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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: 19-40700388-T-TGTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40700388&ref=T&alt=TGTC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40700388,
"ref": "T",
"alt": "TGTC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000324464.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.954_956dupGAC",
"hgvs_p": "p.Thr319dup",
"transcript": "NM_024876.4",
"protein_id": "NP_079152.3",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 544,
"cds_start": 956,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": "ENST00000324464.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.954_956dupGAC",
"hgvs_p": "p.Thr319dup",
"transcript": "ENST00000324464.8",
"protein_id": "ENSP00000315118.3",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 544,
"cds_start": 956,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": "NM_024876.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.831_833dupGAC",
"hgvs_p": "p.Thr278dup",
"transcript": "ENST00000243583.10",
"protein_id": "ENSP00000243583.5",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 503,
"cds_start": 833,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.954_956dupGAC",
"hgvs_p": "p.Thr319dup",
"transcript": "ENST00000594720.6",
"protein_id": "ENSP00000470876.2",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 544,
"cds_start": 956,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.954_956dupGAC",
"hgvs_p": "p.Thr319dup",
"transcript": "ENST00000601967.6",
"protein_id": "ENSP00000470916.2",
"transcript_support_level": 3,
"aa_start": 319,
"aa_end": null,
"aa_length": 544,
"cds_start": 956,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.954_956dupGAC",
"hgvs_p": "p.Thr319dup",
"transcript": "ENST00000677018.1",
"protein_id": "ENSP00000503480.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 544,
"cds_start": 956,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.954_956dupGAC",
"hgvs_p": "p.Thr319dup",
"transcript": "ENST00000678404.1",
"protein_id": "ENSP00000503944.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 544,
"cds_start": 956,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.954_956dupGAC",
"hgvs_p": "p.Thr319dup",
"transcript": "ENST00000678419.1",
"protein_id": "ENSP00000504085.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 544,
"cds_start": 956,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.954_956dupGAC",
"hgvs_p": "p.Thr319dup",
"transcript": "ENST00000678467.1",
"protein_id": "ENSP00000504072.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 544,
"cds_start": 956,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.954_956dupGAC",
"hgvs_p": "p.Thr319dup",
"transcript": "ENST00000679130.1",
"protein_id": "ENSP00000504845.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 544,
"cds_start": 956,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 2305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.876_878dupGAC",
"hgvs_p": "p.Thr293dup",
"transcript": "ENST00000594490.6",
"protein_id": "ENSP00000471310.2",
"transcript_support_level": 3,
"aa_start": 293,
"aa_end": null,
"aa_length": 518,
"cds_start": 878,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.831_833dupGAC",
"hgvs_p": "p.Thr278dup",
"transcript": "NM_001142555.3",
"protein_id": "NP_001136027.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 503,
"cds_start": 833,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.627_629dupGAC",
"hgvs_p": "p.Thr210dup",
"transcript": "ENST00000677496.1",
"protein_id": "ENSP00000504773.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 435,
"cds_start": 629,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.627_629dupGAC",
"hgvs_p": "p.Thr210dup",
"transcript": "ENST00000677517.1",
"protein_id": "ENSP00000503519.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 435,
"cds_start": 629,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "TT",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.510_512dupGAC",
"hgvs_p": "p.Thr171dup",
"transcript": "ENST00000679012.1",
"protein_id": "ENSP00000504446.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 396,
"cds_start": 512,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.2777_2779dupGAC",
"hgvs_p": null,
"transcript": "ENST00000593724.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.1246_1248dupGAC",
"hgvs_p": null,
"transcript": "ENST00000596455.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.954_956dupGAC",
"hgvs_p": null,
"transcript": "ENST00000676555.1",
"protein_id": "ENSP00000503387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.*696_*698dupGAC",
"hgvs_p": null,
"transcript": "ENST00000676578.1",
"protein_id": "ENSP00000504076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.1079_1081dupGAC",
"hgvs_p": null,
"transcript": "ENST00000676960.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.1233_1235dupGAC",
"hgvs_p": null,
"transcript": "ENST00000676962.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.3157_3159dupGAC",
"hgvs_p": null,
"transcript": "ENST00000677039.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000324464.8",
"gene_symbol": "COQ8B",
"hgnc_id": 19041,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.954_956dupGAC",
"hgvs_p": "p.Thr319dup"
}
],
"clinvar_disease": " type 9,Nephrotic syndrome",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Nephrotic syndrome, type 9",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}