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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: 2-186622345-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=186622345&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 186622345,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002210.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "NM_002210.5",
"protein_id": "NP_002201.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 1048,
"cds_start": 323,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 7039,
"mane_select": "ENST00000261023.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "ENST00000261023.8",
"protein_id": "ENSP00000261023.3",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 1048,
"cds_start": 323,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 7039,
"mane_select": "NM_002210.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "ENST00000374907.7",
"protein_id": "ENSP00000364042.3",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 1012,
"cds_start": 323,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 6903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "ENST00000696906.1",
"protein_id": "ENSP00000512967.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 1044,
"cds_start": 323,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "ENST00000696913.1",
"protein_id": "ENSP00000512974.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 1021,
"cds_start": 323,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "NM_001145000.3",
"protein_id": "NP_001138472.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 1012,
"cds_start": 323,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "ENST00000696912.1",
"protein_id": "ENSP00000512973.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 1012,
"cds_start": 323,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "ENST00000696911.1",
"protein_id": "ENSP00000512972.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 1010,
"cds_start": 323,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 6898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Thr",
"transcript": "NM_001144999.3",
"protein_id": "NP_001138471.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 1002,
"cds_start": 185,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 6748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Thr",
"transcript": "ENST00000433736.6",
"protein_id": "ENSP00000404291.2",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 1002,
"cds_start": 185,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "ENST00000696909.1",
"protein_id": "ENSP00000512970.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 989,
"cds_start": 323,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "ENST00000696910.1",
"protein_id": "ENSP00000512971.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 974,
"cds_start": 323,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 6789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr",
"transcript": "ENST00000696907.1",
"protein_id": "ENSP00000512968.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 953,
"cds_start": 323,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 6770,
"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": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "n.323G>C",
"hgvs_p": null,
"transcript": "ENST00000696908.1",
"protein_id": "ENSP00000512969.1",
"transcript_support_level": null,
"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": 6988,
"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": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "n.323G>C",
"hgvs_p": null,
"transcript": "ENST00000696914.1",
"protein_id": "ENSP00000512975.1",
"transcript_support_level": null,
"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": 6967,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "n.332G>C",
"hgvs_p": null,
"transcript": "ENST00000696915.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2597,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "n.92G>C",
"hgvs_p": null,
"transcript": "ENST00000696916.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1416,
"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": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "n.593G>C",
"hgvs_p": null,
"transcript": "ENST00000696936.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2525,
"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": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"hgvs_c": "n.323G>C",
"hgvs_p": null,
"transcript": "ENST00000696937.1",
"protein_id": "ENSP00000512982.1",
"transcript_support_level": null,
"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": 7138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGAV",
"gene_hgnc_id": 6150,
"dbsnp": "rs1307304027",
"frequency_reference_population": 0.0000034318173,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000343182,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7973299622535706,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.707,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8486,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.846,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.14,
"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": "Likely_benign",
"acmg_criteria": "PM2,PP3,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002210.5",
"gene_symbol": "ITGAV",
"hgnc_id": 6150,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.323G>C",
"hgvs_p": "p.Arg108Thr"
}
],
"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
}