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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: 10-43128165-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=43128165&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 43128165,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355710.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3241G>A",
"hgvs_p": "p.Asp1081Asn",
"transcript": "NM_020975.6",
"protein_id": "NP_066124.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3241,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": "ENST00000355710.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3241G>A",
"hgvs_p": "p.Asp1081Asn",
"transcript": "ENST00000355710.8",
"protein_id": "ENSP00000347942.3",
"transcript_support_level": 5,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3241,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": "NM_020975.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3241G>A",
"hgvs_p": "p.Asp1081Asn",
"transcript": "NM_001406743.1",
"protein_id": "NP_001393672.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3241,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>A",
"hgvs_p": "p.Asp1061Asn",
"transcript": "NM_001406759.1",
"protein_id": "NP_001393688.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3181G>A",
"hgvs_p": "p.Asp1061Asn",
"transcript": "NM_001406760.1",
"protein_id": "NP_001393689.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3112G>A",
"hgvs_p": "p.Asp1038Asn",
"transcript": "NM_001406761.1",
"protein_id": "NP_001393690.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1071,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3112G>A",
"hgvs_p": "p.Asp1038Asn",
"transcript": "NM_001406762.1",
"protein_id": "NP_001393691.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1071,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3302,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.3106G>A",
"hgvs_p": "p.Asp1036Asn",
"transcript": "NM_001406763.1",
"protein_id": "NP_001393692.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3106,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2953G>A",
"hgvs_p": "p.Asp985Asn",
"transcript": "NM_001406766.1",
"protein_id": "NP_001393695.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2953,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2953G>A",
"hgvs_p": "p.Asp985Asn",
"transcript": "NM_001406767.1",
"protein_id": "NP_001393696.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2953,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2845G>A",
"hgvs_p": "p.Asp949Asn",
"transcript": "NM_001406769.1",
"protein_id": "NP_001393698.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 982,
"cds_start": 2845,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 3035,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2803G>A",
"hgvs_p": "p.Asp935Asn",
"transcript": "NM_001406771.1",
"protein_id": "NP_001393700.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 968,
"cds_start": 2803,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 5179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2515G>A",
"hgvs_p": "p.Asp839Asn",
"transcript": "NM_001406775.1",
"protein_id": "NP_001393704.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 872,
"cds_start": 2515,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2705,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2455G>A",
"hgvs_p": "p.Asp819Asn",
"transcript": "NM_001406777.1",
"protein_id": "NP_001393706.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 852,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 4831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2344G>A",
"hgvs_p": "p.Asp782Asn",
"transcript": "NM_001406779.1",
"protein_id": "NP_001393708.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 815,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2344G>A",
"hgvs_p": "p.Asp782Asn",
"transcript": "NM_001406780.1",
"protein_id": "NP_001393709.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 815,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2215G>A",
"hgvs_p": "p.Asp739Asn",
"transcript": "NM_001406783.1",
"protein_id": "NP_001393712.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 772,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2056G>A",
"hgvs_p": "p.Asp686Asn",
"transcript": "NM_001406788.1",
"protein_id": "NP_001393717.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 719,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 4432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.2056G>A",
"hgvs_p": "p.Asp686Asn",
"transcript": "NM_001406789.1",
"protein_id": "NP_001393718.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 719,
"cds_start": 2056,
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"cds_length": 2160,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1792G>A",
"hgvs_p": "p.Asp598Asn",
"transcript": "NM_001406792.1",
"protein_id": "NP_001393721.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 631,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1732G>A",
"hgvs_p": "p.Asp578Asn",
"transcript": "NM_001406793.1",
"protein_id": "NP_001393722.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 611,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1922,
"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.4204G>A",
"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_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Multiple endocrine neoplasia, type 2|Hereditary cancer-predisposing syndrome|Hirschsprung disease, susceptibility to, 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}