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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: 13-36965644-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36965644&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 36965644,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_013338.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Gln235Leu",
"transcript": "NM_013338.5",
"protein_id": "NP_037470.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 324,
"cds_start": 704,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000239891.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013338.5"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Gln235Leu",
"transcript": "ENST00000239891.4",
"protein_id": "ENSP00000239891.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 324,
"cds_start": 704,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013338.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000239891.4"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.797A>T",
"hgvs_p": "p.Gln266Leu",
"transcript": "ENST00000857206.1",
"protein_id": "ENSP00000527265.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 355,
"cds_start": 797,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857206.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.683A>T",
"hgvs_p": "p.Gln228Leu",
"transcript": "ENST00000857208.1",
"protein_id": "ENSP00000527267.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 317,
"cds_start": 683,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857208.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Gln235Leu",
"transcript": "ENST00000679572.1",
"protein_id": "ENSP00000505481.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 310,
"cds_start": 704,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679572.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.644A>T",
"hgvs_p": "p.Gln215Leu",
"transcript": "ENST00000680671.1",
"protein_id": "ENSP00000506352.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 304,
"cds_start": 644,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680671.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.614A>T",
"hgvs_p": "p.Gln205Leu",
"transcript": "NM_001142364.1",
"protein_id": "NP_001135836.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 294,
"cds_start": 614,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142364.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.614A>T",
"hgvs_p": "p.Gln205Leu",
"transcript": "ENST00000443765.6",
"protein_id": "ENSP00000390533.1",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 294,
"cds_start": 614,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443765.6"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.611A>T",
"hgvs_p": "p.Gln204Leu",
"transcript": "ENST00000857204.1",
"protein_id": "ENSP00000527264.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 293,
"cds_start": 611,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857204.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.605A>T",
"hgvs_p": "p.Gln202Leu",
"transcript": "ENST00000681016.1",
"protein_id": "ENSP00000505412.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 291,
"cds_start": 605,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681016.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.605A>T",
"hgvs_p": "p.Gln202Leu",
"transcript": "ENST00000681893.1",
"protein_id": "ENSP00000506235.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 291,
"cds_start": 605,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681893.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.590A>T",
"hgvs_p": "p.Gln197Leu",
"transcript": "ENST00000679837.1",
"protein_id": "ENSP00000505491.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 286,
"cds_start": 590,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679837.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.530A>T",
"hgvs_p": "p.Gln177Leu",
"transcript": "ENST00000857207.1",
"protein_id": "ENSP00000527266.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 266,
"cds_start": 530,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857207.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.704A>T",
"hgvs_p": "p.Gln235Leu",
"transcript": "ENST00000681763.1",
"protein_id": "ENSP00000506186.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 259,
"cds_start": 704,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681763.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.485A>T",
"hgvs_p": "p.Gln162Leu",
"transcript": "ENST00000679673.1",
"protein_id": "ENSP00000505408.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 251,
"cds_start": 485,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679673.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.371A>T",
"hgvs_p": "p.Gln124Leu",
"transcript": "ENST00000939859.1",
"protein_id": "ENSP00000609918.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 213,
"cds_start": 371,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939859.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.515A>T",
"hgvs_p": "p.Gln172Leu",
"transcript": "XM_047430283.1",
"protein_id": "XP_047286239.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 261,
"cds_start": 515,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430283.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "c.507+6333A>T",
"hgvs_p": null,
"transcript": "ENST00000680012.1",
"protein_id": "ENSP00000504993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680012.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "n.468A>T",
"hgvs_p": null,
"transcript": "ENST00000460230.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460230.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "n.921A>T",
"hgvs_p": null,
"transcript": "ENST00000496689.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496689.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "n.1281A>T",
"hgvs_p": null,
"transcript": "ENST00000679760.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679760.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG5",
"gene_hgnc_id": 20266,
"hgvs_c": "n.930A>T",
"hgvs_p": null,
"transcript": "ENST00000680127.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680127.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"phenotype_combined": "Polycystic kidney disease 7",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}