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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: 2-205745778-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=205745778&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 205745778,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000357785.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "NM_003872.3",
"protein_id": "NP_003863.2",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 926,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 6644,
"mane_select": "ENST00000357785.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "ENST00000357785.10",
"protein_id": "ENSP00000350432.5",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 926,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 6644,
"mane_select": "NM_003872.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "ENST00000360409.7",
"protein_id": "ENSP00000353582.3",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 931,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 6662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "ENST00000412873.2",
"protein_id": "ENSP00000407626.2",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 909,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "ENST00000272849.7",
"protein_id": "ENSP00000272849.3",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 906,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "ENST00000357118.8",
"protein_id": "ENSP00000349632.4",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 901,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "NM_201266.2",
"protein_id": "NP_957718.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 931,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 6659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "NM_201279.2",
"protein_id": "NP_958436.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 909,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 6593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "NM_018534.4",
"protein_id": "NP_061004.3",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 906,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 6699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "NM_201267.2",
"protein_id": "NP_957719.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 901,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 6684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "XM_047446170.1",
"protein_id": "XP_047302126.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 931,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 6474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "XM_047446171.1",
"protein_id": "XP_047302127.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 931,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 6147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "XM_047446172.1",
"protein_id": "XP_047302128.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 926,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "XM_047446173.1",
"protein_id": "XP_047302129.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 926,
"cds_start": 1674,
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"cds_length": 2781,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "XM_047446174.1",
"protein_id": "XP_047302130.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 906,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 6514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "XM_047446175.1",
"protein_id": "XP_047302131.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 901,
"cds_start": 1674,
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"cds_length": 2706,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 6499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "XM_047446176.1",
"protein_id": "XP_047302132.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 901,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro",
"transcript": "XM_017005188.3",
"protein_id": "XP_016860677.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 848,
"cds_start": 1674,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 9374,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "n.2464T>G",
"hgvs_p": null,
"transcript": "XR_007083522.1",
"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": 3003,
"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": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"hgvs_c": "n.2464T>G",
"hgvs_p": null,
"transcript": "XR_923057.4",
"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": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRP2",
"gene_hgnc_id": 8005,
"dbsnp": "rs849563",
"frequency_reference_population": 0.15687387,
"hom_count_reference_population": 23123,
"allele_count_reference_population": 253196,
"gnomad_exomes_af": 0.155724,
"gnomad_genomes_af": 0.16791,
"gnomad_exomes_ac": 227626,
"gnomad_genomes_ac": 25570,
"gnomad_exomes_homalt": 20748,
"gnomad_genomes_homalt": 2375,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.571,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357785.10",
"gene_symbol": "NRP2",
"hgnc_id": 8005,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1674T>G",
"hgvs_p": "p.Pro558Pro"
}
],
"clinvar_disease": "NRP2-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "NRP2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}