← Back to variant description
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: 16-288230-CAC-TAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=288230&ref=CAC&alt=TAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AXIN1",
"hgnc_id": 903,
"hgvs_c": "c.2479_2481delGTGinsTTA",
"hgvs_p": "p.Val827Leu",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_003502.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAA",
"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": "L",
"aa_end": null,
"aa_length": 862,
"aa_ref": "V",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": 2917,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2479,
"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.2479_2481delGTGinsTTA",
"hgvs_p": "p.Val827Leu",
"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": "L",
"aa_end": null,
"aa_length": 862,
"aa_ref": "V",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": 2917,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2479,
"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.2479_2481delGTGinsTTA",
"hgvs_p": "p.Val827Leu",
"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": "L",
"aa_end": null,
"aa_length": 826,
"aa_ref": "V",
"aa_start": 791,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": 2535,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2371,
"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.2371_2373delGTGinsTTA",
"hgvs_p": "p.Val791Leu",
"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": 867,
"aa_ref": "V",
"aa_start": 832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 2939,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2494,
"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.2494_2496delGTGinsTTA",
"hgvs_p": "p.Val832Leu",
"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": "L",
"aa_end": null,
"aa_length": 861,
"aa_ref": "V",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 2915,
"cds_end": null,
"cds_length": 2586,
"cds_start": 2476,
"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.2476_2478delGTGinsTTA",
"hgvs_p": "p.Val826Leu",
"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": "L",
"aa_end": null,
"aa_length": 831,
"aa_ref": "V",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3579,
"cdna_start": 2789,
"cds_end": null,
"cds_length": 2496,
"cds_start": 2386,
"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.2386_2388delGTGinsTTA",
"hgvs_p": "p.Val796Leu",
"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": "L",
"aa_end": null,
"aa_length": 826,
"aa_ref": "V",
"aa_start": 791,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 2809,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2371,
"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.2371_2373delGTGinsTTA",
"hgvs_p": "p.Val791Leu",
"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": "L",
"aa_end": null,
"aa_length": 824,
"aa_ref": "V",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2365,
"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.2365_2367delGTGinsTTA",
"hgvs_p": "p.Val789Leu",
"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": "L",
"aa_end": null,
"aa_length": 816,
"aa_ref": "V",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 2737,
"cds_end": null,
"cds_length": 2451,
"cds_start": 2341,
"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.2341_2343delGTGinsTTA",
"hgvs_p": "p.Val781Leu",
"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": "L",
"aa_end": null,
"aa_length": 779,
"aa_ref": "V",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 2606,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2230,
"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.2230_2232delGTGinsTTA",
"hgvs_p": "p.Val744Leu",
"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": "L",
"aa_end": null,
"aa_length": 769,
"aa_ref": "V",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2200,
"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.2200_2202delGTGinsTTA",
"hgvs_p": "p.Val734Leu",
"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": "IK",
"aa_end": null,
"aa_length": 101,
"aa_ref": "SE",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 334,
"cdna_start": 294,
"cds_end": null,
"cds_length": 306,
"cds_start": 290,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457798.1",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "c.290_292delGTGinsTTA",
"hgvs_p": "p.SerGlu97IleLys",
"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": "L",
"aa_end": null,
"aa_length": 916,
"aa_ref": "V",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 2932,
"cds_end": null,
"cds_length": 2751,
"cds_start": 2641,
"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.2641_2643delGTGinsTTA",
"hgvs_p": "p.Val881Leu",
"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": "L",
"aa_end": null,
"aa_length": 880,
"aa_ref": "V",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3614,
"cdna_start": 2824,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2533,
"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.2533_2535delGTGinsTTA",
"hgvs_p": "p.Val845Leu",
"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": "L",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1639,
"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.1639_1641delGTGinsTTA",
"hgvs_p": "p.Val547Leu",
"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": "L",
"aa_end": null,
"aa_length": 581,
"aa_ref": "V",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1636,
"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.1636_1638delGTGinsTTA",
"hgvs_p": "p.Val546Leu",
"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": "L",
"aa_end": null,
"aa_length": 576,
"aa_ref": "V",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1621,
"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.1621_1623delGTGinsTTA",
"hgvs_p": "p.Val541Leu",
"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": "L",
"aa_end": null,
"aa_length": 540,
"aa_ref": "V",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1513,
"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.1513_1515delGTGinsTTA",
"hgvs_p": "p.Val505Leu",
"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": "L",
"aa_end": null,
"aa_length": 512,
"aa_ref": "V",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1429,
"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.1429_1431delGTGinsTTA",
"hgvs_p": "p.Val477Leu",
"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.5548_5550delGTGinsTTA",
"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",
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"hgvs_c": "n.2710_2712delGTGinsTTA",
"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": "NR_134879.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 903,
"gene_symbol": "AXIN1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.698,
"pos": 288230,
"ref": "CAC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_003502.4"
}
]
}