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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: 2-160125285-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=160125285&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 160125285,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000283249.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1883+1094G>C",
"hgvs_p": null,
"transcript": "NM_000888.5",
"protein_id": "NP_000879.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": -4,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": "ENST00000283249.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1883+1094G>C",
"hgvs_p": null,
"transcript": "ENST00000283249.7",
"protein_id": "ENSP00000283249.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": -4,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": "NM_000888.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1883+1094G>C",
"hgvs_p": null,
"transcript": "ENST00000409872.1",
"protein_id": "ENSP00000386367.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": -4,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1883+1094G>C",
"hgvs_p": null,
"transcript": "NM_001282353.2",
"protein_id": "NP_001269282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": -4,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1757+1094G>C",
"hgvs_p": null,
"transcript": "NM_001282388.2",
"protein_id": "NP_001269317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": -4,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1757+1094G>C",
"hgvs_p": null,
"transcript": "ENST00000428609.6",
"protein_id": "ENSP00000408024.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": -4,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1664+1094G>C",
"hgvs_p": null,
"transcript": "NM_001282389.2",
"protein_id": "NP_001269318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1598+1094G>C",
"hgvs_p": null,
"transcript": "NM_001282354.2",
"protein_id": "NP_001269283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1598+1094G>C",
"hgvs_p": null,
"transcript": "ENST00000620391.4",
"protein_id": "ENSP00000481183.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1660+12149G>C",
"hgvs_p": null,
"transcript": "NM_001282355.2",
"protein_id": "NP_001269284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1660+12149G>C",
"hgvs_p": null,
"transcript": "ENST00000409967.6",
"protein_id": "ENSP00000386828.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "c.1469+1094G>C",
"hgvs_p": null,
"transcript": "NM_001282390.2",
"protein_id": "NP_001269319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": -4,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ITGB6",
"gene_hgnc_id": 6161,
"hgvs_c": "n.*1497+1094G>C",
"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": "rs10497211",
"frequency_reference_population": 0.06606388,
"hom_count_reference_population": 379,
"allele_count_reference_population": 10061,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0660639,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 10061,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 379,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.543,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000283249.7",
"gene_symbol": "ITGB6",
"hgnc_id": 6161,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1883+1094G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}