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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: 17-31358592-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=31358592&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NF1",
"hgnc_id": 7765,
"hgvs_c": "c.8083C>T",
"hgvs_p": "p.Pro2695Ser",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001042492.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.141,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " type 1,Cardiovascular phenotype,Hereditary cancer-predisposing syndrome,Neurofibromatosis",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.34237194061279297,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2839,
"aa_ref": "P",
"aa_start": 2695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12373,
"cdna_start": 8416,
"cds_end": null,
"cds_length": 8520,
"cds_start": 8083,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "NM_001042492.3",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.8083C>T",
"hgvs_p": "p.Pro2695Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358273.9",
"protein_coding": true,
"protein_id": "NP_001035957.1",
"strand": true,
"transcript": "NM_001042492.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2839,
"aa_ref": "P",
"aa_start": 2695,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12373,
"cdna_start": 8416,
"cds_end": null,
"cds_length": 8520,
"cds_start": 8083,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000358273.9",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.8083C>T",
"hgvs_p": "p.Pro2695Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042492.3",
"protein_coding": true,
"protein_id": "ENSP00000351015.4",
"strand": true,
"transcript": "ENST00000358273.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2818,
"aa_ref": "P",
"aa_start": 2674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12362,
"cdna_start": 8403,
"cds_end": null,
"cds_length": 8457,
"cds_start": 8020,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000356175.7",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.8020C>T",
"hgvs_p": "p.Pro2674Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348498.3",
"strand": true,
"transcript": "ENST00000356175.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8788,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 58,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000579081.6",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "n.*3248C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462408.2",
"strand": true,
"transcript": "ENST00000579081.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8788,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 58,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000579081.6",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "n.*3248C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462408.2",
"strand": true,
"transcript": "ENST00000579081.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2849,
"aa_ref": "P",
"aa_start": 2705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12415,
"cdna_start": 8446,
"cds_end": null,
"cds_length": 8550,
"cds_start": 8113,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "ENST00000691014.1",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.8113C>T",
"hgvs_p": "p.Pro2705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510595.1",
"strand": true,
"transcript": "ENST00000691014.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2818,
"aa_ref": "P",
"aa_start": 2674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12310,
"cdna_start": 8353,
"cds_end": null,
"cds_length": 8457,
"cds_start": 8020,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "NM_000267.4",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.8020C>T",
"hgvs_p": "p.Pro2674Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000258.1",
"strand": true,
"transcript": "NM_000267.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2807,
"aa_ref": "P",
"aa_start": 2689,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12484,
"cdna_start": 8448,
"cds_end": null,
"cds_length": 8424,
"cds_start": 8065,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000696138.1",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.8065C>T",
"hgvs_p": "p.Pro2689Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512431.1",
"strand": true,
"transcript": "ENST00000696138.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2502,
"aa_ref": "P",
"aa_start": 2340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7787,
"cdna_start": 7018,
"cds_end": null,
"cds_length": 7509,
"cds_start": 7018,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000456735.6",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.7018C>T",
"hgvs_p": "p.Pro2340Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389907.2",
"strand": true,
"transcript": "ENST00000456735.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "P",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7344,
"cdna_start": 3356,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2647,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000684826.1",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.2647C>T",
"hgvs_p": "p.Pro883Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509994.1",
"strand": true,
"transcript": "ENST00000684826.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1027,
"aa_ref": "P",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7501,
"cdna_start": 3532,
"cds_end": null,
"cds_length": 3084,
"cds_start": 2647,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000693617.1",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.2647C>T",
"hgvs_p": "p.Pro883Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510031.1",
"strand": true,
"transcript": "ENST00000693617.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 891,
"aa_ref": "P",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6985,
"cdna_start": 3016,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2239,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000687027.1",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Pro747Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508715.1",
"strand": true,
"transcript": "ENST00000687027.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 540,
"aa_ref": "P",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5082,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000689464.1",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Pro378Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510673.1",
"strand": true,
"transcript": "ENST00000689464.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 114,
"aa_ref": "P",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 592,
"cdna_start": 45,
"cds_end": null,
"cds_length": 345,
"cds_start": 43,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000468273.1",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Pro15Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464702.1",
"strand": true,
"transcript": "ENST00000468273.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000471572.6",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "n.1465C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464678.1",
"strand": true,
"transcript": "ENST00000471572.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5799,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000577967.1",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "n.2789C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000577967.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1256,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000581790.5",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "n.*449C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462700.1",
"strand": true,
"transcript": "ENST00000581790.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5018,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000687863.1",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "n.4728C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000687863.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1256,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000581790.5",
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"hgvs_c": "n.*449C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462700.1",
"strand": true,
"transcript": "ENST00000581790.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs772707560",
"effect": "missense_variant",
"frequency_reference_population": 6.841134e-7,
"gene_hgnc_id": 7765,
"gene_symbol": "NF1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84113e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Neurofibromatosis, type 1|Hereditary cancer-predisposing syndrome|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.43,
"pos": 31358592,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.183,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05999999865889549,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.06,
"transcript": "NM_001042492.3"
}
]
}