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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: 2-40115488-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=40115488&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 40115488,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021097.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "NM_021097.5",
"protein_id": "NP_066920.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000332839.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021097.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000332839.9",
"protein_id": "ENSP00000332931.4",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021097.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332839.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000403092.5",
"protein_id": "ENSP00000384763.1",
"transcript_support_level": 1,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403092.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2672A>G",
"hgvs_p": "p.Asn891Ser",
"transcript": "ENST00000405901.7",
"protein_id": "ENSP00000385678.3",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 968,
"cds_start": 2672,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405901.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2603A>G",
"hgvs_p": "p.Asn868Ser",
"transcript": "ENST00000417271.2",
"protein_id": "ENSP00000412560.2",
"transcript_support_level": 1,
"aa_start": 868,
"aa_end": null,
"aa_length": 945,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417271.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2579A>G",
"hgvs_p": "p.Asn860Ser",
"transcript": "ENST00000406391.2",
"protein_id": "ENSP00000385811.2",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 937,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406391.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2579A>G",
"hgvs_p": "p.Asn860Ser",
"transcript": "ENST00000406785.7",
"protein_id": "ENSP00000383886.1",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 937,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406785.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "NM_001372263.2",
"protein_id": "NP_001359192.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372263.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "NM_001394103.1",
"protein_id": "NP_001381032.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394103.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000952074.1",
"protein_id": "ENSP00000622133.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952074.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000952075.1",
"protein_id": "ENSP00000622134.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952075.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000952081.1",
"protein_id": "ENSP00000622140.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952081.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000952083.1",
"protein_id": "ENSP00000622142.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952083.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000952084.1",
"protein_id": "ENSP00000622143.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952084.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000952088.1",
"protein_id": "ENSP00000622147.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952088.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000952089.1",
"protein_id": "ENSP00000622148.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952089.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000952090.1",
"protein_id": "ENSP00000622149.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952090.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000952091.1",
"protein_id": "ENSP00000622150.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 973,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952091.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2684A>G",
"hgvs_p": "p.Asn895Ser",
"transcript": "ENST00000952079.1",
"protein_id": "ENSP00000622138.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 972,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952079.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2684A>G",
"hgvs_p": "p.Asn895Ser",
"transcript": "ENST00000952086.1",
"protein_id": "ENSP00000622145.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 972,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952086.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2684A>G",
"hgvs_p": "p.Asn895Ser",
"transcript": "ENST00000952087.1",
"protein_id": "ENSP00000622146.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 972,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952087.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC8A1",
"gene_hgnc_id": 11068,
"hgvs_c": "c.2672A>G",
"hgvs_p": "p.Asn891Ser",
"transcript": "NM_001112800.4",
"protein_id": "NP_001106271.1",
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"inheritance_mode": "AD",
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000435515.5",
"gene_symbol": "SLC8A1-AS1",
"hgnc_id": 44102,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.125+335T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}