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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: 17-31343027-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=31343027&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 31343027,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001042492.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7081A>G",
"hgvs_p": "p.Met2361Val",
"transcript": "NM_001042492.3",
"protein_id": "NP_001035957.1",
"transcript_support_level": null,
"aa_start": 2361,
"aa_end": null,
"aa_length": 2839,
"cds_start": 7081,
"cds_end": null,
"cds_length": 8520,
"cdna_start": 7414,
"cdna_end": null,
"cdna_length": 12373,
"mane_select": "ENST00000358273.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7081A>G",
"hgvs_p": "p.Met2361Val",
"transcript": "ENST00000358273.9",
"protein_id": "ENSP00000351015.4",
"transcript_support_level": 1,
"aa_start": 2361,
"aa_end": null,
"aa_length": 2839,
"cds_start": 7081,
"cds_end": null,
"cds_length": 8520,
"cdna_start": 7414,
"cdna_end": null,
"cdna_length": 12373,
"mane_select": "NM_001042492.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7018A>G",
"hgvs_p": "p.Met2340Val",
"transcript": "ENST00000356175.7",
"protein_id": "ENSP00000348498.3",
"transcript_support_level": 1,
"aa_start": 2340,
"aa_end": null,
"aa_length": 2818,
"cds_start": 7018,
"cds_end": null,
"cds_length": 8457,
"cdna_start": 7401,
"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": 48,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.*2246A>G",
"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": 48,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.*2246A>G",
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7111A>G",
"hgvs_p": "p.Met2371Val",
"transcript": "ENST00000691014.1",
"protein_id": "ENSP00000510595.1",
"transcript_support_level": null,
"aa_start": 2371,
"aa_end": null,
"aa_length": 2849,
"cds_start": 7111,
"cds_end": null,
"cds_length": 8550,
"cdna_start": 7444,
"cdna_end": null,
"cdna_length": 12415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7018A>G",
"hgvs_p": "p.Met2340Val",
"transcript": "NM_000267.4",
"protein_id": "NP_000258.1",
"transcript_support_level": null,
"aa_start": 2340,
"aa_end": null,
"aa_length": 2818,
"cds_start": 7018,
"cds_end": null,
"cds_length": 8457,
"cdna_start": 7351,
"cdna_end": null,
"cdna_length": 12310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7063A>G",
"hgvs_p": "p.Met2355Val",
"transcript": "ENST00000696138.1",
"protein_id": "ENSP00000512431.1",
"transcript_support_level": null,
"aa_start": 2355,
"aa_end": null,
"aa_length": 2807,
"cds_start": 7063,
"cds_end": null,
"cds_length": 8424,
"cdna_start": 7446,
"cdna_end": null,
"cdna_length": 12484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.6016A>G",
"hgvs_p": "p.Met2006Val",
"transcript": "ENST00000456735.6",
"protein_id": "ENSP00000389907.2",
"transcript_support_level": 5,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2502,
"cds_start": 6016,
"cds_end": null,
"cds_length": 7509,
"cdna_start": 6016,
"cdna_end": null,
"cdna_length": 7787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.1645A>G",
"hgvs_p": "p.Met549Val",
"transcript": "ENST00000684826.1",
"protein_id": "ENSP00000509994.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 1045,
"cds_start": 1645,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 7344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.1645A>G",
"hgvs_p": "p.Met549Val",
"transcript": "ENST00000693617.1",
"protein_id": "ENSP00000510031.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1645,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 7501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.1237A>G",
"hgvs_p": "p.Met413Val",
"transcript": "ENST00000687027.1",
"protein_id": "ENSP00000508715.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 891,
"cds_start": 1237,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 6985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Met7Val",
"transcript": "ENST00000689464.1",
"protein_id": "ENSP00000510673.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 540,
"cds_start": 19,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 20,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.463A>G",
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.223A>G",
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.323A>G",
"hgvs_p": null,
"transcript": "ENST00000582892.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 462,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.495A>G",
"hgvs_p": null,
"transcript": "ENST00000584328.1",
"protein_id": null,
"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": 566,
"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": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.3726A>G",
"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": "rs1022562410",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7221685647964478,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.407,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3497,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.556,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001042492.3",
"gene_symbol": "NF1",
"hgnc_id": 7765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7081A>G",
"hgvs_p": "p.Met2361Val"
}
],
"clinvar_disease": " type 1,Cardiovascular phenotype,Hereditary cancer-predisposing syndrome,Juvenile myelomonocytic leukemia,Neurofibromatosis,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Neurofibromatosis, type 1|not provided|Juvenile myelomonocytic leukemia|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}