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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: 1-235980529-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235980529&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235980529,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002508.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3352G>A",
"hgvs_p": "p.Ala1118Thr",
"transcript": "NM_002508.3",
"protein_id": "NP_002499.2",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264187.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002508.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3352G>A",
"hgvs_p": "p.Ala1118Thr",
"transcript": "ENST00000264187.7",
"protein_id": "ENSP00000264187.6",
"transcript_support_level": 1,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3352,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002508.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264187.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.2953G>A",
"hgvs_p": "p.Ala985Thr",
"transcript": "ENST00000366595.7",
"protein_id": "ENSP00000355554.3",
"transcript_support_level": 1,
"aa_start": 985,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2953,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366595.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3349G>A",
"hgvs_p": "p.Ala1117Thr",
"transcript": "ENST00000856588.1",
"protein_id": "ENSP00000526647.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3349,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856588.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3346G>A",
"hgvs_p": "p.Ala1116Thr",
"transcript": "ENST00000955836.1",
"protein_id": "ENSP00000625895.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1245,
"cds_start": 3346,
"cds_end": null,
"cds_length": 3738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955836.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3229G>A",
"hgvs_p": "p.Ala1077Thr",
"transcript": "ENST00000856586.1",
"protein_id": "ENSP00000526645.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3229,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856586.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3226G>A",
"hgvs_p": "p.Ala1076Thr",
"transcript": "ENST00000924974.1",
"protein_id": "ENSP00000595033.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3226,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924974.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3223G>A",
"hgvs_p": "p.Ala1075Thr",
"transcript": "ENST00000955837.1",
"protein_id": "ENSP00000625896.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1204,
"cds_start": 3223,
"cds_end": null,
"cds_length": 3615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955837.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3202G>A",
"hgvs_p": "p.Ala1068Thr",
"transcript": "ENST00000856589.1",
"protein_id": "ENSP00000526648.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3202,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856589.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3202G>A",
"hgvs_p": "p.Ala1068Thr",
"transcript": "ENST00000924973.1",
"protein_id": "ENSP00000595032.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3202,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924973.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3124G>A",
"hgvs_p": "p.Ala1042Thr",
"transcript": "ENST00000856587.1",
"protein_id": "ENSP00000526646.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856587.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3079G>A",
"hgvs_p": "p.Ala1027Thr",
"transcript": "ENST00000856585.1",
"protein_id": "ENSP00000526644.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856585.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.3076G>A",
"hgvs_p": "p.Ala1026Thr",
"transcript": "ENST00000856590.1",
"protein_id": "ENSP00000526649.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3076,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856590.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"hgvs_c": "c.2926G>A",
"hgvs_p": "p.Ala976Thr",
"transcript": "ENST00000955835.1",
"protein_id": "ENSP00000625894.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2926,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955835.1"
}
],
"gene_symbol": "NID1",
"gene_hgnc_id": 7821,
"dbsnp": "rs1480229342",
"frequency_reference_population": 0.000002052152,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10006853938102722,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.0694,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.684,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002508.3",
"gene_symbol": "NID1",
"hgnc_id": 7821,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3352G>A",
"hgvs_p": "p.Ala1118Thr"
}
],
"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
}