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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: 3-124796662-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124796662&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124796662,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000296181.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1419C>G",
"hgvs_p": "p.Ser473Arg",
"transcript": "NM_002213.5",
"protein_id": "NP_002204.2",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 799,
"cds_start": 1419,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "ENST00000296181.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1419C>G",
"hgvs_p": "p.Ser473Arg",
"transcript": "ENST00000296181.9",
"protein_id": "ENSP00000296181.4",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 799,
"cds_start": 1419,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": "NM_002213.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1095C>G",
"hgvs_p": "p.Ser365Arg",
"transcript": "NM_001354764.2",
"protein_id": "NP_001341693.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 691,
"cds_start": 1095,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1095C>G",
"hgvs_p": "p.Ser365Arg",
"transcript": "NM_001354765.1",
"protein_id": "NP_001341694.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 691,
"cds_start": 1095,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.960C>G",
"hgvs_p": "p.Ser320Arg",
"transcript": "NM_001354766.2",
"protein_id": "NP_001341695.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 646,
"cds_start": 960,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Ser162Arg",
"transcript": "ENST00000481591.5",
"protein_id": "ENSP00000420814.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 399,
"cds_start": 486,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"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": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.603C>G",
"hgvs_p": "p.Ser201Arg",
"transcript": "ENST00000488466.5",
"protein_id": "ENSP00000477446.1",
"transcript_support_level": 5,
"aa_start": 201,
"aa_end": null,
"aa_length": 322,
"cds_start": 603,
"cds_end": null,
"cds_length": 971,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.717C>G",
"hgvs_p": "p.Ser239Arg",
"transcript": "ENST00000496703.1",
"protein_id": "ENSP00000418367.1",
"transcript_support_level": 2,
"aa_start": 239,
"aa_end": null,
"aa_length": 261,
"cds_start": 717,
"cds_end": null,
"cds_length": 788,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1329C>G",
"hgvs_p": "p.Ser443Arg",
"transcript": "XM_005247436.4",
"protein_id": "XP_005247493.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 769,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Ser428Arg",
"transcript": "XM_006713630.4",
"protein_id": "XP_006713693.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 754,
"cds_start": 1284,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1095C>G",
"hgvs_p": "p.Ser365Arg",
"transcript": "XM_017006353.2",
"protein_id": "XP_016861842.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 691,
"cds_start": 1095,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1095C>G",
"hgvs_p": "p.Ser365Arg",
"transcript": "XM_047448087.1",
"protein_id": "XP_047304043.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 691,
"cds_start": 1095,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1005C>G",
"hgvs_p": "p.Ser335Arg",
"transcript": "XM_047448088.1",
"protein_id": "XP_047304044.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 661,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.960C>G",
"hgvs_p": "p.Ser320Arg",
"transcript": "XM_047448089.1",
"protein_id": "XP_047304045.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 646,
"cds_start": 960,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 3888,
"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": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "n.353C>G",
"hgvs_p": null,
"transcript": "ENST00000474838.1",
"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": 475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"dbsnp": "rs2291088",
"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": 0.8628125190734863,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.637,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9248,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.028,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000296181.9",
"gene_symbol": "ITGB5",
"hgnc_id": 6160,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1419C>G",
"hgvs_p": "p.Ser473Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}