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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: 7-860216-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=860216&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 860216,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000401592.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1613C>T",
"hgvs_p": "p.Ser538Leu",
"transcript": "NM_001130965.3",
"protein_id": "NP_001124437.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 785,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "ENST00000401592.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1613C>T",
"hgvs_p": "p.Ser538Leu",
"transcript": "ENST00000401592.6",
"protein_id": "ENSP00000384015.1",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 785,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "NM_001130965.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1388C>T",
"hgvs_p": "p.Ser463Leu",
"transcript": "ENST00000429178.5",
"protein_id": "ENSP00000409909.1",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 710,
"cds_start": 1388,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.1722C>T",
"hgvs_p": null,
"transcript": "ENST00000475971.5",
"protein_id": null,
"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": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2027C>T",
"hgvs_p": "p.Ser676Leu",
"transcript": "NM_001367651.1",
"protein_id": "NP_001354580.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 923,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2006C>T",
"hgvs_p": "p.Ser669Leu",
"transcript": "NM_001367705.1",
"protein_id": "NP_001354634.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 916,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2003C>T",
"hgvs_p": "p.Ser668Leu",
"transcript": "NM_001367678.1",
"protein_id": "NP_001354607.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 915,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1922C>T",
"hgvs_p": "p.Ser641Leu",
"transcript": "NM_001367692.1",
"protein_id": "NP_001354621.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 888,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1919C>T",
"hgvs_p": "p.Ser640Leu",
"transcript": "NM_001367677.1",
"protein_id": "NP_001354606.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 887,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2006C>T",
"hgvs_p": "p.Ser669Leu",
"transcript": "NM_001367703.1",
"protein_id": "NP_001354632.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 885,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2003C>T",
"hgvs_p": "p.Ser668Leu",
"transcript": "NM_001367699.1",
"protein_id": "NP_001354628.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 884,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1904C>T",
"hgvs_p": "p.Ser635Leu",
"transcript": "NM_001367690.1",
"protein_id": "NP_001354619.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 882,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1895C>T",
"hgvs_p": "p.Ser632Leu",
"transcript": "NM_001367641.1",
"protein_id": "NP_001354570.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 879,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1892C>T",
"hgvs_p": "p.Ser631Leu",
"transcript": "NM_001367698.1",
"protein_id": "NP_001354627.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 878,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ser619Leu",
"transcript": "NM_001367666.1",
"protein_id": "NP_001354595.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 866,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1853C>T",
"hgvs_p": "p.Ser618Leu",
"transcript": "NM_001367691.1",
"protein_id": "NP_001354620.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 865,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1823C>T",
"hgvs_p": "p.Ser608Leu",
"transcript": "NM_001367655.1",
"protein_id": "NP_001354584.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 855,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1823C>T",
"hgvs_p": "p.Ser608Leu",
"transcript": "NM_001367700.1",
"protein_id": "NP_001354629.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 855,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1811C>T",
"hgvs_p": "p.Ser604Leu",
"transcript": "NM_001367674.1",
"protein_id": "NP_001354603.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 851,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Ser603Leu",
"transcript": "NM_001367697.1",
"protein_id": "NP_001354626.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 850,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1805C>T",
"hgvs_p": "p.Ser602Leu",
"transcript": "NM_001367643.1",
"protein_id": "NP_001354572.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 849,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1895C>T",
"hgvs_p": "p.Ser632Leu",
"transcript": "NM_001367682.1",
"protein_id": "NP_001354611.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 848,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1796C>T",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.35,
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{
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"verdict": "Uncertain_significance",
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],
"inheritance_mode": "",
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],
"clinvar_disease": "Emery-Dreifuss muscular dystrophy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}