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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: 2-27312716-GGTGGTGCCA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27312716&ref=GGTGGTGCCA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM4"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "MPV17",
"hgnc_id": 7224,
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_002437.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4",
"acmg_score": 6,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 176,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1002,
"cdna_start": 293,
"cds_end": null,
"cds_length": 531,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002437.5",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380044.6",
"protein_coding": true,
"protein_id": "NP_002428.1",
"strand": false,
"transcript": "NM_002437.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 176,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1002,
"cdna_start": 293,
"cds_end": null,
"cds_length": 531,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000380044.6",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002437.5",
"protein_coding": true,
"protein_id": "ENSP00000369383.1",
"strand": false,
"transcript": "ENST00000380044.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 176,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": 289,
"cds_end": null,
"cds_length": 531,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000233545.6",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000233545.2",
"strand": false,
"transcript": "ENST00000233545.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 171,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 665,
"cdna_start": 263,
"cds_end": null,
"cds_length": 516,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000403262.6",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385671.1",
"strand": false,
"transcript": "ENST00000403262.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 99,
"aa_ref": "WHH",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 827,
"cdna_start": 242,
"cds_end": null,
"cds_length": 300,
"cds_start": 199,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000402722.5",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.199_207delTGGCACCAC",
"hgvs_p": "p.Trp67_His69del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386000.1",
"strand": false,
"transcript": "ENST00000402722.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 226,
"aa_ref": "PGTT",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1145,
"cdna_start": 436,
"cds_end": null,
"cds_length": 681,
"cds_start": 384,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911060.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.384_392delTGGCACCAC",
"hgvs_p": "p.Gly129_Thr131del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581119.1",
"strand": false,
"transcript": "ENST00000911060.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 199,
"aa_ref": "PGTT",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1044,
"cdna_start": 338,
"cds_end": null,
"cds_length": 600,
"cds_start": 303,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000931184.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.303_311delTGGCACCAC",
"hgvs_p": "p.Gly102_Thr104del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601243.1",
"strand": false,
"transcript": "ENST00000931184.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 191,
"aa_ref": "PGTT",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 304,
"cds_end": null,
"cds_length": 576,
"cds_start": 279,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000405983.5",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.279_287delTGGCACCAC",
"hgvs_p": "p.Gly94_Thr96del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384586.1",
"strand": false,
"transcript": "ENST00000405983.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 191,
"aa_ref": "PGTT",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1061,
"cdna_start": 352,
"cds_end": null,
"cds_length": 576,
"cds_start": 279,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931185.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.279_287delTGGCACCAC",
"hgvs_p": "p.Gly94_Thr96del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601244.1",
"strand": false,
"transcript": "ENST00000931185.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 176,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 977,
"cdna_start": 270,
"cds_end": null,
"cds_length": 531,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000911063.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581122.1",
"strand": false,
"transcript": "ENST00000911063.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 176,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1070,
"cdna_start": 355,
"cds_end": null,
"cds_length": 531,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931181.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601240.1",
"strand": false,
"transcript": "ENST00000931181.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 176,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1191,
"cdna_start": 482,
"cds_end": null,
"cds_length": 531,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931186.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601245.1",
"strand": false,
"transcript": "ENST00000931186.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 175,
"aa_ref": "PGTT",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1018,
"cdna_start": 303,
"cds_end": null,
"cds_length": 528,
"cds_start": 231,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931180.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.231_239delTGGCACCAC",
"hgvs_p": "p.Gly78_Thr80del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601239.1",
"strand": false,
"transcript": "ENST00000931180.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 175,
"aa_ref": "PGTT",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1007,
"cdna_start": 300,
"cds_end": null,
"cds_length": 528,
"cds_start": 231,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000949905.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.231_239delTGGCACCAC",
"hgvs_p": "p.Gly78_Thr80del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619964.1",
"strand": false,
"transcript": "ENST00000949905.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 170,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 906,
"cdna_start": 250,
"cds_end": null,
"cds_length": 513,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000402310.5",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383955.1",
"strand": false,
"transcript": "ENST00000402310.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 165,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 950,
"cdna_start": 276,
"cds_end": null,
"cds_length": 498,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000911062.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581121.1",
"strand": false,
"transcript": "ENST00000911062.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 165,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1008,
"cdna_start": 332,
"cds_end": null,
"cds_length": 498,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931183.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601242.1",
"strand": false,
"transcript": "ENST00000931183.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 158,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 939,
"cdna_start": 286,
"cds_end": null,
"cds_length": 477,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000911061.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581120.1",
"strand": false,
"transcript": "ENST00000911061.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 152,
"aa_ref": "PGTT",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 923,
"cdna_start": 223,
"cds_end": null,
"cds_length": 459,
"cds_start": 162,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949903.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.162_170delTGGCACCAC",
"hgvs_p": "p.Gly55_Thr57del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619962.1",
"strand": false,
"transcript": "ENST00000949903.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 147,
"aa_ref": "PGTT",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": 285,
"cds_end": null,
"cds_length": 444,
"cds_start": 234,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931182.1",
"gene_hgnc_id": 7224,
"gene_symbol": "MPV17",
"hgvs_c": "c.234_242delTGGCACCAC",
"hgvs_p": "p.Gly79_Thr81del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601241.1",
"strand": false,
"transcript": "ENST00000931182.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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