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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: 2-43974244-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43974244&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43974244,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_133259.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "NM_133259.4",
"protein_id": "NP_573566.2",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1394,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260665.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133259.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000260665.12",
"protein_id": "ENSP00000260665.7",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 1394,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133259.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260665.12"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000447246.2",
"protein_id": "ENSP00000403637.2",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 837,
"cds_start": 1061,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447246.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000409946.6",
"protein_id": "ENSP00000386234.1",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 531,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409946.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000683125.1",
"protein_id": "ENSP00000507939.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1430,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683125.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000958038.1",
"protein_id": "ENSP00000628097.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1407,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958038.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000683220.1",
"protein_id": "ENSP00000507151.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1404,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683220.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1082C>T",
"hgvs_p": "p.Ala361Val",
"transcript": "ENST00000918909.1",
"protein_id": "ENSP00000588968.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 1401,
"cds_start": 1082,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918909.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000682480.1",
"protein_id": "ENSP00000508344.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1400,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682480.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1064C>T",
"hgvs_p": "p.Ala355Val",
"transcript": "ENST00000683213.1",
"protein_id": "ENSP00000507751.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1395,
"cds_start": 1064,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683213.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000682546.1",
"protein_id": "ENSP00000508188.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1393,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682546.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000903379.1",
"protein_id": "ENSP00000573438.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1392,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903379.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Ala351Val",
"transcript": "ENST00000682779.1",
"protein_id": "ENSP00000507947.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 1391,
"cds_start": 1052,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682779.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000918907.1",
"protein_id": "ENSP00000588966.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1390,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918907.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1049C>T",
"hgvs_p": "p.Ala350Val",
"transcript": "ENST00000958036.1",
"protein_id": "ENSP00000628095.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1390,
"cds_start": 1049,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958036.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000682885.1",
"protein_id": "ENSP00000508036.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1379,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682885.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000918906.1",
"protein_id": "ENSP00000588965.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1375,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918906.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000682308.1",
"protein_id": "ENSP00000507056.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1369,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682308.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000918910.1",
"protein_id": "ENSP00000588969.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1369,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918910.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Ala351Val",
"transcript": "ENST00000683833.1",
"protein_id": "ENSP00000506852.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 1366,
"cds_start": 1052,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683833.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.974C>T",
"hgvs_p": "p.Ala325Val",
"transcript": "ENST00000918908.1",
"protein_id": "ENSP00000588967.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 1365,
"cds_start": 974,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918908.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000683623.1",
"protein_id": "ENSP00000507702.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1363,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4092,
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"clinvar_disease": " Saguenay-Lac-Saint-Jean type,Congenital lactic acidosis,LRPPRC-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|not provided|LRPPRC-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}