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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: 1-151018650-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151018650&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151018650,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000271620.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.316G>A",
"hgvs_p": "p.Asp106Asn",
"transcript": "NM_021222.3",
"protein_id": "NP_067045.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 453,
"cds_start": 316,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "ENST00000271620.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.316G>A",
"hgvs_p": "p.Asp106Asn",
"transcript": "ENST00000271620.8",
"protein_id": "ENSP00000271620.3",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 453,
"cds_start": 316,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "NM_021222.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.-212+746G>A",
"hgvs_p": null,
"transcript": "ENST00000368936.5",
"protein_id": "ENSP00000357932.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.-26-6865G>A",
"hgvs_p": null,
"transcript": "ENST00000368937.5",
"protein_id": "ENSP00000357933.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.-18+746G>A",
"hgvs_p": null,
"transcript": "ENST00000368935.1",
"protein_id": "ENSP00000357931.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Asp76Asn",
"transcript": "ENST00000650332.1",
"protein_id": "ENSP00000497847.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 454,
"cds_start": 226,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.316G>A",
"hgvs_p": "p.Asp106Asn",
"transcript": "NM_001303242.2",
"protein_id": "NP_001290171.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 400,
"cds_start": 316,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Asp76Asn",
"transcript": "XM_005245393.6",
"protein_id": "XP_005245450.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 423,
"cds_start": 226,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Asp76Asn",
"transcript": "XM_017001955.3",
"protein_id": "XP_016857444.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 370,
"cds_start": 226,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Ser19Ser",
"transcript": "NM_001303243.2",
"protein_id": "NP_001290172.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 252,
"cds_start": 57,
"cds_end": null,
"cds_length": 759,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Ser19Ser",
"transcript": "XM_047426610.1",
"protein_id": "XP_047282566.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 252,
"cds_start": 57,
"cds_end": null,
"cds_length": 759,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 2365,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.409G>A",
"hgvs_p": null,
"transcript": "ENST00000462440.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 732,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.439G>A",
"hgvs_p": null,
"transcript": "ENST00000467771.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1065,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.482G>A",
"hgvs_p": null,
"transcript": "ENST00000475722.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.-212+746G>A",
"hgvs_p": null,
"transcript": "NM_001303229.2",
"protein_id": "NP_001290158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.-27+746G>A",
"hgvs_p": null,
"transcript": "ENST00000431193.5",
"protein_id": "ENSP00000392632.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.-211-5961G>A",
"hgvs_p": null,
"transcript": "ENST00000450884.5",
"protein_id": "ENSP00000387696.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.224-6865G>A",
"hgvs_p": null,
"transcript": "NR_130130.2",
"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": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.316+746G>A",
"hgvs_p": null,
"transcript": "NR_130131.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.316+746G>A",
"hgvs_p": null,
"transcript": "NR_130132.2",
"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": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.316+746G>A",
"hgvs_p": null,
"transcript": "NR_130135.2",
"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": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.-211-5961G>A",
"hgvs_p": null,
"transcript": "XM_011509832.3",
"protein_id": "XP_011508134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.-27+746G>A",
"hgvs_p": null,
"transcript": "XM_047426607.1",
"protein_id": "XP_047282563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"dbsnp": "rs773618224",
"frequency_reference_population": 0.000025405276,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000253122,
"gnomad_genomes_af": 0.0000262995,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5817031264305115,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.303,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.873,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.633,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000271620.8",
"gene_symbol": "PRUNE1",
"hgnc_id": 13420,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.316G>A",
"hgvs_p": "p.Asp106Asn"
}
],
"clinvar_disease": " and variable brain anomalies, hypotonia,Abnormal brain morphology,Neurodevelopmental disorder with microcephaly,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:12 LP:1",
"phenotype_combined": "Abnormal brain morphology|Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}