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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: 4-182914995-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=182914995&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 182914995,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000438320.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "NM_001921.3",
"protein_id": "NP_001912.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": "ENST00000438320.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "ENST00000438320.7",
"protein_id": "ENSP00000398194.2",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": "NM_001921.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.205A>T",
"hgvs_p": "p.Asn69Tyr",
"transcript": "ENST00000357067.7",
"protein_id": "ENSP00000349576.3",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 189,
"cds_start": 205,
"cds_end": null,
"cds_length": 570,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "n.108+466A>T",
"hgvs_p": null,
"transcript": "ENST00000507631.5",
"protein_id": "ENSP00000425287.1",
"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": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.205A>T",
"hgvs_p": "p.Asn69Tyr",
"transcript": "NM_001012732.2",
"protein_id": "NP_001012750.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 189,
"cds_start": 205,
"cds_end": null,
"cds_length": 570,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "NM_001351743.2",
"protein_id": "NP_001338672.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "NM_001351744.2",
"protein_id": "NP_001338673.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "NM_001351745.2",
"protein_id": "NP_001338674.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "NM_001351747.2",
"protein_id": "NP_001338676.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "NM_001351748.2",
"protein_id": "NP_001338677.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "NM_001351750.2",
"protein_id": "NP_001338679.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "NM_001351753.2",
"protein_id": "NP_001338682.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "ENST00000510370.5",
"protein_id": "ENSP00000424017.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
"cds_length": 537,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "ENST00000503182.5",
"protein_id": "ENSP00000422662.1",
"transcript_support_level": 4,
"aa_start": 58,
"aa_end": null,
"aa_length": 168,
"cds_start": 172,
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"cdna_start": 243,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "ENST00000510307.5",
"protein_id": "ENSP00000424050.1",
"transcript_support_level": 4,
"aa_start": 58,
"aa_end": null,
"aa_length": 119,
"cds_start": 172,
"cds_end": null,
"cds_length": 361,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "ENST00000512766.5",
"protein_id": "ENSP00000423182.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "ENST00000514754.5",
"protein_id": "ENSP00000423894.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 97,
"cds_start": 172,
"cds_end": null,
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"cdna_start": 521,
"cdna_end": null,
"cdna_length": 645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "ENST00000503820.5",
"protein_id": "ENSP00000421792.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 72,
"cds_start": 172,
"cds_end": null,
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"cdna_start": 847,
"cdna_end": null,
"cdna_length": 896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "ENST00000503988.1",
"protein_id": "ENSP00000422729.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 58,
"cds_start": 172,
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"cdna_start": 1022,
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"cdna_length": 1027,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.205A>T",
"hgvs_p": "p.Asn69Tyr",
"transcript": "XM_005262778.4",
"protein_id": "XP_005262835.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 189,
"cds_start": 205,
"cds_end": null,
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"cdna_start": 1118,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Asn58Tyr",
"transcript": "XM_017007820.3",
"protein_id": "XP_016863309.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 178,
"cds_start": 172,
"cds_end": null,
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"cdna_start": 1243,
"cdna_end": null,
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"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "n.*182A>T",
"hgvs_p": null,
"transcript": "ENST00000507543.5",
"protein_id": "ENSP00000422386.1",
"transcript_support_level": 5,
"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": 1874,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTD",
"gene_hgnc_id": 2710,
"hgvs_c": "n.*361A>T",
"hgvs_p": null,
"transcript": "ENST00000509218.5",
"protein_id": "ENSP00000427470.1",
"transcript_support_level": 5,
"aa_start": null,
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}
],
"message": null
}