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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: 9-128541124-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128541124&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128541124,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001411013.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.2051T>C",
"hgvs_p": "p.Ile684Thr",
"transcript": "NM_001003722.2",
"protein_id": "NP_001003722.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 698,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "ENST00000309971.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003722.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.2051T>C",
"hgvs_p": "p.Ile684Thr",
"transcript": "ENST00000309971.9",
"protein_id": "ENSP00000308622.5",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 698,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "NM_001003722.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309971.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.2108T>C",
"hgvs_p": "p.Ile703Thr",
"transcript": "ENST00000898507.1",
"protein_id": "ENSP00000568566.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 717,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898507.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.2081T>C",
"hgvs_p": "p.Ile694Thr",
"transcript": "ENST00000898511.1",
"protein_id": "ENSP00000568570.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 708,
"cds_start": 2081,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898511.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.2078T>C",
"hgvs_p": "p.Ile693Thr",
"transcript": "NM_001411013.1",
"protein_id": "NP_001397942.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 707,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411013.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.2078T>C",
"hgvs_p": "p.Ile693Thr",
"transcript": "ENST00000683748.1",
"protein_id": "ENSP00000507377.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 707,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683748.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.2066T>C",
"hgvs_p": "p.Ile689Thr",
"transcript": "ENST00000961293.1",
"protein_id": "ENSP00000631352.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 703,
"cds_start": 2066,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961293.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.2048T>C",
"hgvs_p": "p.Ile683Thr",
"transcript": "ENST00000898506.1",
"protein_id": "ENSP00000568565.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 697,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898506.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.2048T>C",
"hgvs_p": "p.Ile683Thr",
"transcript": "ENST00000961294.1",
"protein_id": "ENSP00000631353.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 697,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961294.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.2018T>C",
"hgvs_p": "p.Ile673Thr",
"transcript": "ENST00000937195.1",
"protein_id": "ENSP00000607254.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 687,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937195.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1967T>C",
"hgvs_p": "p.Ile656Thr",
"transcript": "ENST00000898508.1",
"protein_id": "ENSP00000568567.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 670,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898508.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1967T>C",
"hgvs_p": "p.Ile656Thr",
"transcript": "ENST00000961296.1",
"protein_id": "ENSP00000631355.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 670,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961296.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1946T>C",
"hgvs_p": "p.Ile649Thr",
"transcript": "ENST00000684314.1",
"protein_id": "ENSP00000507700.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 663,
"cds_start": 1946,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684314.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1940T>C",
"hgvs_p": "p.Ile647Thr",
"transcript": "ENST00000898503.1",
"protein_id": "ENSP00000568562.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 661,
"cds_start": 1940,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898503.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1868T>C",
"hgvs_p": "p.Ile623Thr",
"transcript": "ENST00000961298.1",
"protein_id": "ENSP00000631357.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 637,
"cds_start": 1868,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961298.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1856T>C",
"hgvs_p": "p.Ile619Thr",
"transcript": "ENST00000961297.1",
"protein_id": "ENSP00000631356.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 633,
"cds_start": 1856,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961297.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1838T>C",
"hgvs_p": "p.Ile613Thr",
"transcript": "ENST00000684646.1",
"protein_id": "ENSP00000507723.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 627,
"cds_start": 1838,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684646.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1829T>C",
"hgvs_p": "p.Ile610Thr",
"transcript": "ENST00000898505.1",
"protein_id": "ENSP00000568564.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 624,
"cds_start": 1829,
"cds_end": null,
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"cdna_start": 1918,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898505.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1745T>C",
"hgvs_p": "p.Ile582Thr",
"transcript": "ENST00000961295.1",
"protein_id": "ENSP00000631354.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 596,
"cds_start": 1745,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961295.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1718T>C",
"hgvs_p": "p.Ile573Thr",
"transcript": "ENST00000898504.1",
"protein_id": "ENSP00000568563.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 587,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898504.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1613T>C",
"hgvs_p": "p.Ile538Thr",
"transcript": "ENST00000898510.1",
"protein_id": "ENSP00000568569.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 552,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898510.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1586T>C",
"hgvs_p": "p.Ile529Thr",
"transcript": "ENST00000684139.1",
"protein_id": "ENSP00000507295.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001411013.1",
"gene_symbol": "GLE1",
"hgnc_id": 4315,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2078T>C",
"hgvs_p": "p.Ile693Thr"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000426704.1",
"gene_symbol": "ENSG00000228395",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.384A>G",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NR_188457.1",
"gene_symbol": "LOC101929270",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.352+2255A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Lethal arthrogryposis-anterior horn cell disease syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Lethal arthrogryposis-anterior horn cell disease syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}