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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: 17-40022688-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40022688&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40022688,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330211.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Lys797Glu",
"transcript": "NM_014815.4",
"protein_id": "NP_055630.2",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 989,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394128.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014815.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Lys797Glu",
"transcript": "ENST00000394128.7",
"protein_id": "ENSP00000377686.2",
"transcript_support_level": 1,
"aa_start": 797,
"aa_end": null,
"aa_length": 989,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014815.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394128.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2464A>G",
"hgvs_p": "p.Lys822Glu",
"transcript": "ENST00000394126.5",
"protein_id": "ENSP00000377684.1",
"transcript_support_level": 1,
"aa_start": 822,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2464,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394126.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.169A>G",
"hgvs_p": "p.Lys57Glu",
"transcript": "ENST00000422942.6",
"protein_id": "ENSP00000393464.2",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 292,
"cds_start": 169,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422942.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2482A>G",
"hgvs_p": "p.Lys828Glu",
"transcript": "ENST00000887917.1",
"protein_id": "ENSP00000557976.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2482,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887917.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2482A>G",
"hgvs_p": "p.Lys828Glu",
"transcript": "ENST00000972430.1",
"protein_id": "ENSP00000642489.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2482,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972430.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2470A>G",
"hgvs_p": "p.Lys824Glu",
"transcript": "ENST00000887919.1",
"protein_id": "ENSP00000557978.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2470,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887919.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2446A>G",
"hgvs_p": "p.Lys816Glu",
"transcript": "NM_001330211.2",
"protein_id": "NP_001317140.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2446,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330211.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2446A>G",
"hgvs_p": "p.Lys816Glu",
"transcript": "ENST00000501516.7",
"protein_id": "ENSP00000440100.2",
"transcript_support_level": 5,
"aa_start": 816,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2446,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000501516.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2446A>G",
"hgvs_p": "p.Lys816Glu",
"transcript": "ENST00000887920.1",
"protein_id": "ENSP00000557979.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2446,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887920.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2446A>G",
"hgvs_p": "p.Lys816Glu",
"transcript": "ENST00000931327.1",
"protein_id": "ENSP00000601386.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2446,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931327.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2446A>G",
"hgvs_p": "p.Lys816Glu",
"transcript": "ENST00000972426.1",
"protein_id": "ENSP00000642485.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2446,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972426.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2425A>G",
"hgvs_p": "p.Lys809Glu",
"transcript": "ENST00000887916.1",
"protein_id": "ENSP00000557975.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2425,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887916.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2425A>G",
"hgvs_p": "p.Lys809Glu",
"transcript": "ENST00000931326.1",
"protein_id": "ENSP00000601385.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2425,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931326.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2425A>G",
"hgvs_p": "p.Lys809Glu",
"transcript": "ENST00000931328.1",
"protein_id": "ENSP00000601387.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2425,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931328.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Lys797Glu",
"transcript": "ENST00000972427.1",
"protein_id": "ENSP00000642486.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2389,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972427.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2425A>G",
"hgvs_p": "p.Lys809Glu",
"transcript": "ENST00000887918.1",
"protein_id": "ENSP00000557977.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2425,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887918.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2410A>G",
"hgvs_p": "p.Lys804Glu",
"transcript": "ENST00000972429.1",
"protein_id": "ENSP00000642488.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 996,
"cds_start": 2410,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972429.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2407A>G",
"hgvs_p": "p.Lys803Glu",
"transcript": "ENST00000972431.1",
"protein_id": "ENSP00000642490.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 995,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972431.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Lys797Glu",
"transcript": "ENST00000931324.1",
"protein_id": "ENSP00000601383.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 989,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931324.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Lys797Glu",
"transcript": "ENST00000931329.1",
"protein_id": "ENSP00000601388.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 989,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931329.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Lys797Glu",
"transcript": "ENST00000972424.1",
"protein_id": "ENSP00000642483.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 989,
"cds_start": 2389,
"cds_end": null,
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}