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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: 9-128632896-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128632896&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128632896,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000372739.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7249G>A",
"hgvs_p": "p.Ala2417Thr",
"transcript": "NM_001130438.3",
"protein_id": "NP_001123910.1",
"transcript_support_level": null,
"aa_start": 2417,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7249,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7362,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": "ENST00000372739.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7249G>A",
"hgvs_p": "p.Ala2417Thr",
"transcript": "ENST00000372739.7",
"protein_id": "ENSP00000361824.4",
"transcript_support_level": 1,
"aa_start": 2417,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7249,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7362,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": "NM_001130438.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7234G>A",
"hgvs_p": "p.Ala2412Thr",
"transcript": "ENST00000372731.8",
"protein_id": "ENSP00000361816.4",
"transcript_support_level": 1,
"aa_start": 2412,
"aa_end": null,
"aa_length": 2472,
"cds_start": 7234,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 7376,
"cdna_end": null,
"cdna_length": 7889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7174G>A",
"hgvs_p": "p.Ala2392Thr",
"transcript": "ENST00000358161.9",
"protein_id": "ENSP00000350882.6",
"transcript_support_level": 1,
"aa_start": 2392,
"aa_end": null,
"aa_length": 2452,
"cds_start": 7174,
"cds_end": null,
"cds_length": 7359,
"cdna_start": 7281,
"cdna_end": null,
"cdna_length": 7794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7348G>A",
"hgvs_p": "p.Ala2450Thr",
"transcript": "NM_001375318.1",
"protein_id": "NP_001362247.1",
"transcript_support_level": null,
"aa_start": 2450,
"aa_end": null,
"aa_length": 2510,
"cds_start": 7348,
"cds_end": null,
"cds_length": 7533,
"cdna_start": 8091,
"cdna_end": null,
"cdna_length": 8604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7336G>A",
"hgvs_p": "p.Ala2446Thr",
"transcript": "NM_001375310.1",
"protein_id": "NP_001362239.1",
"transcript_support_level": null,
"aa_start": 2446,
"aa_end": null,
"aa_length": 2506,
"cds_start": 7336,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7449,
"cdna_end": null,
"cdna_length": 7962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7336G>A",
"hgvs_p": "p.Ala2446Thr",
"transcript": "ENST00000704202.1",
"protein_id": "ENSP00000515764.1",
"transcript_support_level": null,
"aa_start": 2446,
"aa_end": null,
"aa_length": 2506,
"cds_start": 7336,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7446,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7312G>A",
"hgvs_p": "p.Ala2438Thr",
"transcript": "NM_001363759.2",
"protein_id": "NP_001350688.1",
"transcript_support_level": null,
"aa_start": 2438,
"aa_end": null,
"aa_length": 2498,
"cds_start": 7312,
"cds_end": null,
"cds_length": 7497,
"cdna_start": 7425,
"cdna_end": null,
"cdna_length": 7938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7312G>A",
"hgvs_p": "p.Ala2438Thr",
"transcript": "ENST00000630866.2",
"protein_id": "ENSP00000487444.1",
"transcript_support_level": 5,
"aa_start": 2438,
"aa_end": null,
"aa_length": 2498,
"cds_start": 7312,
"cds_end": null,
"cds_length": 7497,
"cdna_start": 7422,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7297G>A",
"hgvs_p": "p.Ala2433Thr",
"transcript": "NM_001438445.1",
"protein_id": "NP_001425374.1",
"transcript_support_level": null,
"aa_start": 2433,
"aa_end": null,
"aa_length": 2493,
"cds_start": 7297,
"cds_end": null,
"cds_length": 7482,
"cdna_start": 7410,
"cdna_end": null,
"cdna_length": 7923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7285G>A",
"hgvs_p": "p.Ala2429Thr",
"transcript": "NM_001375312.2",
"protein_id": "NP_001362241.2",
"transcript_support_level": null,
"aa_start": 2429,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7285,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 8028,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7285G>A",
"hgvs_p": "p.Ala2429Thr",
"transcript": "NM_001438440.1",
"protein_id": "NP_001425369.1",
"transcript_support_level": null,
"aa_start": 2429,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7285,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7413,
