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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: 14-31026088-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=31026088&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 31026088,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001083893.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "NM_001083893.2",
"protein_id": "NP_001077362.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 797,
"cds_start": 98,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357479.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083893.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "ENST00000357479.10",
"protein_id": "ENSP00000350071.5",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 797,
"cds_start": 98,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083893.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357479.10"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "ENST00000355683.9",
"protein_id": "ENSP00000347909.5",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 713,
"cds_start": 98,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355683.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.-72+301C>T",
"hgvs_p": null,
"transcript": "NM_001128126.3",
"protein_id": "NP_001121598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000542754.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128126.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.-72+301C>T",
"hgvs_p": null,
"transcript": "ENST00000542754.7",
"protein_id": "ENSP00000438170.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128126.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542754.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.-72+301C>T",
"hgvs_p": null,
"transcript": "ENST00000334725.8",
"protein_id": "ENSP00000334484.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334725.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "n.98G>A",
"hgvs_p": null,
"transcript": "ENST00000555358.5",
"protein_id": "ENSP00000451028.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555358.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "ENST00000964547.1",
"protein_id": "ENSP00000634606.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 796,
"cds_start": 98,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964547.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "ENST00000964548.1",
"protein_id": "ENSP00000634607.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 722,
"cds_start": 98,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964548.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "NM_014574.4",
"protein_id": "NP_055389.3",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 713,
"cds_start": 98,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014574.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "ENST00000937939.1",
"protein_id": "ENSP00000607998.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 712,
"cds_start": 98,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937939.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "ENST00000964550.1",
"protein_id": "ENSP00000634609.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 681,
"cds_start": 98,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964550.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "ENST00000964549.1",
"protein_id": "ENSP00000634608.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 680,
"cds_start": 98,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964549.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "ENST00000964546.1",
"protein_id": "ENSP00000634605.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 666,
"cds_start": 98,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964546.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "ENST00000964551.1",
"protein_id": "ENSP00000634610.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 610,
"cds_start": 98,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964551.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "XM_005267569.5",
"protein_id": "XP_005267626.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 760,
"cds_start": 98,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267569.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRN3",
"gene_hgnc_id": 15720,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Gly33Glu",
"transcript": "XM_005267570.5",
"protein_id": "XP_005267627.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 750,
"cds_start": 98,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267570.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.-72+301C>T",
"hgvs_p": null,
"transcript": "ENST00000313566.11",
"protein_id": "ENSP00000322508.8",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313566.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.-72+301C>T",
"hgvs_p": null,
"transcript": "NM_007077.5",
"protein_id": "NP_009008.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007077.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.-72+301C>T",
"hgvs_p": null,
"transcript": "ENST00000554345.6",
"protein_id": "ENSP00000450768.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554345.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.-72+301C>T",
"hgvs_p": null,
"transcript": "NM_001254727.2",
"protein_id": "NP_001241656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001254727.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.-72+790C>T",
"hgvs_p": null,
"transcript": "NM_001254729.2",
"protein_id": "NP_001241658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001254729.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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{
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{
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],
"clinvar_disease": "not specified",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}