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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: 15-71826742-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=71826742&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 71826742,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006901.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7485G>A",
"hgvs_p": "p.Pro2495Pro",
"transcript": "NM_006901.4",
"protein_id": "NP_008832.2",
"transcript_support_level": null,
"aa_start": 2495,
"aa_end": null,
"aa_length": 2548,
"cds_start": 7485,
"cds_end": null,
"cds_length": 7647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356056.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006901.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7485G>A",
"hgvs_p": "p.Pro2495Pro",
"transcript": "ENST00000356056.10",
"protein_id": "ENSP00000348349.5",
"transcript_support_level": 1,
"aa_start": 2495,
"aa_end": null,
"aa_length": 2548,
"cds_start": 7485,
"cds_end": null,
"cds_length": 7647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006901.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356056.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.4032G>A",
"hgvs_p": "p.Pro1344Pro",
"transcript": "ENST00000561618.5",
"protein_id": "ENSP00000457945.1",
"transcript_support_level": 1,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1397,
"cds_start": 4032,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561618.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.*290G>A",
"hgvs_p": null,
"transcript": "ENST00000564571.5",
"protein_id": "ENSP00000456192.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2396,
"cds_start": null,
"cds_end": null,
"cds_length": 7191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564571.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7617G>A",
"hgvs_p": "p.Pro2539Pro",
"transcript": "ENST00000971716.1",
"protein_id": "ENSP00000641775.1",
"transcript_support_level": null,
"aa_start": 2539,
"aa_end": null,
"aa_length": 2592,
"cds_start": 7617,
"cds_end": null,
"cds_length": 7779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971716.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7524G>A",
"hgvs_p": "p.Pro2508Pro",
"transcript": "ENST00000922047.1",
"protein_id": "ENSP00000592106.1",
"transcript_support_level": null,
"aa_start": 2508,
"aa_end": null,
"aa_length": 2561,
"cds_start": 7524,
"cds_end": null,
"cds_length": 7686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922047.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7428G>A",
"hgvs_p": "p.Pro2476Pro",
"transcript": "ENST00000971717.1",
"protein_id": "ENSP00000641776.1",
"transcript_support_level": null,
"aa_start": 2476,
"aa_end": null,
"aa_length": 2529,
"cds_start": 7428,
"cds_end": null,
"cds_length": 7590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971717.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.1227G>A",
"hgvs_p": "p.Pro409Pro",
"transcript": "ENST00000568042.5",
"protein_id": "ENSP00000457407.1",
"transcript_support_level": 5,
"aa_start": 409,
"aa_end": null,
"aa_length": 462,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568042.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7755G>A",
"hgvs_p": "p.Pro2585Pro",
"transcript": "XM_011521613.4",
"protein_id": "XP_011519915.1",
"transcript_support_level": null,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7755,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521613.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7755G>A",
"hgvs_p": "p.Pro2585Pro",
"transcript": "XM_011521614.4",
"protein_id": "XP_011519916.1",
"transcript_support_level": null,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7755,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521614.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7755G>A",
"hgvs_p": "p.Pro2585Pro",
"transcript": "XM_011521615.4",
"protein_id": "XP_011519917.1",
"transcript_support_level": null,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7755,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521615.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7755G>A",
"hgvs_p": "p.Pro2585Pro",
"transcript": "XM_011521616.4",
"protein_id": "XP_011519918.1",
"transcript_support_level": null,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7755,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521616.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7752G>A",
"hgvs_p": "p.Pro2584Pro",
"transcript": "XM_011521617.4",
"protein_id": "XP_011519919.1",
"transcript_support_level": null,
"aa_start": 2584,
"aa_end": null,
"aa_length": 2637,
"cds_start": 7752,
"cds_end": null,
"cds_length": 7914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521617.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7752G>A",
"hgvs_p": "p.Pro2584Pro",
"transcript": "XM_047432547.1",
"protein_id": "XP_047288503.1",
"transcript_support_level": null,
"aa_start": 2584,
"aa_end": null,
"aa_length": 2637,
"cds_start": 7752,
"cds_end": null,
"cds_length": 7914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432547.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7752G>A",
"hgvs_p": "p.Pro2584Pro",
"transcript": "XM_047432548.1",
"protein_id": "XP_047288504.1",
"transcript_support_level": null,
"aa_start": 2584,
"aa_end": null,
"aa_length": 2637,
"cds_start": 7752,
"cds_end": null,
"cds_length": 7914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432548.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7701G>A",
"hgvs_p": "p.Pro2567Pro",
"transcript": "XM_011521618.4",
"protein_id": "XP_011519920.1",
"transcript_support_level": null,
"aa_start": 2567,
"aa_end": null,
"aa_length": 2620,
"cds_start": 7701,
"cds_end": null,
"cds_length": 7863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521618.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7698G>A",
"hgvs_p": "p.Pro2566Pro",
"transcript": "XM_006720539.4",
"protein_id": "XP_006720602.1",
"transcript_support_level": null,
"aa_start": 2566,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7698,
"cds_end": null,
"cds_length": 7860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720539.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7698G>A",
"hgvs_p": "p.Pro2566Pro",
"transcript": "XM_011521619.4",
"protein_id": "XP_011519921.1",
"transcript_support_level": null,
"aa_start": 2566,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7698,
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"cds_length": 7860,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521619.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7698G>A",
"hgvs_p": "p.Pro2566Pro",
"transcript": "XM_047432549.1",
"protein_id": "XP_047288505.1",
"transcript_support_level": null,
"aa_start": 2566,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7698,
"cds_end": null,
"cds_length": 7860,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432549.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7698G>A",
"hgvs_p": "p.Pro2566Pro",
"transcript": "XM_047432550.1",
"protein_id": "XP_047288506.1",
"transcript_support_level": null,
"aa_start": 2566,
"aa_end": null,
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"cds_start": 7698,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432550.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7698G>A",
"hgvs_p": "p.Pro2566Pro",
"transcript": "XM_047432551.1",
"protein_id": "XP_047288507.1",
"transcript_support_level": null,
"aa_start": 2566,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7698,
"cds_end": null,
"cds_length": 7860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432551.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7698G>A",
"hgvs_p": "p.Pro2566Pro",
"transcript": "XM_047432552.1",
"protein_id": "XP_047288508.1",
"transcript_support_level": null,
"aa_start": 2566,
"aa_end": null,
"aa_length": 2619,
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{
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"BP7",
"BS2"
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"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
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"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}