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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: 9-37432134-CTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37432134&ref=CTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37432134,
"ref": "CTG",
"alt": "C",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_012203.2",
"consequences": [
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.864_865delTG",
"hgvs_p": "p.Val289fs",
"transcript": "NM_012203.2",
"protein_id": "NP_036335.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 328,
"cds_start": 864,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318158.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012203.2"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.864_865delTG",
"hgvs_p": "p.Val289fs",
"transcript": "ENST00000318158.11",
"protein_id": "ENSP00000313432.6",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 328,
"cds_start": 864,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012203.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318158.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.891_892delTG",
"hgvs_p": null,
"transcript": "ENST00000460882.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000460882.5"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.864_865delTG",
"hgvs_p": "p.Cys288fs",
"transcript": "ENST00000874646.1",
"protein_id": "ENSP00000544705.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 364,
"cds_start": 864,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874646.1"
},
{
"aa_ref": "CG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.864_865delTG",
"hgvs_p": "p.Cys288fs",
"transcript": "ENST00000607784.1",
"protein_id": "ENSP00000475569.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 358,
"cds_start": 864,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607784.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.948_949delTG",
"hgvs_p": "p.Val317fs",
"transcript": "ENST00000874649.1",
"protein_id": "ENSP00000544708.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 356,
"cds_start": 948,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874649.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.879_880delTG",
"hgvs_p": "p.Val294fs",
"transcript": "ENST00000874647.1",
"protein_id": "ENSP00000544706.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 333,
"cds_start": 879,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874647.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.819_820delTG",
"hgvs_p": "p.Val274fs",
"transcript": "ENST00000874650.1",
"protein_id": "ENSP00000544709.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 313,
"cds_start": 819,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874650.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.807_808delTG",
"hgvs_p": "p.Val270fs",
"transcript": "ENST00000874645.1",
"protein_id": "ENSP00000544704.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 309,
"cds_start": 807,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874645.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.759_760delTG",
"hgvs_p": "p.Val254fs",
"transcript": "ENST00000874641.1",
"protein_id": "ENSP00000544700.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 293,
"cds_start": 759,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874641.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.705_706delTG",
"hgvs_p": "p.Val236fs",
"transcript": "ENST00000874643.1",
"protein_id": "ENSP00000544702.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 275,
"cds_start": 705,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874643.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.534_535delTG",
"hgvs_p": "p.Val179fs",
"transcript": "ENST00000874648.1",
"protein_id": "ENSP00000544707.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 218,
"cds_start": 534,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874648.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.426_427delTG",
"hgvs_p": "p.Val143fs",
"transcript": "ENST00000874644.1",
"protein_id": "ENSP00000544703.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 182,
"cds_start": 426,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874644.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.375_376delTG",
"hgvs_p": "p.Val126fs",
"transcript": "ENST00000926740.1",
"protein_id": "ENSP00000596799.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 165,
"cds_start": 375,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926740.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.321_322delTG",
"hgvs_p": "p.Val108fs",
"transcript": "ENST00000926739.1",
"protein_id": "ENSP00000596798.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 147,
"cds_start": 321,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926739.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.213_214delTG",
"hgvs_p": "p.Val72fs",
"transcript": "ENST00000926738.1",
"protein_id": "ENSP00000596797.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 111,
"cds_start": 213,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926738.1"
},
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.1137_1138delTG",
"hgvs_p": "p.Cys379fs",
"transcript": "XM_024447716.2",
"protein_id": "XP_024303484.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 429,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447716.2"
},
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.864_865delTG",
"hgvs_p": "p.Cys288fs",
"transcript": "XM_017015320.3",
"protein_id": "XP_016870809.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 338,
"cds_start": 864,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015320.3"
},
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.864_865delTG",
"hgvs_p": "p.Cys288fs",
"transcript": "XM_017015321.3",
"protein_id": "XP_016870810.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 309,
"cds_start": 864,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015321.3"
},
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.543_544delTG",
"hgvs_p": "p.Cys181fs",
"transcript": "XM_047424084.1",
"protein_id": "XP_047280040.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 231,
"cds_start": 543,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424084.1"
},
{
"aa_ref": "CV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.543_544delTG",
"hgvs_p": "p.Val182fs",
"transcript": "XM_005251631.2",
"protein_id": "XP_005251688.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 221,
"cds_start": 543,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251631.2"
},
{
"aa_ref": "CD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
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{
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"verdict": "Pathogenic",
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],
"clinvar_disease": " type II,Primary hyperoxaluria,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Primary hyperoxaluria, type II|Primary hyperoxaluria|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}