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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: 21-45530909-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45530909&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 45530909,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000311124.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "NM_194255.4",
"protein_id": "NP_919231.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 591,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": "ENST00000311124.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "ENST00000311124.9",
"protein_id": "ENSP00000308895.4",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 591,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": "NM_194255.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "ENST00000567670.5",
"protein_id": "ENSP00000457278.1",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 545,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "ENST00000380010.8",
"protein_id": "ENSP00000369347.4",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 489,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Leu72Phe",
"transcript": "ENST00000417954.5",
"protein_id": "ENSP00000393988.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 268,
"cds_start": 214,
"cds_end": null,
"cds_length": 807,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "NM_001352512.2",
"protein_id": "NP_001339441.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 591,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Leu298Phe",
"transcript": "NM_001205207.3",
"protein_id": "NP_001192136.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 551,
"cds_start": 892,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Leu298Phe",
"transcript": "ENST00000485649.3",
"protein_id": "ENSP00000441772.1",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 551,
"cds_start": 892,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "NM_001205206.4",
"protein_id": "NP_001192135.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 489,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "NM_001352511.3",
"protein_id": "NP_001339440.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 489,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "ENST00000650808.1",
"protein_id": "ENSP00000498221.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 489,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Leu220Phe",
"transcript": "NM_001352510.2",
"protein_id": "NP_001339439.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 473,
"cds_start": 658,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Leu435Phe",
"transcript": "XM_011529696.3",
"protein_id": "XP_011527998.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 688,
"cds_start": 1303,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 5581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Leu435Phe",
"transcript": "XM_047440954.1",
"protein_id": "XP_047296910.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 688,
"cds_start": 1303,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 5569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Leu381Phe",
"transcript": "XM_047440956.1",
"protein_id": "XP_047296912.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 634,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 3136,
"cdna_end": null,
"cdna_length": 6993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Phe",
"transcript": "XM_011529698.3",
"protein_id": "XP_011528000.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 613,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 5310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "XM_011529700.3",
"protein_id": "XP_011528002.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 591,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "XM_011529702.3",
"protein_id": "XP_011528004.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 591,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "XM_011529703.3",
"protein_id": "XP_011528005.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 591,
"cds_start": 1012,
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"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "XM_017028443.2",
"protein_id": "XP_016883932.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 591,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1146,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.1012C>T",
"hgvs_p": "p.Leu338Phe",
"transcript": "XM_047440958.1",
"protein_id": "XP_047296914.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 591,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 5057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC19A1",
"gene_hgnc_id": 10937,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Leu292Phe",
"transcript": "XM_011529706.4",
"protein_id": "XP_011528008.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 545,
"cds_start": 874,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
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],
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{
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"BS1",
"BS2"
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"clinvar_disease": "SLC19A1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|SLC19A1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}