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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: 4-48505590-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=48505590&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 48505590,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015030.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8420T>G",
"hgvs_p": "p.Phe2807Cys",
"transcript": "NM_015030.2",
"protein_id": "NP_055845.1",
"transcript_support_level": null,
"aa_start": 2807,
"aa_end": null,
"aa_length": 3013,
"cds_start": 8420,
"cds_end": null,
"cds_length": 9042,
"cdna_start": 9005,
"cdna_end": null,
"cdna_length": 11692,
"mane_select": "ENST00000358350.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015030.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8420T>G",
"hgvs_p": "p.Phe2807Cys",
"transcript": "ENST00000358350.9",
"protein_id": "ENSP00000351113.4",
"transcript_support_level": 5,
"aa_start": 2807,
"aa_end": null,
"aa_length": 3013,
"cds_start": 8420,
"cds_end": null,
"cds_length": 9042,
"cdna_start": 9005,
"cdna_end": null,
"cdna_length": 11692,
"mane_select": "NM_015030.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358350.9"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8420T>G",
"hgvs_p": "p.Phe2807Cys",
"transcript": "ENST00000507873.8",
"protein_id": "ENSP00000422408.4",
"transcript_support_level": 1,
"aa_start": 2807,
"aa_end": null,
"aa_length": 3007,
"cds_start": 8420,
"cds_end": null,
"cds_length": 9024,
"cdna_start": 8420,
"cdna_end": null,
"cdna_length": 10905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507873.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "n.893T>G",
"hgvs_p": null,
"transcript": "ENST00000512810.1",
"protein_id": null,
"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": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000512810.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8465T>G",
"hgvs_p": "p.Phe2822Cys",
"transcript": "ENST00000926452.1",
"protein_id": "ENSP00000596511.1",
"transcript_support_level": null,
"aa_start": 2822,
"aa_end": null,
"aa_length": 3022,
"cds_start": 8465,
"cds_end": null,
"cds_length": 9069,
"cdna_start": 9087,
"cdna_end": null,
"cdna_length": 11748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926452.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.4067T>G",
"hgvs_p": "p.Phe1356Cys",
"transcript": "ENST00000641795.1",
"protein_id": "ENSP00000493144.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 1562,
"cds_start": 4067,
"cds_end": null,
"cds_length": 4689,
"cdna_start": 4068,
"cdna_end": null,
"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641795.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8741T>G",
"hgvs_p": "p.Phe2914Cys",
"transcript": "XM_024453988.2",
"protein_id": "XP_024309756.1",
"transcript_support_level": null,
"aa_start": 2914,
"aa_end": null,
"aa_length": 3120,
"cds_start": 8741,
"cds_end": null,
"cds_length": 9363,
"cdna_start": 8826,
"cdna_end": null,
"cdna_length": 11513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453988.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8738T>G",
"hgvs_p": "p.Phe2913Cys",
"transcript": "XM_011513680.4",
"protein_id": "XP_011511982.2",
"transcript_support_level": null,
"aa_start": 2913,
"aa_end": null,
"aa_length": 3119,
"cds_start": 8738,
"cds_end": null,
"cds_length": 9360,
"cdna_start": 8823,
"cdna_end": null,
"cdna_length": 11510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513680.4"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8741T>G",
"hgvs_p": "p.Phe2914Cys",
"transcript": "XM_011513681.4",
"protein_id": "XP_011511983.2",
"transcript_support_level": null,
"aa_start": 2914,
"aa_end": null,
"aa_length": 3114,
"cds_start": 8741,
"cds_end": null,
"cds_length": 9345,
"cdna_start": 8826,
"cdna_end": null,
"cdna_length": 11495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513681.4"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8738T>G",
"hgvs_p": "p.Phe2913Cys",
"transcript": "XM_047450095.1",
"protein_id": "XP_047306051.1",
"transcript_support_level": null,
"aa_start": 2913,
"aa_end": null,
"aa_length": 3113,
"cds_start": 8738,
"cds_end": null,
"cds_length": 9342,
"cdna_start": 8823,
"cdna_end": null,
"cdna_length": 11492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450095.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8696T>G",
"hgvs_p": "p.Phe2899Cys",
"transcript": "XM_024453989.2",
"protein_id": "XP_024309757.1",
"transcript_support_level": null,
"aa_start": 2899,
"aa_end": null,
"aa_length": 3105,
"cds_start": 8696,
"cds_end": null,
"cds_length": 9318,
"cdna_start": 8781,
"cdna_end": null,
