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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: 1-151028900-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151028900&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151028900,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000271620.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Trp",
"transcript": "NM_021222.3",
"protein_id": "NP_067045.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 453,
"cds_start": 889,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "ENST00000271620.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Trp",
"transcript": "ENST00000271620.8",
"protein_id": "ENSP00000271620.3",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 453,
"cds_start": 889,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "NM_021222.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Trp",
"transcript": "ENST00000368936.5",
"protein_id": "ENSP00000357932.1",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 271,
"cds_start": 343,
"cds_end": null,
"cds_length": 816,
"cdna_start": 836,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.228+1573C>T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.78+1573C>T",
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "ENST00000650332.1",
"protein_id": "ENSP00000497847.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 454,
"cds_start": 799,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Trp",
"transcript": "NM_001303229.2",
"protein_id": "NP_001290158.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 271,
"cds_start": 343,
"cds_end": null,
"cds_length": 816,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Trp",
"transcript": "NM_001303243.2",
"protein_id": "NP_001290172.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 252,
"cds_start": 286,
"cds_end": null,
"cds_length": 759,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Trp",
"transcript": "ENST00000450884.5",
"protein_id": "ENSP00000387696.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 138,
"cds_start": 343,
"cds_end": null,
"cds_length": 419,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "XM_005245393.6",
"protein_id": "XP_005245450.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 423,
"cds_start": 799,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Trp",
"transcript": "XM_011509832.3",
"protein_id": "XP_011508134.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 271,
"cds_start": 343,
"cds_end": null,
"cds_length": 816,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Trp",
"transcript": "XM_047426607.1",
"protein_id": "XP_047282563.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 271,
"cds_start": 343,
"cds_end": null,
"cds_length": 816,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Trp",
"transcript": "XM_047426610.1",
"protein_id": "XP_047282566.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 252,
"cds_start": 286,
"cds_end": null,
"cds_length": 759,
"cdna_start": 413,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.638C>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.1012C>T",
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.711C>T",
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.526C>T",
"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,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.774+1573C>T",
"hgvs_p": null,
"transcript": "NM_001303242.2",
"protein_id": "NP_001290171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2866,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.228+1573C>T",
"hgvs_p": null,
"transcript": "ENST00000368934.1",
"protein_id": "ENSP00000357930.1",
"transcript_support_level": 2,
"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": 2214,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.228+1573C>T",
"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": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.477+1573C>T",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.411+1573C>T",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "n.570+1573C>T",
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"hgvs_c": "c.684+1573C>T",
"hgvs_p": null,
"transcript": "XM_017001955.3",
"protein_id": "XP_016857444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRUNE1",
"gene_hgnc_id": 13420,
"dbsnp": "rs752599948",
"frequency_reference_population": 0.000004789672,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478967,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8215634226799011,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.441,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6633,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.882,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000271620.8",
"gene_symbol": "PRUNE1",
"hgnc_id": 13420,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Trp"
}
],
"clinvar_disease": " and variable brain anomalies, hypotonia,Neurodevelopmental disorder with microcephaly,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}