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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: 1-235980587-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235980587&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235980587,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_002508.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3294G>A",
"hgvs_p": "p.Thr1098Thr",
"transcript": "NM_002508.3",
"protein_id": "NP_002499.2",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3294,
"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": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3294G>A",
"hgvs_p": "p.Thr1098Thr",
"transcript": "ENST00000264187.7",
"protein_id": "ENSP00000264187.6",
"transcript_support_level": 1,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3294,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2895G>A",
"hgvs_p": "p.Thr965Thr",
"transcript": "ENST00000366595.7",
"protein_id": "ENSP00000355554.3",
"transcript_support_level": 1,
"aa_start": 965,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2895,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3291G>A",
"hgvs_p": "p.Thr1097Thr",
"transcript": "ENST00000856588.1",
"protein_id": "ENSP00000526647.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3291,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3288G>A",
"hgvs_p": "p.Thr1096Thr",
"transcript": "ENST00000955836.1",
"protein_id": "ENSP00000625895.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1245,
"cds_start": 3288,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3171G>A",
"hgvs_p": "p.Thr1057Thr",
"transcript": "ENST00000856586.1",
"protein_id": "ENSP00000526645.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3171,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3168G>A",
"hgvs_p": "p.Thr1056Thr",
"transcript": "ENST00000924974.1",
"protein_id": "ENSP00000595033.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3168,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3165G>A",
"hgvs_p": "p.Thr1055Thr",
"transcript": "ENST00000955837.1",
"protein_id": "ENSP00000625896.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1204,
"cds_start": 3165,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3144G>A",
"hgvs_p": "p.Thr1048Thr",
"transcript": "ENST00000856589.1",
"protein_id": "ENSP00000526648.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3144,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3144G>A",
"hgvs_p": "p.Thr1048Thr",
"transcript": "ENST00000924973.1",
"protein_id": "ENSP00000595032.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3144,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3066G>A",
"hgvs_p": "p.Thr1022Thr",
"transcript": "ENST00000856587.1",
"protein_id": "ENSP00000526646.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3066,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3021G>A",
"hgvs_p": "p.Thr1007Thr",
"transcript": "ENST00000856585.1",
"protein_id": "ENSP00000526644.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3021,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.3018G>A",
"hgvs_p": "p.Thr1006Thr",
"transcript": "ENST00000856590.1",
"protein_id": "ENSP00000526649.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3018,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.2868G>A",
"hgvs_p": "p.Thr956Thr",
"transcript": "ENST00000955835.1",
"protein_id": "ENSP00000625894.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2868,
"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": "rs769647164",
"frequency_reference_population": 0.00002106518,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000225736,
"gnomad_genomes_af": 0.00000657229,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"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": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.876,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002508.3",
"gene_symbol": "NID1",
"hgnc_id": 7821,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3294G>A",
"hgvs_p": "p.Thr1098Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}