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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: 2-160195376-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=160195376&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 160195376,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000283249.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.586C>G",
"hgvs_p": "p.Pro196Ala",
"transcript": "NM_000888.5",
"protein_id": "NP_000879.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 788,
"cds_start": 586,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": "ENST00000283249.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.586C>G",
"hgvs_p": "p.Pro196Ala",
"transcript": "ENST00000283249.7",
"protein_id": "ENSP00000283249.2",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 788,
"cds_start": 586,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": "NM_000888.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.586C>G",
"hgvs_p": "p.Pro196Ala",
"transcript": "ENST00000409872.1",
"protein_id": "ENSP00000386367.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 788,
"cds_start": 586,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.586C>G",
"hgvs_p": "p.Pro196Ala",
"transcript": "NM_001282353.2",
"protein_id": "NP_001269282.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 788,
"cds_start": 586,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.460C>G",
"hgvs_p": "p.Pro154Ala",
"transcript": "NM_001282388.2",
"protein_id": "NP_001269317.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 746,
"cds_start": 460,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.460C>G",
"hgvs_p": "p.Pro154Ala",
"transcript": "ENST00000428609.6",
"protein_id": "ENSP00000408024.2",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 746,
"cds_start": 460,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Pro123Ala",
"transcript": "NM_001282389.2",
"protein_id": "NP_001269318.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 715,
"cds_start": 367,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 4468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Pro101Ala",
"transcript": "NM_001282354.2",
"protein_id": "NP_001269283.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 693,
"cds_start": 301,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Pro101Ala",
"transcript": "ENST00000620391.4",
"protein_id": "ENSP00000481183.1",
"transcript_support_level": 3,
"aa_start": 101,
"aa_end": null,
"aa_length": 693,
"cds_start": 301,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.586C>G",
"hgvs_p": "p.Pro196Ala",
"transcript": "NM_001282355.2",
"protein_id": "NP_001269284.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 681,
"cds_start": 586,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 4320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.586C>G",
"hgvs_p": "p.Pro196Ala",
"transcript": "ENST00000409967.6",
"protein_id": "ENSP00000386828.2",
"transcript_support_level": 3,
"aa_start": 196,
"aa_end": null,
"aa_length": 681,
"cds_start": 586,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Pro58Ala",
"transcript": "NM_001282390.2",
"protein_id": "NP_001269319.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 650,
"cds_start": 172,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 4388,
"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": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "n.*200C>G",
"hgvs_p": null,
"transcript": "ENST00000409583.5",
"protein_id": "ENSP00000386477.1",
"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": 4500,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "n.172C>G",
"hgvs_p": null,
"transcript": "ENST00000485635.2",
"protein_id": "ENSP00000520446.1",
"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": 1560,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "n.29C>G",
"hgvs_p": null,
"transcript": "ENST00000652612.1",
"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": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "n.*200C>G",
"hgvs_p": null,
"transcript": "ENST00000409583.5",
"protein_id": "ENSP00000386477.1",
"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": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"dbsnp": "rs730880298",
"frequency_reference_population": 0.000006571079,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657108,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9848778247833252,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.853,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000283249.7",
"gene_symbol": "ITGB6",
"hgnc_id": 6161,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.586C>G",
"hgvs_p": "p.Pro196Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}