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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: 2-26204189-CCAGATGCCTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26204189&ref=CCAGATGCCTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "HADHA",
"hgnc_id": 4801,
"hgvs_c": "c.1086-3_1092delCAGGCATCTG",
"hgvs_p": "p.His363fs",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000182.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "GAREM2",
"hgnc_id": 27172,
"hgvs_c": "c.*1873_*1882delGATGCCTGCA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "XM_011532567.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Mitochondrial trifunctional protein deficiency",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 763,
"aa_ref": "KHL",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2943,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1086,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_000182.5",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1086-3_1092delCAGGCATCTG",
"hgvs_p": "p.His363fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380649.8",
"protein_coding": true,
"protein_id": "NP_000173.2",
"strand": false,
"transcript": "NM_000182.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 763,
"aa_ref": "KHL",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2943,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1086,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000380649.8",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1086-3_1092delCAGGCATCTG",
"hgvs_p": "p.His363fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000182.5",
"protein_coding": true,
"protein_id": "ENSP00000370023.3",
"strand": false,
"transcript": "ENST00000380649.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 589,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3888,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011532567.4",
"gene_hgnc_id": 27172,
"gene_symbol": "GAREM2",
"hgvs_c": "c.*1873_*1882delGATGCCTGCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530869.1",
"strand": true,
"transcript": "XM_011532567.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 818,
"aa_ref": "KHL",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1251,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942149.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1251-3_1257delCAGGCATCTG",
"hgvs_p": "p.His418fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612208.1",
"strand": false,
"transcript": "ENST00000942149.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 795,
"aa_ref": "KHL",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1101,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942146.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1101-3_1107delCAGGCATCTG",
"hgvs_p": "p.His368fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612205.1",
"strand": false,
"transcript": "ENST00000942146.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 792,
"aa_ref": "KHL",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2982,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1086,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000492433.2",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1086-3_1092delCAGGCATCTG",
"hgvs_p": "p.His363fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438039.2",
"strand": false,
"transcript": "ENST00000492433.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 790,
"aa_ref": "KHL",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1086,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859324.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1086-3_1092delCAGGCATCTG",
"hgvs_p": "p.His363fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529383.1",
"strand": false,
"transcript": "ENST00000859324.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 788,
"aa_ref": "KHL",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1080,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942150.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1080-3_1086delCAGGCATCTG",
"hgvs_p": "p.His361fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612209.1",
"strand": false,
"transcript": "ENST00000942150.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 780,
"aa_ref": "KHL",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1137,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000859333.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1137-3_1143delCAGGCATCTG",
"hgvs_p": "p.His380fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529392.1",
"strand": false,
"transcript": "ENST00000859333.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 775,
"aa_ref": "KHL",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1086,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942153.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1086-3_1092delCAGGCATCTG",
"hgvs_p": "p.His363fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612212.1",
"strand": false,
"transcript": "ENST00000942153.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 769,
"aa_ref": "KHL",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2744,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1086,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942145.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1086-3_1092delCAGGCATCTG",
"hgvs_p": "p.His363fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612204.1",
"strand": false,
"transcript": "ENST00000942145.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 768,
"aa_ref": "KHL",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1101,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859325.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1101-3_1107delCAGGCATCTG",
"hgvs_p": "p.His368fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529384.1",
"strand": false,
"transcript": "ENST00000859325.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 763,
"aa_ref": "KHL",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1086,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942141.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1086-3_1092delCAGGCATCTG",
"hgvs_p": "p.His363fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612200.1",
"strand": false,
"transcript": "ENST00000942141.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 763,
"aa_ref": "KHL",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1086,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942144.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1086-3_1092delCAGGCATCTG",
"hgvs_p": "p.His363fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612203.1",
"strand": false,
"transcript": "ENST00000942144.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 761,
"aa_ref": "KHL",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1086,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925541.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1086-3_1092delCAGGCATCTG",
"hgvs_p": "p.His363fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595600.1",
"strand": false,
"transcript": "ENST00000925541.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 761,
"aa_ref": "KHL",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1080,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942142.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1080-3_1086delCAGGCATCTG",
"hgvs_p": "p.His361fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612201.1",
"strand": false,
"transcript": "ENST00000942142.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 760,
"aa_ref": "KHL",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1077,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000859327.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1077-3_1083delCAGGCATCTG",
"hgvs_p": "p.His360fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529386.1",
"strand": false,
"transcript": "ENST00000859327.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 760,
"aa_ref": "KHL",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1077,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942147.1",
"gene_hgnc_id": 4801,
"gene_symbol": "HADHA",
"hgvs_c": "c.1077-3_1083delCAGGCATCTG",
"hgvs_p": "p.His360fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612206.1",
"strand": false,
"transcript": "ENST00000942147.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 751,
"aa_ref": "KHL",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1100,
"cds_end": null,
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],
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}
]
}