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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: 1-3815451-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3815451&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3815451,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014704.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2729C>T",
"hgvs_p": "p.Pro910Leu",
"transcript": "NM_014704.4",
"protein_id": "NP_055519.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 925,
"cds_start": 2729,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378230.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014704.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2729C>T",
"hgvs_p": "p.Pro910Leu",
"transcript": "ENST00000378230.8",
"protein_id": "ENSP00000367476.3",
"transcript_support_level": 5,
"aa_start": 910,
"aa_end": null,
"aa_length": 925,
"cds_start": 2729,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014704.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378230.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2747C>T",
"hgvs_p": "p.Pro916Leu",
"transcript": "ENST00000676052.1",
"protein_id": "ENSP00000502793.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 931,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676052.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2729C>T",
"hgvs_p": "p.Pro910Leu",
"transcript": "ENST00000674558.1",
"protein_id": "ENSP00000501829.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 925,
"cds_start": 2729,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674558.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2729C>T",
"hgvs_p": "p.Pro910Leu",
"transcript": "ENST00000674623.1",
"protein_id": "ENSP00000501733.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 925,
"cds_start": 2729,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674623.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2729C>T",
"hgvs_p": "p.Pro910Leu",
"transcript": "ENST00000894371.1",
"protein_id": "ENSP00000564430.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 925,
"cds_start": 2729,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894371.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2729C>T",
"hgvs_p": "p.Pro910Leu",
"transcript": "ENST00000894372.1",
"protein_id": "ENSP00000564431.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 925,
"cds_start": 2729,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894372.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2729C>T",
"hgvs_p": "p.Pro910Leu",
"transcript": "ENST00000923947.1",
"protein_id": "ENSP00000594006.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 925,
"cds_start": 2729,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923947.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2723C>T",
"hgvs_p": "p.Pro908Leu",
"transcript": "ENST00000923946.1",
"protein_id": "ENSP00000594005.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 923,
"cds_start": 2723,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923946.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2555C>T",
"hgvs_p": "p.Pro852Leu",
"transcript": "ENST00000674544.1",
"protein_id": "ENSP00000502641.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 867,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674544.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2555C>T",
"hgvs_p": "p.Pro852Leu",
"transcript": "ENST00000675375.1",
"protein_id": "ENSP00000502180.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 867,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675375.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2555C>T",
"hgvs_p": "p.Pro852Leu",
"transcript": "ENST00000894373.1",
"protein_id": "ENSP00000564432.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 867,
"cds_start": 2555,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894373.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2531C>T",
"hgvs_p": "p.Pro844Leu",
"transcript": "ENST00000675677.1",
"protein_id": "ENSP00000501944.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 859,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675677.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2531C>T",
"hgvs_p": "p.Pro844Leu",
"transcript": "ENST00000923945.1",
"protein_id": "ENSP00000594004.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 859,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923945.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2522C>T",
"hgvs_p": "p.Pro841Leu",
"transcript": "ENST00000955290.1",
"protein_id": "ENSP00000625349.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 856,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955290.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2324C>T",
"hgvs_p": "p.Pro775Leu",
"transcript": "ENST00000955291.1",
"protein_id": "ENSP00000625350.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 790,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955291.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2855C>T",
"hgvs_p": "p.Pro952Leu",
"transcript": "XM_024451101.2",
"protein_id": "XP_024306869.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 967,
"cds_start": 2855,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451101.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2837C>T",
"hgvs_p": "p.Pro946Leu",
"transcript": "XM_005244815.5",
"protein_id": "XP_005244872.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 961,
"cds_start": 2837,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244815.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2681C>T",
"hgvs_p": "p.Pro894Leu",
"transcript": "XM_024451102.2",
"protein_id": "XP_024306870.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 909,
"cds_start": 2681,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451102.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2663C>T",
"hgvs_p": "p.Pro888Leu",
"transcript": "XM_047435158.1",
"protein_id": "XP_047291114.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 903,
"cds_start": 2663,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435158.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2657C>T",
"hgvs_p": "p.Pro886Leu",
"transcript": "XM_024451104.2",
"protein_id": "XP_024306872.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 901,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451104.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP104",
"gene_hgnc_id": 24866,
"hgvs_c": "c.2639C>T",
"hgvs_p": "p.Pro880Leu",
"transcript": "XM_047435161.1",
"protein_id": "XP_047291117.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 895,
"cds_start": 2639,
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}
],
"message": null
}