"cdna_length": 11468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453989.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8693T>G",
"hgvs_p": "p.Phe2898Cys",
"transcript": "XM_047450097.1",
"protein_id": "XP_047306053.1",
"transcript_support_level": null,
"aa_start": 2898,
"aa_end": null,
"aa_length": 3104,
"cds_start": 8693,
"cds_end": null,
"cds_length": 9315,
"cdna_start": 8778,
"cdna_end": null,
"cdna_length": 11465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450097.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8696T>G",
"hgvs_p": "p.Phe2899Cys",
"transcript": "XM_011513682.4",
"protein_id": "XP_011511984.2",
"transcript_support_level": null,
"aa_start": 2899,
"aa_end": null,
"aa_length": 3099,
"cds_start": 8696,
"cds_end": null,
"cds_length": 9300,
"cdna_start": 8781,
"cdna_end": null,
"cdna_length": 11450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513682.4"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8693T>G",
"hgvs_p": "p.Phe2898Cys",
"transcript": "XM_047450098.1",
"protein_id": "XP_047306054.1",
"transcript_support_level": null,
"aa_start": 2898,
"aa_end": null,
"aa_length": 3098,
"cds_start": 8693,
"cds_end": null,
"cds_length": 9297,
"cdna_start": 8778,
"cdna_end": null,
"cdna_length": 11447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450098.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8465T>G",
"hgvs_p": "p.Phe2822Cys",
"transcript": "XM_005248090.6",
"protein_id": "XP_005248147.1",
"transcript_support_level": null,
"aa_start": 2822,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8465,
"cds_end": null,
"cds_length": 9087,
"cdna_start": 9050,
"cdna_end": null,
"cdna_length": 11737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248090.6"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8465T>G",
"hgvs_p": "p.Phe2822Cys",
"transcript": "XM_011513683.4",
"protein_id": "XP_011511985.1",
"transcript_support_level": null,
"aa_start": 2822,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8465,
"cds_end": null,
"cds_length": 9087,
"cdna_start": 8927,
"cdna_end": null,
"cdna_length": 11614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513683.4"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8465T>G",
"hgvs_p": "p.Phe2822Cys",
"transcript": "XM_024453991.2",
"protein_id": "XP_024309759.1",
"transcript_support_level": null,
"aa_start": 2822,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8465,
"cds_end": null,
"cds_length": 9087,
"cdna_start": 8870,
"cdna_end": null,
"cdna_length": 11557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453991.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8465T>G",
"hgvs_p": "p.Phe2822Cys",
"transcript": "XM_024453992.2",
"protein_id": "XP_024309760.1",
"transcript_support_level": null,
"aa_start": 2822,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8465,
"cds_end": null,
"cds_length": 9087,
"cdna_start": 16495,
"cdna_end": null,
"cdna_length": 19182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453992.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8465T>G",
"hgvs_p": "p.Phe2822Cys",
"transcript": "XM_047450099.1",
"protein_id": "XP_047306055.1",
"transcript_support_level": null,
"aa_start": 2822,
"aa_end": null,
"aa_length": 3028,
"cds_start": 8465,
"cds_end": null,
"cds_length": 9087,
"cdna_start": 22021,
"cdna_end": null,
"cdna_length": 24708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450099.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.8420T>G",
"hgvs_p": "p.Phe2807Cys",
"transcript": "XM_024453993.2",
"protein_id": "XP_024309761.1",
"transcript_support_level": null,
"aa_start": 2807,
"aa_end": null,
"aa_length": 3013,
"cds_start": 8420,
"cds_end": null,
"cds_length": 9042,
"cdna_start": 8882,
"cdna_end": null,
"cdna_length": 11569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453993.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.5519T>G",
"hgvs_p": "p.Phe1840Cys",
"transcript": "XM_047450100.1",
"protein_id": "XP_047306056.1",
"transcript_support_level": null,
"aa_start": 1840,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5519,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 5539,
"cdna_end": null,
"cdna_length": 8226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450100.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRYL",
"gene_hgnc_id": 29127,
"hgvs_c": "c.5513T>G",
"hgvs_p": "p.Phe1838Cys",
"transcript": "XM_005248093.6",
"protein_id": "XP_005248150.1",
"transcript_support_level": null,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Pathogenic",
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{
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"PP3"
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}