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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: 10-43128157-CGA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=43128157&ref=CGA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 43128157,
"ref": "CGA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000355710.8",
"consequences": [
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.3237_3238delAG",
"hgvs_p": "p.Arg1079fs",
"transcript": "NM_020975.6",
"protein_id": "NP_066124.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3427,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": "ENST00000355710.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.3237_3238delAG",
"hgvs_p": "p.Arg1079fs",
"transcript": "ENST00000355710.8",
"protein_id": "ENSP00000347942.3",
"transcript_support_level": 5,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3427,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": "NM_020975.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.3237_3238delAG",
"hgvs_p": "p.Arg1079fs",
"transcript": "NM_001406743.1",
"protein_id": "NP_001393672.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3427,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.3177_3178delAG",
"hgvs_p": "p.Arg1059fs",
"transcript": "NM_001406759.1",
"protein_id": "NP_001393688.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3367,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.3177_3178delAG",
"hgvs_p": "p.Arg1059fs",
"transcript": "NM_001406760.1",
"protein_id": "NP_001393689.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3367,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.3108_3109delAG",
"hgvs_p": "p.Arg1036fs",
"transcript": "NM_001406761.1",
"protein_id": "NP_001393690.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1071,
"cds_start": 3108,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3298,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.3108_3109delAG",
"hgvs_p": "p.Arg1036fs",
"transcript": "NM_001406762.1",
"protein_id": "NP_001393691.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1071,
"cds_start": 3108,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3298,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.3102_3103delAG",
"hgvs_p": "p.Arg1034fs",
"transcript": "NM_001406763.1",
"protein_id": "NP_001393692.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3292,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2949_2950delAG",
"hgvs_p": "p.Arg983fs",
"transcript": "NM_001406766.1",
"protein_id": "NP_001393695.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2949,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2949_2950delAG",
"hgvs_p": "p.Arg983fs",
"transcript": "NM_001406767.1",
"protein_id": "NP_001393696.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2949,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3139,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2841_2842delAG",
"hgvs_p": "p.Arg947fs",
"transcript": "NM_001406769.1",
"protein_id": "NP_001393698.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 982,
"cds_start": 2841,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 3031,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2799_2800delAG",
"hgvs_p": "p.Arg933fs",
"transcript": "NM_001406771.1",
"protein_id": "NP_001393700.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 968,
"cds_start": 2799,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2989,
"cdna_end": null,
"cdna_length": 5179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2511_2512delAG",
"hgvs_p": "p.Arg837fs",
"transcript": "NM_001406775.1",
"protein_id": "NP_001393704.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 872,
"cds_start": 2511,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2451_2452delAG",
"hgvs_p": "p.Arg817fs",
"transcript": "NM_001406777.1",
"protein_id": "NP_001393706.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 852,
"cds_start": 2451,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 4831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2340_2341delAG",
"hgvs_p": "p.Arg780fs",
"transcript": "NM_001406779.1",
"protein_id": "NP_001393708.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 815,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2340_2341delAG",
"hgvs_p": "p.Arg780fs",
"transcript": "NM_001406780.1",
"protein_id": "NP_001393709.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 815,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2211_2212delAG",
"hgvs_p": "p.Arg737fs",
"transcript": "NM_001406783.1",
"protein_id": "NP_001393712.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 772,
"cds_start": 2211,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2052_2053delAG",
"hgvs_p": "p.Arg684fs",
"transcript": "NM_001406788.1",
"protein_id": "NP_001393717.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 719,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 4432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2052_2053delAG",
"hgvs_p": "p.Arg684fs",
"transcript": "NM_001406789.1",
"protein_id": "NP_001393718.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 719,
"cds_start": 2052,
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"cds_length": 2160,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1788_1789delAG",
"hgvs_p": "p.Arg596fs",
"transcript": "NM_001406792.1",
"protein_id": "NP_001393721.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 631,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.1728_1729delAG",
"hgvs_p": "p.Arg576fs",
"transcript": "NM_001406793.1",
"protein_id": "NP_001393722.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 611,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "n.4200_4201delAG",
"hgvs_p": null,
"transcript": "ENST00000683007.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
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"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}