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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: 2-215435729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=215435729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 215435729,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_212482.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "NM_212482.4",
"protein_id": "NP_997647.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 2477,
"cds_start": 74,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354785.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212482.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000354785.11",
"protein_id": "ENSP00000346839.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 2477,
"cds_start": 74,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_212482.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354785.11"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000323926.10",
"protein_id": "ENSP00000323534.6",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 2446,
"cds_start": 74,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323926.10"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000336916.8",
"protein_id": "ENSP00000338200.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 2355,
"cds_start": 74,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336916.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000446046.5",
"protein_id": "ENSP00000410422.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 2330,
"cds_start": 74,
"cds_end": null,
"cds_length": 6993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446046.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000356005.8",
"protein_id": "ENSP00000348285.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 2296,
"cds_start": 74,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356005.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000432072.6",
"protein_id": "ENSP00000399538.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 2267,
"cds_start": 74,
"cds_end": null,
"cds_length": 6804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432072.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000443816.5",
"protein_id": "ENSP00000415018.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 2265,
"cds_start": 74,
"cds_end": null,
"cds_length": 6798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443816.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000421182.5",
"protein_id": "ENSP00000394423.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 2240,
"cds_start": 74,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421182.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000357867.8",
"protein_id": "ENSP00000350534.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 2176,
"cds_start": 74,
"cds_end": null,
"cds_length": 6531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357867.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000426059.1",
"protein_id": "ENSP00000398907.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 657,
"cds_start": 74,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426059.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000933287.1",
"protein_id": "ENSP00000603346.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 2475,
"cds_start": 74,
"cds_end": null,
"cds_length": 7428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933287.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "NM_001306129.2",
"protein_id": "NP_001293058.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 2446,
"cds_start": 74,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306129.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "NM_001365517.2",
"protein_id": "NP_001352446.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 2387,
"cds_start": 74,
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"cds_length": 7164,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365517.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "NM_001365518.2",
"protein_id": "NP_001352447.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 2386,
"cds_start": 74,
"cds_end": null,
"cds_length": 7161,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365518.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000359671.5",
"protein_id": "ENSP00000352696.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 2386,
"cds_start": 74,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359671.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000967218.1",
"protein_id": "ENSP00000637277.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 2384,
"cds_start": 74,
"cds_end": null,
"cds_length": 7155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967218.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "NM_001365519.2",
"protein_id": "NP_001352448.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 2362,
"cds_start": 74,
"cds_end": null,
"cds_length": 7089,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365519.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "NM_001365520.2",
"protein_id": "NP_001352449.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 2361,
"cds_start": 74,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365520.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "ENST00000865085.1",
"protein_id": "ENSP00000535144.1",
"transcript_support_level": null,
"aa_start": 25,
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"aa_length": 2357,
"cds_start": 74,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865085.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "NM_001365521.2",
"protein_id": "NP_001352450.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 2356,
"cds_start": 74,
"cds_end": null,
"cds_length": 7071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365521.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Gly25Glu",
"transcript": "NM_002026.4",
"protein_id": "NP_002017.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 2355,
"cds_start": 74,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002026.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
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"verdict": "Likely_benign",
"transcript": "NR_187198.1",
"gene_symbol": "FN1-DT",
"hgnc_id": 55775,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.39C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}