"cdna_end": null,
"cdna_length": 7926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7285G>A",
"hgvs_p": "p.Ala2429Thr",
"transcript": "ENST00000627441.3",
"protein_id": "ENSP00000486547.2",
"transcript_support_level": 2,
"aa_start": 2429,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7285,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7410,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7285G>A",
"hgvs_p": "p.Ala2429Thr",
"transcript": "ENST00000704203.1",
"protein_id": "ENSP00000515765.1",
"transcript_support_level": null,
"aa_start": 2429,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7285,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7779,
"cdna_end": null,
"cdna_length": 8229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7249G>A",
"hgvs_p": "p.Ala2417Thr",
"transcript": "NM_001375311.2",
"protein_id": "NP_001362240.1",
"transcript_support_level": null,
"aa_start": 2417,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7249,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7977,
"cdna_end": null,
"cdna_length": 8490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7249G>A",
"hgvs_p": "p.Ala2417Thr",
"transcript": "ENST00000706487.1",
"protein_id": "ENSP00000516412.1",
"transcript_support_level": null,
"aa_start": 2417,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7249,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7425,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7237G>A",
"hgvs_p": "p.Ala2413Thr",
"transcript": "NM_001438444.1",
"protein_id": "NP_001425373.1",
"transcript_support_level": null,
"aa_start": 2413,
"aa_end": null,
"aa_length": 2473,
"cds_start": 7237,
"cds_end": null,
"cds_length": 7422,
"cdna_start": 7350,
"cdna_end": null,
"cdna_length": 7863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7234G>A",
"hgvs_p": "p.Ala2412Thr",
"transcript": "NM_003127.4",
"protein_id": "NP_003118.2",
"transcript_support_level": null,
"aa_start": 2412,
"aa_end": null,
"aa_length": 2472,
"cds_start": 7234,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 7347,
"cdna_end": null,
"cdna_length": 7860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7231G>A",
"hgvs_p": "p.Ala2411Thr",
"transcript": "NM_001375313.1",
"protein_id": "NP_001362242.1",
"transcript_support_level": null,
"aa_start": 2411,
"aa_end": null,
"aa_length": 2471,
"cds_start": 7231,
"cds_end": null,
"cds_length": 7416,
"cdna_start": 7344,
"cdna_end": null,
"cdna_length": 7857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7216G>A",
"hgvs_p": "p.Ala2406Thr",
"transcript": "NM_001438443.1",
"protein_id": "NP_001425372.1",
"transcript_support_level": null,
"aa_start": 2406,
"aa_end": null,
"aa_length": 2466,
"cds_start": 7216,
"cds_end": null,
"cds_length": 7401,
"cdna_start": 7329,
"cdna_end": null,
"cdna_length": 7842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7189G>A",
"hgvs_p": "p.Ala2397Thr",
"transcript": "NM_001363765.2",
"protein_id": "NP_001350694.1",
"transcript_support_level": null,
"aa_start": 2397,
"aa_end": null,
"aa_length": 2457,
"cds_start": 7189,
"cds_end": null,
"cds_length": 7374,
"cdna_start": 7302,
"cdna_end": null,
"cdna_length": 7815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7189G>A",
"hgvs_p": "p.Ala2397Thr",
"transcript": "NM_001375314.2",
"protein_id": "NP_001362243.1",
"transcript_support_level": null,
"aa_start": 2397,
"aa_end": null,
"aa_length": 2457,
"cds_start": 7189,
"cds_end": null,
"cds_length": 7374,
"cdna_start": 7917,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
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"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.*1743G>A",
"hgvs_p": null,
"transcript": "ENST00000704207.1",
"protein_id": "ENSP00000515769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"dbsnp": "rs143739246",
"frequency_reference_population": 0.0000013684383,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136844,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7674509286880493,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.446,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.967,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.356,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000372739.7",
"gene_symbol": "SPTAN1",
"hgnc_id": 11273,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7249G>A",
"hgvs_p": "p.Ala2417Thr"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}