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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: 3-42091512-C-CCTCTGCCAGGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42091512&ref=C&alt=CCTCTGCCAGGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 42091512,
"ref": "C",
"alt": "CCTCTGCCAGGA",
"effect": "frameshift_variant",
"transcript": "NM_001042646.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "NM_001042646.3",
"protein_id": "NP_001036111.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 953,
"cds_start": 63,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327628.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042646.3"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "ENST00000327628.10",
"protein_id": "ENSP00000328998.5",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 953,
"cds_start": 63,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042646.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327628.10"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "NM_001349246.2",
"protein_id": "NP_001336175.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 932,
"cds_start": 63,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349246.2"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "NM_001265608.2",
"protein_id": "NP_001252537.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 744,
"cds_start": 63,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265608.2"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "NM_001349247.2",
"protein_id": "NP_001336176.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 712,
"cds_start": 63,
"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_001349247.2"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_024453400.2",
"protein_id": "XP_024309168.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 999,
"cds_start": 63,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453400.2"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_024453402.2",
"protein_id": "XP_024309170.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 953,
"cds_start": 63,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453402.2"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_024453403.2",
"protein_id": "XP_024309171.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 932,
"cds_start": 63,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453403.2"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_047447723.1",
"protein_id": "XP_047303679.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 710,
"cds_start": 63,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447723.1"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_047447724.1",
"protein_id": "XP_047303680.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 689,
"cds_start": 63,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447724.1"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_005264962.4",
"protein_id": "XP_005265019.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 666,
"cds_start": 63,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264962.4"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_006713029.3",
"protein_id": "XP_006713092.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 666,
"cds_start": 63,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713029.3"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_011533489.4",
"protein_id": "XP_011531791.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 664,
"cds_start": 63,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533489.4"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_005264963.4",
"protein_id": "XP_005265020.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 645,
"cds_start": 63,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264963.4"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_006713030.3",
"protein_id": "XP_006713093.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 645,
"cds_start": 63,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713030.3"
},
{
"aa_ref": "H",
"aa_alt": "QDSA?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.52_62dupGGACTCTGCCA",
"hgvs_p": "p.His21fs",
"transcript": "XM_006713031.5",
"protein_id": "XP_006713094.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 643,
"cds_start": 63,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.-418_-408dupGGACTCTGCCA",
"hgvs_p": null,
"transcript": "XM_047447719.1",
"protein_id": "XP_047303675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": null,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447719.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.-435_-425dupGGACTCTGCCA",
"hgvs_p": null,
"transcript": "XM_047447720.1",
"protein_id": "XP_047303676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047447720.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.175+4121_175+4131dupGGACTCTGCCA",
"hgvs_p": null,
"transcript": "ENST00000673621.3",
"protein_id": "ENSP00000500819.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 981,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673621.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.-222+4121_-222+4131dupGGACTCTGCCA",
"hgvs_p": null,
"transcript": "ENST00000487159.5",
"protein_id": "ENSP00000486713.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 849,
"cds_start": null,
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"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487159.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.-222+4121_-222+4131dupGGACTCTGCCA",
"hgvs_p": null,
"transcript": "NM_001349245.1",
"protein_id": "NP_001336174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349245.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.-222+4121_-222+4131dupGGACTCTGCCA",
"hgvs_p": null,
"transcript": "ENST00000672026.1",
"protein_id": "ENSP00000500099.1",
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{
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}