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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: 7-100612796-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100612796&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100612796,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_023948.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "NM_023948.5",
"protein_id": "NP_076438.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 235,
"cds_start": 5,
"cds_end": null,
"cds_length": 708,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1154,
"mane_select": "ENST00000393950.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "ENST00000393950.7",
"protein_id": "ENSP00000377522.2",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 235,
"cds_start": 5,
"cds_end": null,
"cds_length": 708,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1154,
"mane_select": "NM_023948.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "ENST00000424091.2",
"protein_id": "ENSP00000404626.2",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 225,
"cds_start": 5,
"cds_end": null,
"cds_length": 678,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "NM_001040097.2",
"protein_id": "NP_001035186.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 235,
"cds_start": 5,
"cds_end": null,
"cds_length": 708,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "NM_001040098.1",
"protein_id": "NP_001035187.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 235,
"cds_start": 5,
"cds_end": null,
"cds_length": 708,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "NM_001363415.1",
"protein_id": "NP_001350344.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 235,
"cds_start": 5,
"cds_end": null,
"cds_length": 708,
"cdna_start": 130,
"cdna_end": null,
"cdna_length": 1027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "NM_001363416.1",
"protein_id": "NP_001350345.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 235,
"cds_start": 5,
"cds_end": null,
"cds_length": 708,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "ENST00000223054.8",
"protein_id": "ENSP00000223054.4",
"transcript_support_level": 2,
"aa_start": 2,
"aa_end": null,
"aa_length": 235,
"cds_start": 5,
"cds_end": null,
"cds_length": 708,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "ENST00000379527.6",
"protein_id": "ENSP00000368842.2",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 235,
"cds_start": 5,
"cds_end": null,
"cds_length": 708,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "NM_001040099.2",
"protein_id": "NP_001035188.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 225,
"cds_start": 5,
"cds_end": null,
"cds_length": 678,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "ENST00000493970.5",
"protein_id": "ENSP00000417276.1",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 224,
"cds_start": 5,
"cds_end": null,
"cds_length": 677,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "XM_047420714.1",
"protein_id": "XP_047276670.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 235,
"cds_start": 5,
"cds_end": null,
"cds_length": 708,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 1000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "n.5G>A",
"hgvs_p": null,
"transcript": "ENST00000462372.5",
"protein_id": "ENSP00000419535.1",
"transcript_support_level": 5,
"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": 979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "n.125G>A",
"hgvs_p": null,
"transcript": "ENST00000490309.1",
"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": 826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MOSPD3",
"gene_hgnc_id": 25078,
"hgvs_c": "n.-19G>A",
"hgvs_p": null,
"transcript": "ENST00000497456.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MOSPD3",
"gene_hgnc_id": 25078,
"dbsnp": "rs1802866126",
"frequency_reference_population": 0.0000027929684,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000279297,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29540491104125977,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
"alphamissense_score": 0.649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.681,
"phylop100way_prediction": "Benign",
"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": 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_023948.5",
"gene_symbol": "MOSPD3",
"hgnc_id": 25078,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His"
}
],
"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
}