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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: 16-288224-GTC-ATA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=288224&ref=GTC&alt=ATA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "AXIN1",
"hgnc_id": 903,
"hgvs_c": "c.2485_2487delGACinsTAT",
"hgvs_p": "p.Asp829Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003502.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ATA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": 2923,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2485,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003502.4",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2485_2487delGACinsTAT",
"hgvs_p": "p.Asp829Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262320.8",
"protein_coding": true,
"protein_id": "NP_003493.1",
"strand": false,
"transcript": "NM_003502.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 862,
"aa_ref": "D",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": 2923,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2485,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262320.8",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2485_2487delGACinsTAT",
"hgvs_p": "p.Asp829Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003502.4",
"protein_coding": true,
"protein_id": "ENSP00000262320.3",
"strand": false,
"transcript": "ENST00000262320.8",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 826,
"aa_ref": "D",
"aa_start": 793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2377,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354866.7",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2377_2379delGACinsTAT",
"hgvs_p": "p.Asp793Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346935.3",
"strand": false,
"transcript": "ENST00000354866.7",
"transcript_support_level": 1
},
{
"aa_alt": "L*",
"aa_end": null,
"aa_length": 101,
"aa_ref": "RR",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 334,
"cdna_start": 300,
"cds_end": null,
"cds_length": 306,
"cds_start": 296,
"consequences": [
"stop_gained"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457798.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.296_298delGACinsTAT",
"hgvs_p": "p.ArgArg99*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416835.1",
"strand": false,
"transcript": "ENST00000457798.1",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 867,
"aa_ref": "D",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 2945,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2500,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957925.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2500_2502delGACinsTAT",
"hgvs_p": "p.Asp834Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627984.1",
"strand": false,
"transcript": "ENST00000957925.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 861,
"aa_ref": "D",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 2921,
"cds_end": null,
"cds_length": 2586,
"cds_start": 2482,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911683.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2482_2484delGACinsTAT",
"hgvs_p": "p.Asp828Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581742.1",
"strand": false,
"transcript": "ENST00000911683.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "D",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 2795,
"cds_end": null,
"cds_length": 2496,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911684.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2392_2394delGACinsTAT",
"hgvs_p": "p.Asp798Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581743.1",
"strand": false,
"transcript": "ENST00000911684.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 826,
"aa_ref": "D",
"aa_start": 793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 2815,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2377,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_181050.3",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2377_2379delGACinsTAT",
"hgvs_p": "p.Asp793Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_851393.1",
"strand": false,
"transcript": "NM_181050.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 824,
"aa_ref": "D",
"aa_start": 791,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 2766,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2371,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911685.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2371_2373delGACinsTAT",
"hgvs_p": "p.Asp791Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581744.1",
"strand": false,
"transcript": "ENST00000911685.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 816,
"aa_ref": "D",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 2743,
"cds_end": null,
"cds_length": 2451,
"cds_start": 2347,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957926.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2347_2349delGACinsTAT",
"hgvs_p": "p.Asp783Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627985.1",
"strand": false,
"transcript": "ENST00000957926.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 779,
"aa_ref": "D",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 2612,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2236,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957927.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2236_2238delGACinsTAT",
"hgvs_p": "p.Asp746Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627986.1",
"strand": false,
"transcript": "ENST00000957927.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2598,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2206,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911686.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2206_2208delGACinsTAT",
"hgvs_p": "p.Asp736Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581745.1",
"strand": false,
"transcript": "ENST00000911686.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 916,
"aa_ref": "D",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 2938,
"cds_end": null,
"cds_length": 2751,
"cds_start": 2647,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522682.3",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2647_2649delGACinsTAT",
"hgvs_p": "p.Asp883Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520984.1",
"strand": false,
"transcript": "XM_011522682.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 880,
"aa_ref": "D",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3614,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2539,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522683.3",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.2539_2541delGACinsTAT",
"hgvs_p": "p.Asp847Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520985.1",
"strand": false,
"transcript": "XM_011522683.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 582,
"aa_ref": "D",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1645,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017023745.3",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.1645_1647delGACinsTAT",
"hgvs_p": "p.Asp549Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879234.1",
"strand": false,
"transcript": "XM_017023745.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 581,
"aa_ref": "D",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1642,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522686.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.1642_1644delGACinsTAT",
"hgvs_p": "p.Asp548Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520988.1",
"strand": false,
"transcript": "XM_011522686.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 576,
"aa_ref": "D",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1627,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434731.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.1627_1629delGACinsTAT",
"hgvs_p": "p.Asp543Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290687.1",
"strand": false,
"transcript": "XM_047434731.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 540,
"aa_ref": "D",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 2600,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1519,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434732.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.1519_1521delGACinsTAT",
"hgvs_p": "p.Asp507Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290688.1",
"strand": false,
"transcript": "XM_047434732.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 512,
"aa_ref": "D",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 2492,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1435,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017023746.2",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.1435_1437delGACinsTAT",
"hgvs_p": "p.Asp479Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879235.1",
"strand": false,
"transcript": "XM_017023746.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000461023.5",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "n.5554_5556delGACinsTAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461023.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_134879.2",
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