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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: 19-18166286-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18166286&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18166286,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005027.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Glu515Lys",
"transcript": "NM_005027.4",
"protein_id": "NP_005018.2",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 728,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": "ENST00000222254.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005027.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Glu515Lys",
"transcript": "ENST00000222254.13",
"protein_id": "ENSP00000222254.6",
"transcript_support_level": 1,
"aa_start": 515,
"aa_end": null,
"aa_length": 728,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": "NM_005027.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222254.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268173",
"gene_hgnc_id": null,
"hgvs_c": "n.1543G>A",
"hgvs_p": null,
"transcript": "ENST00000593731.1",
"protein_id": "ENSP00000471914.1",
"transcript_support_level": 2,
"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": 5142,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000593731.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.*571G>A",
"hgvs_p": null,
"transcript": "ENST00000617130.6",
"protein_id": "ENSP00000477864.2",
"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": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617130.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.*571G>A",
"hgvs_p": null,
"transcript": "ENST00000617130.6",
"protein_id": "ENSP00000477864.2",
"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": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617130.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Glu515Lys",
"transcript": "ENST00000925098.1",
"protein_id": "ENSP00000595157.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 738,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925098.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Glu515Lys",
"transcript": "ENST00000874456.1",
"protein_id": "ENSP00000544515.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 728,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 4759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874456.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Glu515Lys",
"transcript": "ENST00000874458.1",
"protein_id": "ENSP00000544517.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 728,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874458.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Glu515Lys",
"transcript": "ENST00000965709.1",
"protein_id": "ENSP00000635768.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 728,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965709.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Glu515Lys",
"transcript": "ENST00000965710.1",
"protein_id": "ENSP00000635769.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 728,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965710.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Glu514Lys",
"transcript": "ENST00000925097.1",
"protein_id": "ENSP00000595156.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 727,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925097.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Glu513Lys",
"transcript": "ENST00000874453.1",
"protein_id": "ENSP00000544512.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 726,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874453.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Glu513Lys",
"transcript": "ENST00000925100.1",
"protein_id": "ENSP00000595159.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 726,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925100.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"transcript": "ENST00000874457.1",
"protein_id": "ENSP00000544516.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 722,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874457.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Glu506Lys",
"transcript": "ENST00000874459.1",
"protein_id": "ENSP00000544518.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 719,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874459.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Glu515Lys",
"transcript": "ENST00000925099.1",
"protein_id": "ENSP00000595158.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 704,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925099.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Glu484Lys",
"transcript": "ENST00000874454.1",
"protein_id": "ENSP00000544513.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 697,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874454.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Glu471Lys",
"transcript": "ENST00000925096.1",
"protein_id": "ENSP00000595155.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 684,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925096.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Glu471Lys",
"transcript": "ENST00000925101.1",
"protein_id": "ENSP00000595160.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 684,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925101.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Glu454Lys",
"transcript": "ENST00000874455.1",
"protein_id": "ENSP00000544514.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 667,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874455.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.*146G>A",
"hgvs_p": null,
"transcript": "ENST00000426902.5",
"protein_id": "ENSP00000395636.1",
"transcript_support_level": 2,
"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": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426902.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PIK3R2",
"gene_hgnc_id": 8980,
"hgvs_c": "n.10G>A",
"hgvs_p": null,
"transcript": "ENST00000464016.3",
"protein_id": "ENSP00000476825.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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{
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"verdict": "Likely_benign",
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"effects": [
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{
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],
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}