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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: 5-65172894-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=65172894&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 65172894,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_197941.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.3025C>G",
"hgvs_p": "p.Arg1009Gly",
"transcript": "NM_197941.4",
"protein_id": "NP_922932.2",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3025,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3882,
"cdna_end": null,
"cdna_length": 7309,
"mane_select": "ENST00000381055.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_197941.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.3025C>G",
"hgvs_p": "p.Arg1009Gly",
"transcript": "ENST00000381055.8",
"protein_id": "ENSP00000370443.3",
"transcript_support_level": 1,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3025,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3882,
"cdna_end": null,
"cdna_length": 7309,
"mane_select": "NM_197941.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381055.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.3025C>G",
"hgvs_p": "p.Arg1009Gly",
"transcript": "XM_011543113.4",
"protein_id": "XP_011541415.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3025,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3899,
"cdna_end": null,
"cdna_length": 7326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543113.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.3025C>G",
"hgvs_p": "p.Arg1009Gly",
"transcript": "XM_011543114.4",
"protein_id": "XP_011541416.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3025,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3478,
"cdna_end": null,
"cdna_length": 6905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543114.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.2875C>G",
"hgvs_p": "p.Arg959Gly",
"transcript": "XM_047416675.1",
"protein_id": "XP_047272631.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416675.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.2572C>G",
"hgvs_p": "p.Arg858Gly",
"transcript": "XM_011543117.3",
"protein_id": "XP_011541419.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 966,
"cds_start": 2572,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543117.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.2269C>G",
"hgvs_p": "p.Arg757Gly",
"transcript": "XM_011543121.3",
"protein_id": "XP_011541423.3",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 865,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543121.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Arg630Gly",
"transcript": "XM_011543123.3",
"protein_id": "XP_011541425.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 738,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 5428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543123.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.1693C>G",
"hgvs_p": "p.Arg565Gly",
"transcript": "XM_011543124.3",
"protein_id": "XP_011541426.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 673,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 5212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543124.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "c.1558C>G",
"hgvs_p": "p.Arg520Gly",
"transcript": "XM_011543125.2",
"protein_id": "XP_011541427.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 628,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 5067,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.685C>G",
"hgvs_p": null,
"transcript": "ENST00000314351.9",
"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": 1322,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000314351.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.*2297C>G",
"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": 6956,
"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": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.4033C>G",
"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": 7460,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.*2297C>G",
"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": 6956,
"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": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.*46C>G",
"hgvs_p": null,
"transcript": "ENST00000417396.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 550,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000417396.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"hgvs_c": "n.*14C>G",
"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": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058575.1"
}
],
"gene_symbol": "ADAMTS6",
"gene_hgnc_id": 222,
"dbsnp": "rs555737820",
"frequency_reference_population": 0.00030170192,
"hom_count_reference_population": 0,
"allele_count_reference_population": 487,
"gnomad_exomes_af": 0.000324922,
"gnomad_genomes_af": 0.0000787991,
"gnomad_exomes_ac": 475,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6931877136230469,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.409,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4111,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.312,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_197941.4",
"gene_symbol": "ADAMTS6",
"hgnc_id": 222,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3025C>G",
"hgvs_p": "p.Arg1009Gly"
}
],
"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
}