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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: 14-88391363-T-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88391363&ref=T&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SPATA7",
"hgnc_id": 20423,
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_018418.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Leber congenital amaurosis 3",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018418.5",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393545.9",
"protein_coding": true,
"protein_id": "NP_060888.2",
"strand": true,
"transcript": "NM_018418.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393545.9",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018418.5",
"protein_coding": true,
"protein_id": "ENSP00000377176.4",
"strand": true,
"transcript": "ENST00000393545.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 567,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356583.9",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348991.5",
"strand": true,
"transcript": "ENST00000356583.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 567,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556553.5",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451128.1",
"strand": true,
"transcript": "ENST00000556553.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 581,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1930,
"cdna_start": null,
"cds_end": null,
"cds_length": 1746,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879181.1",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549240.1",
"strand": true,
"transcript": "ENST00000879181.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 567,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001040428.4",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035518.1",
"strand": true,
"transcript": "NM_001040428.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 458,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": null,
"cds_end": null,
"cds_length": 1377,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000045347.11",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000045347.7",
"strand": true,
"transcript": "ENST00000045347.11",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 805,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553885.5",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450606.1",
"strand": true,
"transcript": "ENST00000553885.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 137,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": null,
"cds_end": null,
"cds_length": 416,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555401.5",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-4793_20-4792insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452435.1",
"strand": true,
"transcript": "ENST00000555401.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 600,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": null,
"cds_end": null,
"cds_length": 1803,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005267851.2",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267908.1",
"strand": true,
"transcript": "XM_005267851.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": null,
"cds_end": null,
"cds_length": 1707,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005267852.3",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267909.1",
"strand": true,
"transcript": "XM_005267852.3",
"transcript_support_level": null
},
{
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"aa_length": 543,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": null,
"cds_end": null,
"cds_length": 1632,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011536952.2",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-4793_20-4792insC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011535254.1",
"strand": true,
"transcript": "XM_011536952.2",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 10,
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"feature": "XM_024449660.2",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-4793_20-4792insC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024305428.1",
"strand": true,
"transcript": "XM_024449660.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8366,
"cdna_start": null,
"cds_end": null,
"cds_length": 1338,
"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720204.2",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006720267.1",
"strand": true,
"transcript": "XM_006720204.2",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
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"feature": "XM_006720205.2",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006720268.1",
"strand": true,
"transcript": "XM_006720205.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1947,
"cdna_start": null,
"cds_end": null,
"cds_length": 1302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431581.1",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287537.1",
"strand": true,
"transcript": "XM_047431581.1",
"transcript_support_level": null
},
{
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"aa_length": 412,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8267,
"cdna_start": null,
"cds_end": null,
"cds_length": 1239,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431582.1",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047287538.1",
"strand": true,
"transcript": "XM_047431582.1",
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},
{
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"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "XM_047431584.1",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "c.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047287540.1",
"strand": true,
"transcript": "XM_047431584.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 11,
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"feature": "ENST00000553626.5",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "n.148-18_148-17insC",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000553626.5",
"transcript_support_level": 2
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553908.5",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "n.20-18_20-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452546.1",
"strand": true,
"transcript": "ENST00000553908.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 501,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554102.5",
"gene_hgnc_id": 20423,
"gene_symbol": "SPATA7",
"hgvs_c": "n.163-18_163-17insC",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000554102.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
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