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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: X-20177027-CATTCGTAAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20177027&ref=CATTCGTAAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 20177027,
"ref": "CATTCGTAAA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_004586.3",
"consequences": [
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.894_902delTTTACGAAT",
"hgvs_p": "p.Leu299_Met301del",
"transcript": "NM_004586.3",
"protein_id": "NP_004577.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 740,
"cds_start": 894,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379565.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004586.3"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.894_902delTTTACGAAT",
"hgvs_p": "p.Leu299_Met301del",
"transcript": "ENST00000379565.9",
"protein_id": "ENSP00000368884.3",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 740,
"cds_start": 894,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004586.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379565.9"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.942_950delTTTACGAAT",
"hgvs_p": "p.Leu315_Met317del",
"transcript": "ENST00000952699.1",
"protein_id": "ENSP00000622758.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 756,
"cds_start": 942,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952699.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.894_902delTTTACGAAT",
"hgvs_p": "p.Leu299_Met301del",
"transcript": "ENST00000916293.1",
"protein_id": "ENSP00000586352.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 746,
"cds_start": 894,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916293.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.894_902delTTTACGAAT",
"hgvs_p": "p.Leu299_Met301del",
"transcript": "ENST00000952703.1",
"protein_id": "ENSP00000622762.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 745,
"cds_start": 894,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952703.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.894_902delTTTACGAAT",
"hgvs_p": "p.Leu299_Met301del",
"transcript": "ENST00000952700.1",
"protein_id": "ENSP00000622759.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 742,
"cds_start": 894,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952700.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.894_902delTTTACGAAT",
"hgvs_p": "p.Leu299_Met301del",
"transcript": "ENST00000916295.1",
"protein_id": "ENSP00000586354.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 738,
"cds_start": 894,
"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": "ENST00000916295.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.894_902delTTTACGAAT",
"hgvs_p": "p.Leu299_Met301del",
"transcript": "ENST00000916291.1",
"protein_id": "ENSP00000586350.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 737,
"cds_start": 894,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916291.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.837_845delTTTACGAAT",
"hgvs_p": "p.Leu280_Met282del",
"transcript": "ENST00000952702.1",
"protein_id": "ENSP00000622761.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 727,
"cds_start": 837,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952702.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.837_845delTTTACGAAT",
"hgvs_p": "p.Leu280_Met282del",
"transcript": "ENST00000916294.1",
"protein_id": "ENSP00000586353.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 721,
"cds_start": 837,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916294.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.813_821delTTTACGAAT",
"hgvs_p": "p.Leu272_Met274del",
"transcript": "ENST00000952698.1",
"protein_id": "ENSP00000622757.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 713,
"cds_start": 813,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952698.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.810_818delTTTACGAAT",
"hgvs_p": "p.Leu271_Met273del",
"transcript": "NM_001438340.1",
"protein_id": "NP_001425269.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 712,
"cds_start": 810,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438340.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.810_818delTTTACGAAT",
"hgvs_p": "p.Leu271_Met273del",
"transcript": "ENST00000642835.1",
"protein_id": "ENSP00000494769.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 712,
"cds_start": 810,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642835.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.810_818delTTTACGAAT",
"hgvs_p": "p.Leu271_Met273del",
"transcript": "ENST00000643085.1",
"protein_id": "ENSP00000496271.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 712,
"cds_start": 810,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643085.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.810_818delTTTACGAAT",
"hgvs_p": "p.Leu271_Met273del",
"transcript": "ENST00000643337.1",
"protein_id": "ENSP00000493487.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 712,
"cds_start": 810,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643337.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.810_818delTTTACGAAT",
"hgvs_p": "p.Leu271_Met273del",
"transcript": "ENST00000643402.1",
"protein_id": "ENSP00000493862.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 712,
"cds_start": 810,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643402.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.810_818delTTTACGAAT",
"hgvs_p": "p.Leu271_Met273del",
"transcript": "ENST00000644368.1",
"protein_id": "ENSP00000495776.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 712,
"cds_start": 810,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644368.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.810_818delTTTACGAAT",
"hgvs_p": "p.Leu271_Met273del",
"transcript": "ENST00000645270.1",
"protein_id": "ENSP00000494967.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 712,
"cds_start": 810,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645270.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.810_818delTTTACGAAT",
"hgvs_p": "p.Leu271_Met273del",
"transcript": "ENST00000646610.1",
"protein_id": "ENSP00000495462.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 712,
"cds_start": 810,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646610.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.810_818delTTTACGAAT",
"hgvs_p": "p.Leu271_Met273del",
"transcript": "ENST00000647265.1",
"protein_id": "ENSP00000494220.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 712,
"cds_start": 810,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647265.1"
},
{
"aa_ref": "LLRM",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.807_815delTTTACGAAT",
"hgvs_p": "p.Leu270_Met272del",
"transcript": "ENST00000457145.6",
"protein_id": "ENSP00000407655.2",
"transcript_support_level": 2,
"aa_start": 269,
"aa_end": null,
"aa_length": 711,
"cds_start": 807,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"feature": "ENST00000645268.1"
}
],
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"dbsnp": "rs1555933769",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4,PP3",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PM4",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004586.3",
"gene_symbol": "RPS6KA3",
"hgnc_id": 10432,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,XL",
"hgvs_c": "c.894_902delTTTACGAAT",
"hgvs_p": "p.Leu299_Met301del"
}
],
"clinvar_disease": "Coffin-Lowry syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Coffin-Lowry syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}