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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: 16-288189-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=288189&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 288189,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003502.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2522G>A",
"hgvs_p": "p.Arg841Gln",
"transcript": "NM_003502.4",
"protein_id": "NP_003493.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 862,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262320.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003502.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2522G>A",
"hgvs_p": "p.Arg841Gln",
"transcript": "ENST00000262320.8",
"protein_id": "ENSP00000262320.3",
"transcript_support_level": 1,
"aa_start": 841,
"aa_end": null,
"aa_length": 862,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003502.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262320.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2414G>A",
"hgvs_p": "p.Arg805Gln",
"transcript": "ENST00000354866.7",
"protein_id": "ENSP00000346935.3",
"transcript_support_level": 1,
"aa_start": 805,
"aa_end": null,
"aa_length": 826,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354866.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2537G>A",
"hgvs_p": "p.Arg846Gln",
"transcript": "ENST00000957925.1",
"protein_id": "ENSP00000627984.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 867,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957925.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2519G>A",
"hgvs_p": "p.Arg840Gln",
"transcript": "ENST00000911683.1",
"protein_id": "ENSP00000581742.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 861,
"cds_start": 2519,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911683.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2429G>A",
"hgvs_p": "p.Arg810Gln",
"transcript": "ENST00000911684.1",
"protein_id": "ENSP00000581743.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 831,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911684.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2414G>A",
"hgvs_p": "p.Arg805Gln",
"transcript": "NM_181050.3",
"protein_id": "NP_851393.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 826,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181050.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2408G>A",
"hgvs_p": "p.Arg803Gln",
"transcript": "ENST00000911685.1",
"protein_id": "ENSP00000581744.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 824,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911685.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2384G>A",
"hgvs_p": "p.Arg795Gln",
"transcript": "ENST00000957926.1",
"protein_id": "ENSP00000627985.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 816,
"cds_start": 2384,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957926.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2273G>A",
"hgvs_p": "p.Arg758Gln",
"transcript": "ENST00000957927.1",
"protein_id": "ENSP00000627986.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 779,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957927.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2243G>A",
"hgvs_p": "p.Arg748Gln",
"transcript": "ENST00000911686.1",
"protein_id": "ENSP00000581745.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 769,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911686.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2684G>A",
"hgvs_p": "p.Arg895Gln",
"transcript": "XM_011522682.3",
"protein_id": "XP_011520984.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 916,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522682.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.2576G>A",
"hgvs_p": "p.Arg859Gln",
"transcript": "XM_011522683.3",
"protein_id": "XP_011520985.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 880,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522683.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561Gln",
"transcript": "XM_017023745.3",
"protein_id": "XP_016879234.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 582,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023745.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560Gln",
"transcript": "XM_011522686.1",
"protein_id": "XP_011520988.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 581,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522686.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Arg555Gln",
"transcript": "XM_047434731.1",
"protein_id": "XP_047290687.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 576,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434731.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1556G>A",
"hgvs_p": "p.Arg519Gln",
"transcript": "XM_047434732.1",
"protein_id": "XP_047290688.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 540,
"cds_start": 1556,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434732.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Arg491Gln",
"transcript": "XM_017023746.2",
"protein_id": "XP_016879235.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 512,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023746.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "n.5591G>A",
"hgvs_p": null,
"transcript": "ENST00000461023.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461023.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "n.2753G>A",
"hgvs_p": null,
"transcript": "NR_134879.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134879.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"hgvs_c": "c.*27G>A",
"hgvs_p": null,
"transcript": "ENST00000457798.1",
"protein_id": "ENSP00000416835.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457798.1"
}
],
"gene_symbol": "AXIN1",
"gene_hgnc_id": 903,
"dbsnp": "rs34015754",
"frequency_reference_population": 0.009126818,
"hom_count_reference_population": 110,
"allele_count_reference_population": 14728,
"gnomad_exomes_af": 0.00926656,
"gnomad_genomes_af": 0.00778614,
"gnomad_exomes_ac": 13542,
"gnomad_genomes_ac": 1186,
"gnomad_exomes_homalt": 99,
"gnomad_genomes_homalt": 11,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004774689674377441,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.1026,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.869,
"phylop100way_prediction": "Uncertain_significance",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003502.4",
"gene_symbol": "AXIN1",
"hgnc_id": 903,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2522G>A",
"hgvs_p": "p.Arg841Gln"
}
],
"clinvar_disease": "Caudal duplication,Hepatocellular carcinoma,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not provided|Caudal duplication;Hepatocellular carcinoma",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}