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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: 4-1338429-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1338429&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1338429,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001017405.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Tyr303His",
"transcript": "NM_001017405.3",
"protein_id": "NP_001017405.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 396,
"cds_start": 907,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303400.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017405.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Tyr303His",
"transcript": "ENST00000303400.9",
"protein_id": "ENSP00000302830.4",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 396,
"cds_start": 907,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017405.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303400.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.707T>C",
"hgvs_p": null,
"transcript": "ENST00000509531.5",
"protein_id": "ENSP00000426966.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000509531.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.1030T>C",
"hgvs_p": "p.Tyr344His",
"transcript": "ENST00000868652.1",
"protein_id": "ENSP00000538711.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 437,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868652.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.1021T>C",
"hgvs_p": "p.Tyr341His",
"transcript": "ENST00000505177.6",
"protein_id": "ENSP00000422215.2",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 434,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505177.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.931T>C",
"hgvs_p": "p.Tyr311His",
"transcript": "ENST00000868651.1",
"protein_id": "ENSP00000538710.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 404,
"cds_start": 931,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868651.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.928T>C",
"hgvs_p": "p.Tyr310His",
"transcript": "ENST00000926212.1",
"protein_id": "ENSP00000596271.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 403,
"cds_start": 928,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926212.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.928T>C",
"hgvs_p": "p.Tyr310His",
"transcript": "ENST00000967007.1",
"protein_id": "ENSP00000637066.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 403,
"cds_start": 928,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967007.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.904T>C",
"hgvs_p": "p.Tyr302His",
"transcript": "NM_001297432.2",
"protein_id": "NP_001284361.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 395,
"cds_start": 904,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297432.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.904T>C",
"hgvs_p": "p.Tyr302His",
"transcript": "ENST00000510794.5",
"protein_id": "ENSP00000426807.1",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 395,
"cds_start": 904,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510794.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"transcript": "ENST00000967008.1",
"protein_id": "ENSP00000637067.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 394,
"cds_start": 901,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967008.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.889T>C",
"hgvs_p": "p.Tyr297His",
"transcript": "ENST00000868655.1",
"protein_id": "ENSP00000538714.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 390,
"cds_start": 889,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868655.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Tyr290His",
"transcript": "ENST00000868656.1",
"protein_id": "ENSP00000538715.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 383,
"cds_start": 868,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868656.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.820T>C",
"hgvs_p": "p.Tyr274His",
"transcript": "ENST00000868654.1",
"protein_id": "ENSP00000538713.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 367,
"cds_start": 820,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868654.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "NM_005882.5",
"protein_id": "NP_005873.2",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 355,
"cds_start": 784,
"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": "NM_005882.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "ENST00000264750.10",
"protein_id": "ENSP00000264750.6",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 355,
"cds_start": 784,
"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": "ENST00000264750.10"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.763T>C",
"hgvs_p": "p.Tyr255His",
"transcript": "NM_001297433.2",
"protein_id": "NP_001284362.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 348,
"cds_start": 763,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297433.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.763T>C",
"hgvs_p": "p.Tyr255His",
"transcript": "ENST00000505839.1",
"protein_id": "ENSP00000424436.1",
"transcript_support_level": 2,
"aa_start": 255,
"aa_end": null,
"aa_length": 348,
"cds_start": 763,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505839.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Tyr247His",
"transcript": "ENST00000926210.1",
"protein_id": "ENSP00000596269.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 340,
"cds_start": 739,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926210.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.721T>C",
"hgvs_p": "p.Tyr241His",
"transcript": "ENST00000926209.1",
"protein_id": "ENSP00000596268.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 334,
"cds_start": 721,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926209.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.703T>C",
"hgvs_p": "p.Tyr235His",
"transcript": "NM_001297430.2",
"protein_id": "NP_001284359.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 328,
"cds_start": 703,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297430.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.703T>C",
"hgvs_p": "p.Tyr235His",
"transcript": "NM_001297431.2",
"protein_id": "NP_001284360.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 328,
"cds_start": 703,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297431.2"
},
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],
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{
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}