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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: 19-16377196-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16377196&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16377196,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438224.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2306C>A",
"hgvs_p": "p.Pro769His",
"transcript": "NM_001258374.3",
"protein_id": "NP_001245303.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 910,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": "ENST00000455140.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258374.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2306C>A",
"hgvs_p": "p.Pro769His",
"transcript": "ENST00000455140.7",
"protein_id": "ENSP00000393313.1",
"transcript_support_level": 2,
"aa_start": 769,
"aa_end": null,
"aa_length": 910,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": "NM_001258374.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455140.7"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2306C>A",
"hgvs_p": "p.Pro769His",
"transcript": "ENST00000248070.10",
"protein_id": "ENSP00000248070.5",
"transcript_support_level": 1,
"aa_start": 769,
"aa_end": null,
"aa_length": 864,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248070.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2247+7933C>A",
"hgvs_p": null,
"transcript": "ENST00000535753.6",
"protein_id": "ENSP00000440103.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": null,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535753.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "n.2247+7933C>A",
"hgvs_p": null,
"transcript": "ENST00000602022.5",
"protein_id": "ENSP00000471981.1",
"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": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000602022.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2312C>A",
"hgvs_p": "p.Pro771His",
"transcript": "ENST00000945606.1",
"protein_id": "ENSP00000615665.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 928,
"cds_start": 2312,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2338,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945606.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2306C>A",
"hgvs_p": "p.Pro769His",
"transcript": "NM_001438224.1",
"protein_id": "NP_001425153.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 926,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438224.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2306C>A",
"hgvs_p": "p.Pro769His",
"transcript": "ENST00000714540.1",
"protein_id": "ENSP00000519782.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 926,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714540.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2306C>A",
"hgvs_p": "p.Pro769His",
"transcript": "ENST00000945602.1",
"protein_id": "ENSP00000615661.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 925,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945602.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2306C>A",
"hgvs_p": "p.Pro769His",
"transcript": "ENST00000945603.1",
"protein_id": "ENSP00000615662.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 925,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945603.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2345C>A",
"hgvs_p": "p.Pro782His",
"transcript": "ENST00000906756.1",
"protein_id": "ENSP00000576815.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 923,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906756.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2312C>A",
"hgvs_p": "p.Pro771His",
"transcript": "ENST00000906749.1",
"protein_id": "ENSP00000576808.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 912,
"cds_start": 2312,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906749.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2228C>A",
"hgvs_p": "p.Pro743His",
"transcript": "ENST00000945608.1",
"protein_id": "ENSP00000615667.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 900,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945608.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2258C>A",
"hgvs_p": "p.Pro753His",
"transcript": "ENST00000906748.1",
"protein_id": "ENSP00000576807.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 894,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906748.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2210C>A",
"hgvs_p": "p.Pro737His",
"transcript": "ENST00000906755.1",
"protein_id": "ENSP00000576814.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 894,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906755.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2210C>A",
"hgvs_p": "p.Pro737His",
"transcript": "ENST00000945610.1",
"protein_id": "ENSP00000615669.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 878,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945610.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2306C>A",
"hgvs_p": "p.Pro769His",
"transcript": "NM_021235.3",
"protein_id": "NP_067058.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 864,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021235.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2162C>A",
"hgvs_p": "p.Pro721His",
"transcript": "ENST00000906753.1",
"protein_id": "ENSP00000576812.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 862,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906753.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2141C>A",
"hgvs_p": "p.Pro714His",
"transcript": "ENST00000945607.1",
"protein_id": "ENSP00000615666.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 855,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945607.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2072C>A",
"hgvs_p": "p.Pro691His",
"transcript": "ENST00000945604.1",
"protein_id": "ENSP00000615663.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 848,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945604.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2078C>A",
"hgvs_p": "p.Pro693His",
"transcript": "ENST00000906747.1",
"protein_id": "ENSP00000576806.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 834,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906747.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2306C>A",
"hgvs_p": "p.Pro769His",
"transcript": "NM_001438227.1",
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}
],
"message": null
}