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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: 2-224001744-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=224001744&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 224001744,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001136530.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "NM_001136528.2",
"protein_id": "NP_001130000.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 397,
"cds_start": 157,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": "ENST00000409304.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136528.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000409304.6",
"protein_id": "ENSP00000386412.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 397,
"cds_start": 157,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": "NM_001136528.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409304.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000258405.9",
"protein_id": "ENSP00000258405.4",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 398,
"cds_start": 157,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258405.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000409840.7",
"protein_id": "ENSP00000386969.3",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 397,
"cds_start": 157,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409840.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000873015.1",
"protein_id": "ENSP00000543074.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 435,
"cds_start": 157,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873015.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000957707.1",
"protein_id": "ENSP00000627766.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 432,
"cds_start": 157,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957707.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Ile65Val",
"transcript": "NM_001136530.1",
"protein_id": "NP_001130002.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 409,
"cds_start": 193,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136530.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Ile65Val",
"transcript": "ENST00000447280.6",
"protein_id": "ENSP00000415786.2",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 409,
"cds_start": 193,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447280.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "NM_006216.4",
"protein_id": "NP_006207.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 398,
"cds_start": 157,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006216.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000873018.1",
"protein_id": "ENSP00000543077.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 398,
"cds_start": 157,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873018.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000957695.1",
"protein_id": "ENSP00000627754.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 398,
"cds_start": 157,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957695.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000957697.1",
"protein_id": "ENSP00000627756.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 398,
"cds_start": 157,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957697.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000957702.1",
"protein_id": "ENSP00000627761.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 398,
"cds_start": 157,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957702.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000957704.1",
"protein_id": "ENSP00000627763.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 398,
"cds_start": 157,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957704.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000957706.1",
"protein_id": "ENSP00000627765.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 398,
"cds_start": 157,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957706.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000873014.1",
"protein_id": "ENSP00000543073.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 397,
"cds_start": 157,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873014.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000873016.1",
"protein_id": "ENSP00000543075.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 397,
"cds_start": 157,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873016.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000873017.1",
"protein_id": "ENSP00000543076.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 397,
"cds_start": 157,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873017.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000873019.1",
"protein_id": "ENSP00000543078.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 397,
"cds_start": 157,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873019.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000931209.1",
"protein_id": "ENSP00000601268.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 397,
"cds_start": 157,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931209.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000931211.1",
"protein_id": "ENSP00000601270.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 397,
"cds_start": 157,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931211.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINE2",
"gene_hgnc_id": 8951,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Ile53Val",
"transcript": "ENST00000957694.1",
"protein_id": "ENSP00000627753.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 397,
"cds_start": 157,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 240,
"cdna_end": null,
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],
"verdict": "Benign",
"transcript": "NM_001136530.1",
"gene_symbol": "SERPINE2",
"hgnc_id": 8951,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Ile65Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}