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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: 21-45505223-TCCCGGCCCC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45505223&ref=TCCCGGCCCC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 45505223,
"ref": "TCCCGGCCCC",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_130444.3",
"consequences": [
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2961_2969delCGGCCCCCC",
"hgvs_p": "p.Gly988_Pro990del",
"transcript": "NM_001379500.1",
"protein_id": "NP_001366429.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1339,
"cds_start": 2961,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651438.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379500.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2961_2969delCGGCCCCCC",
"hgvs_p": "p.Gly988_Pro990del",
"transcript": "ENST00000651438.1",
"protein_id": "ENSP00000498485.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1339,
"cds_start": 2961,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001379500.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651438.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.3501_3509delCGGCCCCCC",
"hgvs_p": "p.Gly1168_Pro1170del",
"transcript": "ENST00000355480.10",
"protein_id": "ENSP00000347665.5",
"transcript_support_level": 1,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1519,
"cds_start": 3501,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355480.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1294-6620_1294-6612delGGGGCCGGG",
"hgvs_p": null,
"transcript": "ENST00000567670.5",
"protein_id": "ENSP00000457278.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": null,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567670.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.496-6620_496-6612delGGGGCCGGG",
"hgvs_p": null,
"transcript": "ENST00000417954.5",
"protein_id": "ENSP00000393988.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417954.5"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.4206_4214delCGGCCCCCC",
"hgvs_p": "p.Gly1403_Pro1405del",
"transcript": "NM_130444.3",
"protein_id": "NP_569711.2",
"transcript_support_level": null,
"aa_start": 1402,
"aa_end": null,
"aa_length": 1754,
"cds_start": 4206,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130444.3"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.4206_4214delCGGCCCCCC",
"hgvs_p": "p.Gly1403_Pro1405del",
"transcript": "ENST00000359759.8",
"protein_id": "ENSP00000352798.4",
"transcript_support_level": 5,
"aa_start": 1402,
"aa_end": null,
"aa_length": 1754,
"cds_start": 4206,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359759.8"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.3501_3509delCGGCCCCCC",
"hgvs_p": "p.Gly1168_Pro1170del",
"transcript": "NM_030582.4",
"protein_id": "NP_085059.2",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1519,
"cds_start": 3501,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030582.4"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.3393_3401delCGGCCCCCC",
"hgvs_p": "p.Gly1132_Pro1134del",
"transcript": "ENST00000859062.1",
"protein_id": "ENSP00000529121.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1483,
"cds_start": 3393,
"cds_end": null,
"cds_length": 4452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859062.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2898_2906delCGGCCCCCC",
"hgvs_p": "p.Gly967_Pro969del",
"transcript": "ENST00000930602.1",
"protein_id": "ENSP00000600661.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1421,
"cds_start": 2898,
"cds_end": null,
"cds_length": 4266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930602.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.3030_3038delCGGCCCCCC",
"hgvs_p": "p.Gly1011_Pro1013del",
"transcript": "ENST00000859069.1",
"protein_id": "ENSP00000529128.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1362,
"cds_start": 3030,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859069.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.3021_3029delCGGCCCCCC",
"hgvs_p": "p.Gly1008_Pro1010del",
"transcript": "ENST00000859068.1",
"protein_id": "ENSP00000529127.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3021,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859068.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.3015_3023delCGGCCCCCC",
"hgvs_p": "p.Gly1006_Pro1008del",
"transcript": "ENST00000859063.1",
"protein_id": "ENSP00000529122.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3015,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859063.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2961_2969delCGGCCCCCC",
"hgvs_p": "p.Gly988_Pro990del",
"transcript": "ENST00000859060.1",
"protein_id": "ENSP00000529119.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1350,
"cds_start": 2961,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859060.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2952_2960delCGGCCCCCC",
"hgvs_p": "p.Gly985_Pro987del",
"transcript": "ENST00000970099.1",
"protein_id": "ENSP00000640158.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1336,
"cds_start": 2952,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970099.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2934_2942delCGGCCCCCC",
"hgvs_p": "p.Gly979_Pro981del",
"transcript": "ENST00000859066.1",
"protein_id": "ENSP00000529125.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859066.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2931_2939delCGGCCCCCC",
"hgvs_p": "p.Gly978_Pro980del",
"transcript": "ENST00000930597.1",
"protein_id": "ENSP00000600656.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1330,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930597.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2934_2942delCGGCCCCCC",
"hgvs_p": "p.Gly979_Pro981del",
"transcript": "ENST00000970097.1",
"protein_id": "ENSP00000640156.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1330,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970097.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2931_2939delCGGCCCCCC",
"hgvs_p": "p.Gly978_Pro980del",
"transcript": "ENST00000859067.1",
"protein_id": "ENSP00000529126.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1329,
"cds_start": 2931,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859067.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2925_2933delCGGCCCCCC",
"hgvs_p": "p.Gly976_Pro978del",
"transcript": "ENST00000859059.1",
"protein_id": "ENSP00000529118.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1327,
"cds_start": 2925,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859059.1"
},
{
"aa_ref": "PGPP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL18A1",
"gene_hgnc_id": 2195,
"hgvs_c": "c.2907_2915delCGGCCCCCC",
"hgvs_p": "p.Gly970_Pro972del",
"transcript": "ENST00000930601.1",
"protein_id": "ENSP00000600660.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1321,
"cds_start": 2907,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"pathogenic_score": 3,
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"BP6_Moderate"
],
"verdict": "Uncertain_significance",
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{
"score": 1,
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"PP3",
"BP6_Moderate"
],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}