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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: 1-23431757-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23431757&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ASAP3",
"hgnc_id": 14987,
"hgvs_c": "c.2485T>A",
"hgvs_p": "p.Ser829Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_017707.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0672,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08103424310684204,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 903,
"aa_ref": "S",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 2531,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2485,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_017707.4",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2485T>A",
"hgvs_p": "p.Ser829Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336689.8",
"protein_coding": true,
"protein_id": "NP_060177.2",
"strand": false,
"transcript": "NM_017707.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 903,
"aa_ref": "S",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 2531,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2485,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000336689.8",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2485T>A",
"hgvs_p": "p.Ser829Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017707.4",
"protein_coding": true,
"protein_id": "ENSP00000338769.3",
"strand": false,
"transcript": "ENST00000336689.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 926,
"aa_ref": "S",
"aa_start": 852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4172,
"cdna_start": 2654,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2554,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000948796.1",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2554T>A",
"hgvs_p": "p.Ser852Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618855.1",
"strand": false,
"transcript": "ENST00000948796.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 924,
"aa_ref": "S",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4164,
"cdna_start": 2644,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2548,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000857995.1",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2548T>A",
"hgvs_p": "p.Ser850Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528054.1",
"strand": false,
"transcript": "ENST00000857995.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 899,
"aa_ref": "S",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4036,
"cdna_start": 2519,
"cds_end": null,
"cds_length": 2700,
"cds_start": 2473,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000857997.1",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2473T>A",
"hgvs_p": "p.Ser825Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528056.1",
"strand": false,
"transcript": "ENST00000857997.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 894,
"aa_ref": "S",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": 2504,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2458,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001143778.2",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2458T>A",
"hgvs_p": "p.Ser820Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137250.1",
"strand": false,
"transcript": "NM_001143778.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 894,
"aa_ref": "S",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2865,
"cdna_start": 2504,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2458,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000437606.6",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2458T>A",
"hgvs_p": "p.Ser820Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408826.2",
"strand": false,
"transcript": "ENST00000437606.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 888,
"aa_ref": "S",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 2667,
"cds_start": 2440,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000948797.1",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2440T>A",
"hgvs_p": "p.Ser814Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618856.1",
"strand": false,
"transcript": "ENST00000948797.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 886,
"aa_ref": "S",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4050,
"cdna_start": 2530,
"cds_end": null,
"cds_length": 2661,
"cds_start": 2434,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000857996.1",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2434T>A",
"hgvs_p": "p.Ser812Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528055.1",
"strand": false,
"transcript": "ENST00000857996.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 859,
"aa_ref": "S",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3947,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2353,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000931115.1",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2353T>A",
"hgvs_p": "p.Ser785Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601174.1",
"strand": false,
"transcript": "ENST00000931115.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 779,
"aa_ref": "S",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000948795.1",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2113T>A",
"hgvs_p": "p.Ser705Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618854.1",
"strand": false,
"transcript": "ENST00000948795.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 772,
"aa_ref": "S",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3823,
"cdna_start": 2522,
"cds_end": null,
"cds_length": 2319,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000711427.1",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2092T>A",
"hgvs_p": "p.Ser698Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518744.1",
"strand": false,
"transcript": "ENST00000711427.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 461,
"aa_ref": "S",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000465372.6",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.1159T>A",
"hgvs_p": "p.Ser387Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435394.2",
"strand": false,
"transcript": "ENST00000465372.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 407,
"aa_ref": "S",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1224,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000495646.5",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.997T>A",
"hgvs_p": "p.Ser333Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436150.1",
"strand": false,
"transcript": "ENST00000495646.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 926,
"aa_ref": "S",
"aa_start": 852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4120,
"cdna_start": 2600,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2554,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011541755.3",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2554T>A",
"hgvs_p": "p.Ser852Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540057.1",
"strand": false,
"transcript": "XM_011541755.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 924,
"aa_ref": "S",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4114,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2548,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017001685.3",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2548T>A",
"hgvs_p": "p.Ser850Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857174.1",
"strand": false,
"transcript": "XM_017001685.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 905,
"aa_ref": "S",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4057,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 2718,
"cds_start": 2491,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017001686.3",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2491T>A",
"hgvs_p": "p.Ser831Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857175.1",
"strand": false,
"transcript": "XM_017001686.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 883,
"aa_ref": "S",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4036,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 2652,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017001687.1",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2425T>A",
"hgvs_p": "p.Ser809Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857176.1",
"strand": false,
"transcript": "XM_017001687.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 793,
"aa_ref": "S",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 2563,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017001688.3",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2155T>A",
"hgvs_p": "p.Ser719Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857177.1",
"strand": false,
"transcript": "XM_017001688.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 774,
"aa_ref": "S",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4026,
"cdna_start": 2506,
"cds_end": null,
"cds_length": 2325,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017001689.2",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2098T>A",
"hgvs_p": "p.Ser700Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857178.1",
"strand": false,
"transcript": "XM_017001689.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 772,
"aa_ref": "S",
"aa_start": 698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 2319,
"cds_start": 2092,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047424481.1",
"gene_hgnc_id": 14987,
"gene_symbol": "ASAP3",
"hgvs_c": "c.2092T>A",
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}