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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: 17-31350241-ACTT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=31350241&ref=ACTT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 31350241,
"ref": "ACTT",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000358273.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7387_7389delCTT",
"hgvs_p": "p.Leu2463del",
"transcript": "NM_001042492.3",
"protein_id": "NP_001035957.1",
"transcript_support_level": null,
"aa_start": 2463,
"aa_end": null,
"aa_length": 2839,
"cds_start": 7387,
"cds_end": null,
"cds_length": 8520,
"cdna_start": 7720,
"cdna_end": null,
"cdna_length": 12373,
"mane_select": "ENST00000358273.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7387_7389delCTT",
"hgvs_p": "p.Leu2463del",
"transcript": "ENST00000358273.9",
"protein_id": "ENSP00000351015.4",
"transcript_support_level": 1,
"aa_start": 2463,
"aa_end": null,
"aa_length": 2839,
"cds_start": 7387,
"cds_end": null,
"cds_length": 8520,
"cdna_start": 7720,
"cdna_end": null,
"cdna_length": 12373,
"mane_select": "NM_001042492.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7324_7326delCTT",
"hgvs_p": "p.Leu2442del",
"transcript": "ENST00000356175.7",
"protein_id": "ENSP00000348498.3",
"transcript_support_level": 1,
"aa_start": 2442,
"aa_end": null,
"aa_length": 2818,
"cds_start": 7324,
"cds_end": null,
"cds_length": 8457,
"cdna_start": 7707,
"cdna_end": null,
"cdna_length": 12362,
"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": 50,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.*2552_*2554delCTT",
"hgvs_p": null,
"transcript": "ENST00000579081.6",
"protein_id": "ENSP00000462408.2",
"transcript_support_level": 1,
"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": 8788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.*2552_*2554delCTT",
"hgvs_p": null,
"transcript": "ENST00000579081.6",
"protein_id": "ENSP00000462408.2",
"transcript_support_level": 1,
"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": 8788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7417_7419delCTT",
"hgvs_p": "p.Leu2473del",
"transcript": "ENST00000691014.1",
"protein_id": "ENSP00000510595.1",
"transcript_support_level": null,
"aa_start": 2473,
"aa_end": null,
"aa_length": 2849,
"cds_start": 7417,
"cds_end": null,
"cds_length": 8550,
"cdna_start": 7750,
"cdna_end": null,
"cdna_length": 12415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7324_7326delCTT",
"hgvs_p": "p.Leu2442del",
"transcript": "NM_000267.4",
"protein_id": "NP_000258.1",
"transcript_support_level": null,
"aa_start": 2442,
"aa_end": null,
"aa_length": 2818,
"cds_start": 7324,
"cds_end": null,
"cds_length": 8457,
"cdna_start": 7657,
"cdna_end": null,
"cdna_length": 12310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7369_7371delCTT",
"hgvs_p": "p.Leu2457del",
"transcript": "ENST00000696138.1",
"protein_id": "ENSP00000512431.1",
"transcript_support_level": null,
"aa_start": 2457,
"aa_end": null,
"aa_length": 2807,
"cds_start": 7369,
"cds_end": null,
"cds_length": 8424,
"cdna_start": 7752,
"cdna_end": null,
"cdna_length": 12484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.6322_6324delCTT",
"hgvs_p": "p.Leu2108del",
"transcript": "ENST00000456735.6",
"protein_id": "ENSP00000389907.2",
"transcript_support_level": 5,
"aa_start": 2108,
"aa_end": null,
"aa_length": 2502,
"cds_start": 6322,
"cds_end": null,
"cds_length": 7509,
"cdna_start": 6322,
"cdna_end": null,
"cdna_length": 7787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.1951_1953delCTT",
"hgvs_p": "p.Leu651del",
"transcript": "ENST00000684826.1",
"protein_id": "ENSP00000509994.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1045,
"cds_start": 1951,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 7344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.1951_1953delCTT",
"hgvs_p": "p.Leu651del",
"transcript": "ENST00000693617.1",
"protein_id": "ENSP00000510031.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1951,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 7501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.1543_1545delCTT",
"hgvs_p": "p.Leu515del",
"transcript": "ENST00000687027.1",
"protein_id": "ENSP00000508715.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 891,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 6985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.436_438delCTT",
"hgvs_p": "p.Leu146del",
"transcript": "ENST00000689464.1",
"protein_id": "ENSP00000510673.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 540,
"cds_start": 436,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 5082,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.769_771delCTT",
"hgvs_p": null,
"transcript": "ENST00000471572.6",
"protein_id": "ENSP00000464678.1",
"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": 2028,
"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": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.529_531delCTT",
"hgvs_p": null,
"transcript": "ENST00000581790.5",
"protein_id": "ENSP00000462700.1",
"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": 1256,
"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": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.4032_4034delCTT",
"hgvs_p": null,
"transcript": "ENST00000687863.1",
"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": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"dbsnp": "rs786203184",
"frequency_reference_population": 0.000015493173,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000164223,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.236,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4_Supporting,BP6,BS2_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 2,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000358273.9",
"gene_symbol": "NF1",
"hgnc_id": 7765,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7387_7389delCTT",
"hgvs_p": "p.Leu2463del"
}
],
"clinvar_disease": " familial spinal, type 1,Café-au-lait macules with pulmonary stenosis,Cardiovascular phenotype,Hereditary cancer-predisposing syndrome,Juvenile myelomonocytic leukemia,Neurofibromatosis,Neurofibromatosis-Noonan syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:3 B:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 1|not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|Juvenile myelomonocytic leukemia;Neurofibromatosis, type 1;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome;Café-au-lait macules with pulmonary stenosis|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}