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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: 1-225921220-CAGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225921220&ref=CAGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225921220,
"ref": "CAGG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_013328.4",
"consequences": [
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.782_784delCCT",
"hgvs_p": "p.Ser261del",
"transcript": "NM_013328.4",
"protein_id": "NP_037460.2",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 320,
"cds_start": 782,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343818.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013328.4"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.782_784delCCT",
"hgvs_p": "p.Ser261del",
"transcript": "ENST00000343818.11",
"protein_id": "ENSP00000342502.6",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 320,
"cds_start": 782,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013328.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343818.11"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255835",
"gene_hgnc_id": null,
"hgvs_c": "c.560_562delCCT",
"hgvs_p": "p.Ser187del",
"transcript": "ENST00000432920.2",
"protein_id": "ENSP00000414068.2",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 359,
"cds_start": 560,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432920.2"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.779_781delCCT",
"hgvs_p": "p.Ser260del",
"transcript": "ENST00000872062.1",
"protein_id": "ENSP00000542121.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 319,
"cds_start": 779,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872062.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.779_781delCCT",
"hgvs_p": "p.Ser260del",
"transcript": "ENST00000872065.1",
"protein_id": "ENSP00000542124.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 319,
"cds_start": 779,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872065.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.776_778delCCT",
"hgvs_p": "p.Ser259del",
"transcript": "ENST00000931949.1",
"protein_id": "ENSP00000602007.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 318,
"cds_start": 776,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931949.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.713_715delCCT",
"hgvs_p": "p.Ser238del",
"transcript": "ENST00000931947.1",
"protein_id": "ENSP00000602005.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 297,
"cds_start": 713,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931947.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.707_709delCCT",
"hgvs_p": "p.Ser236del",
"transcript": "ENST00000872071.1",
"protein_id": "ENSP00000542130.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 295,
"cds_start": 707,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872071.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.689_691delCCT",
"hgvs_p": "p.Ser230del",
"transcript": "ENST00000872063.1",
"protein_id": "ENSP00000542122.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 289,
"cds_start": 689,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872063.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.686_688delCCT",
"hgvs_p": "p.Ser229del",
"transcript": "ENST00000954487.1",
"protein_id": "ENSP00000624546.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 288,
"cds_start": 686,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954487.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.686_688delCCT",
"hgvs_p": "p.Ser229del",
"transcript": "ENST00000954488.1",
"protein_id": "ENSP00000624547.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 288,
"cds_start": 686,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954488.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.602_604delCCT",
"hgvs_p": "p.Ser201del",
"transcript": "ENST00000872068.1",
"protein_id": "ENSP00000542128.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 260,
"cds_start": 602,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872068.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.560_562delCCT",
"hgvs_p": "p.Ser187del",
"transcript": "NM_001271681.2",
"protein_id": "NP_001258610.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 246,
"cds_start": 560,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271681.2"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.560_562delCCT",
"hgvs_p": "p.Ser187del",
"transcript": "ENST00000612039.4",
"protein_id": "ENSP00000478165.1",
"transcript_support_level": 3,
"aa_start": 187,
"aa_end": null,
"aa_length": 246,
"cds_start": 560,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612039.4"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.467_469delCCT",
"hgvs_p": "p.Ser156del",
"transcript": "ENST00000872070.1",
"protein_id": "ENSP00000542129.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 215,
"cds_start": 467,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872070.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.380_382delCCT",
"hgvs_p": "p.Ser127del",
"transcript": "ENST00000872067.1",
"protein_id": "ENSP00000542125.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 186,
"cds_start": 380,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872067.1"
},
{
"aa_ref": "SC",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.287_289delCCT",
"hgvs_p": "p.Ser96del",
"transcript": "ENST00000931948.1",
"protein_id": "ENSP00000602006.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 155,
"cds_start": 287,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "n.1340_*1delCCT",
"hgvs_p": null,
"transcript": "ENST00000446534.1",
"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": "ENST00000446534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "n.499_501delCCT",
"hgvs_p": null,
"transcript": "ENST00000466127.1",
"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": "ENST00000466127.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "n.2391_2393delCCT",
"hgvs_p": null,
"transcript": "ENST00000478402.5",
"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": "ENST00000478402.5"
},
{
"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": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "n.1340_*1delCCT",
"hgvs_p": null,
"transcript": "ENST00000446534.1",
"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": "ENST00000446534.1"
}
],
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"dbsnp": "rs1198562340",
"frequency_reference_population": 0.0000024792303,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136873,
"gnomad_genomes_af": 0.0000131413,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.501,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013328.4",
"gene_symbol": "PYCR2",
"hgnc_id": 30262,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.782_784delCCT",
"hgvs_p": "p.Ser261del"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000432920.2",
"gene_symbol": "ENSG00000255835",
"hgnc_id": null,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "",
"hgvs_c": "c.560_562delCCT",
"hgvs_p": "p.Ser187del"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}