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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: 5-78039239-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=78039239&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 78039239,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003664.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2613C>A",
"hgvs_p": "p.His871Gln",
"transcript": "NM_003664.5",
"protein_id": "NP_003655.3",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": "ENST00000255194.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003664.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2613C>A",
"hgvs_p": "p.His871Gln",
"transcript": "ENST00000255194.11",
"protein_id": "ENSP00000255194.7",
"transcript_support_level": 1,
"aa_start": 871,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": "NM_003664.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255194.11"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2466C>A",
"hgvs_p": "p.His822Gln",
"transcript": "ENST00000519295.7",
"protein_id": "ENSP00000430597.1",
"transcript_support_level": 1,
"aa_start": 822,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2466,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 14714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519295.7"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2613C>A",
"hgvs_p": "p.His871Gln",
"transcript": "ENST00000913629.1",
"protein_id": "ENSP00000583688.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913629.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2607C>A",
"hgvs_p": "p.His869Gln",
"transcript": "ENST00000909857.1",
"protein_id": "ENSP00000579916.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2607,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 2758,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909857.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2604C>A",
"hgvs_p": "p.His868Gln",
"transcript": "ENST00000913630.1",
"protein_id": "ENSP00000583689.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2604,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2721,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913630.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2613C>A",
"hgvs_p": "p.His871Gln",
"transcript": "ENST00000695515.1",
"protein_id": "ENSP00000511978.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2613,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695515.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2613C>A",
"hgvs_p": "p.His871Gln",
"transcript": "ENST00000695511.1",
"protein_id": "ENSP00000511974.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695511.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2613C>A",
"hgvs_p": "p.His871Gln",
"transcript": "ENST00000959993.1",
"protein_id": "ENSP00000630052.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2722,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959993.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2607C>A",
"hgvs_p": "p.His869Gln",
"transcript": "ENST00000695454.1",
"protein_id": "ENSP00000511922.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2607,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695454.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2478C>A",
"hgvs_p": "p.His826Gln",
"transcript": "ENST00000695513.1",
"protein_id": "ENSP00000511976.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2478,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695513.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2466C>A",
"hgvs_p": "p.His822Gln",
"transcript": "NM_001271769.2",
"protein_id": "NP_001258698.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2466,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 2744,
"cdna_end": null,
"cdna_length": 5796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271769.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2436C>A",
"hgvs_p": "p.His812Gln",
"transcript": "ENST00000909858.1",
"protein_id": "ENSP00000579917.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2436,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909858.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2556C>A",
"hgvs_p": "p.His852Gln",
"transcript": "ENST00000695453.1",
"protein_id": "ENSP00000511921.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695453.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2433C>A",
"hgvs_p": "p.His811Gln",
"transcript": "ENST00000695512.1",
"protein_id": "ENSP00000511975.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2433,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 3794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695512.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2613C>A",
"hgvs_p": "p.His871Gln",
"transcript": "ENST00000695510.1",
"protein_id": "ENSP00000511973.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 3833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695510.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2466C>A",
"hgvs_p": "p.His822Gln",
"transcript": "ENST00000695455.1",
"protein_id": "ENSP00000511923.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2466,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2741,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695455.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.2289C>A",
"hgvs_p": "p.His763Gln",
"transcript": "ENST00000913631.1",
"protein_id": "ENSP00000583690.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 986,
"cds_start": 2289,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913631.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "c.1812C>A",
"hgvs_p": "p.His604Gln",
"transcript": "ENST00000695450.1",
"protein_id": "ENSP00000511919.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 827,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "n.413C>A",
"hgvs_p": null,
"transcript": "ENST00000523204.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000523204.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "n.2506C>A",
"hgvs_p": null,
"transcript": "ENST00000695447.1",
"protein_id": "ENSP00000511917.1",
"transcript_support_level": null,
"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": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3B1",
"gene_hgnc_id": 566,
"hgvs_c": "n.*2375C>A",
"hgvs_p": null,
"transcript": "ENST00000695451.1",
"protein_id": "ENSP00000511920.1",
"transcript_support_level": null,
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}
],
"message": null
}