cds_start": 332,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442258.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "n.357A>G",
"hgvs_p": null,
"transcript": "ENST00000480721.5",
"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": "ENST00000480721.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"hgvs_c": "n.593A>G",
"hgvs_p": null,
"transcript": "ENST00000489890.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000489890.1"
}
],
"gene_symbol": "MOSPD1",
"gene_hgnc_id": 25235,
"dbsnp": "rs148836935",
"frequency_reference_population": 0.00008026572,
"hom_count_reference_population": 27,
"allele_count_reference_population": 97,
"gnomad_exomes_af": 0.0000802382,
"gnomad_genomes_af": 0.0000805362,
"gnomad_exomes_ac": 88,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18031492829322815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.1843,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.563,
"phylop100way_prediction": "Pathogenic",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_019556.3",
"gene_symbol": "MOSPD1",
"hgnc_id": 25235,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg"
}
],
"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
}