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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: 15-64162866-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=64162866&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 64162866,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_000942.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "NM_000942.5",
"protein_id": "NP_000933.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 216,
"cds_start": 120,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300026.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000942.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000300026.4",
"protein_id": "ENSP00000300026.4",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 216,
"cds_start": 120,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000942.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300026.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "n.153delC",
"hgvs_p": null,
"transcript": "ENST00000561048.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000561048.2"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000851557.1",
"protein_id": "ENSP00000521616.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 225,
"cds_start": 120,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851557.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000681397.1",
"protein_id": "ENSP00000506584.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 216,
"cds_start": 120,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681397.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000851556.1",
"protein_id": "ENSP00000521615.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 215,
"cds_start": 120,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851556.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000919164.1",
"protein_id": "ENSP00000589223.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 214,
"cds_start": 120,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919164.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000919167.1",
"protein_id": "ENSP00000589226.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 189,
"cds_start": 120,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919167.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000919170.1",
"protein_id": "ENSP00000589229.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 177,
"cds_start": 120,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919170.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000919166.1",
"protein_id": "ENSP00000589225.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 173,
"cds_start": 120,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919166.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000919173.1",
"protein_id": "ENSP00000589232.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 172,
"cds_start": 120,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919173.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000919162.1",
"protein_id": "ENSP00000589221.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 169,
"cds_start": 120,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919162.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000919169.1",
"protein_id": "ENSP00000589228.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 163,
"cds_start": 120,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919169.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000718123.1",
"protein_id": "ENSP00000520679.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 158,
"cds_start": 120,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718123.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs",
"transcript": "ENST00000919172.1",
"protein_id": "ENSP00000589231.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 46,
"cds_start": 120,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919172.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.30+90delC",
"hgvs_p": null,
"transcript": "ENST00000681658.1",
"protein_id": "ENSP00000505431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.30+90delC",
"hgvs_p": null,
"transcript": "ENST00000919163.1",
"protein_id": "ENSP00000589222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919163.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.30+90delC",
"hgvs_p": null,
"transcript": "ENST00000919171.1",
"protein_id": "ENSP00000589230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 45,
"cds_start": null,
"cds_end": null,
"cds_length": 138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.30+90delC",
"hgvs_p": null,
"transcript": "ENST00000919168.1",
"protein_id": "ENSP00000589227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 22,
"cds_start": null,
"cds_end": null,
"cds_length": 69,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919168.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.30+90delC",
"hgvs_p": null,
"transcript": "ENST00000919165.1",
"protein_id": "ENSP00000589224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 11,
"cds_start": null,
"cds_end": null,
"cds_length": 36,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "n.140delC",
"hgvs_p": null,
"transcript": "ENST00000558492.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000558492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "n.120delC",
"hgvs_p": null,
"transcript": "ENST00000680158.1",
"protein_id": "ENSP00000504873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "n.120delC",
"hgvs_p": null,
"transcript": "ENST00000718122.1",
"protein_id": "ENSP00000520678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000718122.1"
}
],
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"dbsnp": "rs137853865",
"frequency_reference_population": 0.000010278225,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000102782,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"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": 1.628,
"phylop100way_prediction": "Benign",
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000942.5",
"gene_symbol": "PPIB",
"hgnc_id": 9255,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.120delC",
"hgvs_p": "p.Val42fs"
}
],
"clinvar_disease": "Osteogenesis imperfecta type 9,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not provided|Osteogenesis imperfecta type 9",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}