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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: 5-65225010-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=65225010&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 65225010,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_197941.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Lys",
"transcript": "NM_197941.4",
"protein_id": "NP_922932.2",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381055.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_197941.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Lys",
"transcript": "ENST00000381055.8",
"protein_id": "ENSP00000370443.3",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_197941.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381055.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.1984G>A",
"hgvs_p": null,
"transcript": "ENST00000470597.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000470597.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Lys",
"transcript": "XM_011543113.4",
"protein_id": "XP_011541415.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543113.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Lys",
"transcript": "XM_011543114.4",
"protein_id": "XP_011541416.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1117,
"cds_start": 2105,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543114.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.1955G>A",
"hgvs_p": "p.Arg652Lys",
"transcript": "XM_047416675.1",
"protein_id": "XP_047272631.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 1067,
"cds_start": 1955,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416675.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.1652G>A",
"hgvs_p": "p.Arg551Lys",
"transcript": "XM_011543117.3",
"protein_id": "XP_011541419.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 966,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543117.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Lys",
"transcript": "XM_047416676.1",
"protein_id": "XP_047272632.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 892,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416676.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450Lys",
"transcript": "XM_011543121.3",
"protein_id": "XP_011541423.3",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 865,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543121.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Lys",
"transcript": "XM_047416677.1",
"protein_id": "XP_047272633.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 827,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416677.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323Lys",
"transcript": "XM_011543123.3",
"protein_id": "XP_011541425.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 738,
"cds_start": 968,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543123.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Arg258Lys",
"transcript": "XM_011543124.3",
"protein_id": "XP_011541426.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 673,
"cds_start": 773,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543124.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213Lys",
"transcript": "XM_011543125.2",
"protein_id": "XP_011541427.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 628,
"cds_start": 638,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543125.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.*1377G>A",
"hgvs_p": null,
"transcript": "ENST00000381052.8",
"protein_id": "ENSP00000424377.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000381052.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.2123G>A",
"hgvs_p": null,
"transcript": "ENST00000464680.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000464680.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.3113G>A",
"hgvs_p": null,
"transcript": "NR_135689.2",
"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_135689.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.2557G>A",
"hgvs_p": null,
"transcript": "XR_007058575.1",
"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": "XR_007058575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.*1377G>A",
"hgvs_p": null,
"transcript": "ENST00000381052.8",
"protein_id": "ENSP00000424377.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000381052.8"
}
],
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"dbsnp": "rs780009571",
"frequency_reference_population": 0.0000043371742,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410443,
"gnomad_genomes_af": 0.00000657376,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024904340505599976,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.0621,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.891,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_197941.4",
"gene_symbol": "ADAMTS6",
"hgnc_id": 222,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}