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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: 16-1338575-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1338575&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1338575,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003933.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "NM_001199097.2",
"protein_id": "NP_001186026.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1152,
"cds_start": 26,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": "ENST00000426824.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199097.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000426824.8",
"protein_id": "ENSP00000407242.4",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 1152,
"cds_start": 26,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": "NM_001199097.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426824.8"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Ser44Thr",
"transcript": "ENST00000324385.9",
"protein_id": "ENSP00000324510.5",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 1187,
"cds_start": 131,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324385.9"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000397488.6",
"protein_id": "ENSP00000380625.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 1169,
"cds_start": 26,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397488.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.131G>C",
"hgvs_p": "p.Ser44Thr",
"transcript": "NM_003933.5",
"protein_id": "NP_003924.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1187,
"cds_start": 131,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 4679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003933.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "NM_001286464.2",
"protein_id": "NP_001273393.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1169,
"cds_start": 26,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286464.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000858420.1",
"protein_id": "ENSP00000528479.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1169,
"cds_start": 26,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 52,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858420.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000956656.1",
"protein_id": "ENSP00000626715.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1169,
"cds_start": 26,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 4689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956656.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000956657.1",
"protein_id": "ENSP00000626716.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1169,
"cds_start": 26,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 75,
"cdna_end": null,
"cdna_length": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956657.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000858415.1",
"protein_id": "ENSP00000528474.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1152,
"cds_start": 26,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 4854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858415.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000858417.1",
"protein_id": "ENSP00000528476.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1152,
"cds_start": 26,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858417.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000858418.1",
"protein_id": "ENSP00000528477.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1152,
"cds_start": 26,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 103,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858418.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000858419.1",
"protein_id": "ENSP00000528478.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1152,
"cds_start": 26,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858419.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000711105.1",
"protein_id": "ENSP00000518584.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1131,
"cds_start": 26,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711105.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "NM_001199098.2",
"protein_id": "NP_001186027.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1129,
"cds_start": 26,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 4462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199098.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000562208.5",
"protein_id": "ENSP00000458134.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 1129,
"cds_start": 26,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562208.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "NM_001199099.2",
"protein_id": "NP_001186028.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1124,
"cds_start": 26,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199099.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000568887.5",
"protein_id": "ENSP00000457644.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 1124,
"cds_start": 26,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568887.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000858414.1",
"protein_id": "ENSP00000528473.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1121,
"cds_start": 26,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858414.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "NM_001199096.2",
"protein_id": "NP_001186025.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1116,
"cds_start": 26,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199096.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000421665.6",
"protein_id": "ENSP00000409533.2",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 1116,
"cds_start": 26,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421665.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAIAP3",
"gene_hgnc_id": 948,
"hgvs_c": "c.26G>C",
"hgvs_p": "p.Ser9Thr",
"transcript": "ENST00000858416.1",
"protein_id": "ENSP00000528475.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 1116,
"cds_start": 26,
"cds_end": null,
"cds_length": 3351,
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"bayesdelnoaf_score": -0.17,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}