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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: 15-74202216-AGT-GG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74202216&ref=AGT&alt=GG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74202216,
"ref": "AGT",
"alt": "GG",
"effect": "frameshift_variant,missense_variant",
"transcript": "ENST00000395105.9",
"consequences": [
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "NM_022369.4",
"protein_id": "NP_071764.3",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 667,
"cds_start": 50,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": "ENST00000395105.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "ENST00000395105.9",
"protein_id": "ENSP00000378537.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 667,
"cds_start": 50,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": "NM_022369.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.167_169delACTinsCC",
"hgvs_p": "p.Asp56fs",
"transcript": "ENST00000563965.5",
"protein_id": "ENSP00000456609.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 706,
"cds_start": 167,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "ENST00000423167.6",
"protein_id": "ENSP00000413012.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 658,
"cds_start": 50,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "ENST00000432245.6",
"protein_id": "ENSP00000407176.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 159,
"cds_start": 50,
"cds_end": null,
"cds_length": 480,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 1889,
"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": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "n.50_52delACTinsCC",
"hgvs_p": null,
"transcript": "ENST00000569936.5",
"protein_id": "ENSP00000461799.1",
"transcript_support_level": 1,
"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": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.167_169delACTinsCC",
"hgvs_p": "p.Asp56fs",
"transcript": "NM_001199042.2",
"protein_id": "NP_001185971.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 706,
"cds_start": 167,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.161_163delACTinsCC",
"hgvs_p": "p.Asp54fs",
"transcript": "NM_001199040.2",
"protein_id": "NP_001185969.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 704,
"cds_start": 161,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.161_163delACTinsCC",
"hgvs_p": "p.Asp54fs",
"transcript": "ENST00000535552.5",
"protein_id": "ENSP00000440238.1",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 704,
"cds_start": 161,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.95_97delACTinsCC",
"hgvs_p": "p.Asp32fs",
"transcript": "NM_001199041.2",
"protein_id": "NP_001185970.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 682,
"cds_start": 95,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.95_97delACTinsCC",
"hgvs_p": "p.Asp32fs",
"transcript": "ENST00000574278.5",
"protein_id": "ENSP00000458827.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 682,
"cds_start": 95,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "NM_001142617.2",
"protein_id": "NP_001136089.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 667,
"cds_start": 50,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "NM_001142618.2",
"protein_id": "NP_001136090.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 667,
"cds_start": 50,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "NM_001437994.1",
"protein_id": "NP_001424923.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 667,
"cds_start": 50,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "ENST00000323940.9",
"protein_id": "ENSP00000326085.5",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 667,
"cds_start": 50,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "ENST00000449139.6",
"protein_id": "ENSP00000410221.2",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 667,
"cds_start": 50,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "ENST00000616000.4",
"protein_id": "ENSP00000479112.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 667,
"cds_start": 50,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "ENST00000416286.7",
"protein_id": "ENSP00000400403.3",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 659,
"cds_start": 50,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "NM_001142619.2",
"protein_id": "NP_001136091.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 658,
"cds_start": 50,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "NM_001142620.2",
"protein_id": "NP_001136092.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 159,
"cds_start": 50,
"cds_end": null,
"cds_length": 480,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.50_52delACTinsCC",
"hgvs_p": "p.Asp17fs",
"transcript": "ENST00000571341.1",
"protein_id": "ENSP00000458204.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 87,
"cds_start": 50,
"cds_end": null,
"cds_length": 266,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRA6",
"gene_hgnc_id": 30650,
"hgvs_c": "c.98_100delACTinsCC",
"hgvs_p": "p.Asp33fs",
"transcript": "XM_017022478.2",
"protein_id": "XP_016877967.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 683,
"cds_start": 98,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DY",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": false,
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"verdict": "Pathogenic",
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Matthew-Wood syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}