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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: 10-43126647-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=43126647&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 43126647,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020975.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"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.3112A>G",
"hgvs_p": "p.Thr1038Ala",
"transcript": "NM_020975.6",
"protein_id": "NP_066124.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355710.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020975.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"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.3112A>G",
"hgvs_p": "p.Thr1038Ala",
"transcript": "ENST00000355710.8",
"protein_id": "ENSP00000347942.3",
"transcript_support_level": 5,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020975.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355710.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.3112A>G",
"hgvs_p": "p.Thr1038Ala",
"transcript": "ENST00000340058.6",
"protein_id": "ENSP00000344798.4",
"transcript_support_level": 1,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1072,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340058.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.3112A>G",
"hgvs_p": "p.Thr1038Ala",
"transcript": "NM_001406743.1",
"protein_id": "NP_001393672.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406743.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.3112A>G",
"hgvs_p": "p.Thr1038Ala",
"transcript": "NM_001406744.1",
"protein_id": "NP_001393673.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406744.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.3112A>G",
"hgvs_p": "p.Thr1038Ala",
"transcript": "NM_001406759.1",
"protein_id": "NP_001393688.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406759.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.3112A>G",
"hgvs_p": "p.Thr1038Ala",
"transcript": "NM_001406760.1",
"protein_id": "NP_001393689.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406760.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.3112A>G",
"hgvs_p": "p.Thr1038Ala",
"transcript": "NM_020630.7",
"protein_id": "NP_065681.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1072,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020630.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2983A>G",
"hgvs_p": "p.Thr995Ala",
"transcript": "NM_001406761.1",
"protein_id": "NP_001393690.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406761.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.2983A>G",
"hgvs_p": "p.Thr995Ala",
"transcript": "NM_001406762.1",
"protein_id": "NP_001393691.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406762.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.2977A>G",
"hgvs_p": "p.Thr993Ala",
"transcript": "NM_001406763.1",
"protein_id": "NP_001393692.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2977,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406763.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.2983A>G",
"hgvs_p": "p.Thr995Ala",
"transcript": "NM_001406764.1",
"protein_id": "NP_001393693.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406764.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.2977A>G",
"hgvs_p": "p.Thr993Ala",
"transcript": "NM_001406765.1",
"protein_id": "NP_001393694.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2977,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406765.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.2824A>G",
"hgvs_p": "p.Thr942Ala",
"transcript": "NM_001406766.1",
"protein_id": "NP_001393695.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2824,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406766.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2824A>G",
"hgvs_p": "p.Thr942Ala",
"transcript": "NM_001406767.1",
"protein_id": "NP_001393696.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2824,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406767.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.2848A>G",
"hgvs_p": "p.Thr950Ala",
"transcript": "NM_001406768.1",
"protein_id": "NP_001393697.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 984,
"cds_start": 2848,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406768.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.2848A>G",
"hgvs_p": "p.Thr950Ala",
"transcript": "ENST00000713926.1",
"protein_id": "ENSP00000519223.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 984,
"cds_start": 2848,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713926.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2716A>G",
"hgvs_p": "p.Thr906Ala",
"transcript": "NM_001406769.1",
"protein_id": "NP_001393698.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 982,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406769.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.2824A>G",
"hgvs_p": "p.Thr942Ala",
"transcript": "NM_001406770.1",
"protein_id": "NP_001393699.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 976,
"cds_start": 2824,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406770.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RET",
"gene_hgnc_id": 9967,
"hgvs_c": "c.2674A>G",
"hgvs_p": "p.Thr892Ala",
"transcript": "NM_001406771.1",
"protein_id": "NP_001393700.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 968,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406771.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.2716A>G",
"hgvs_p": "p.Thr906Ala",
"transcript": "NM_001406772.1",
"protein_id": "NP_001393701.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 940,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406772.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.2716A>G",
"hgvs_p": "p.Thr906Ala",
"transcript": "ENST00000615310.5",
"protein_id": "ENSP00000480088.2",
"transcript_support_level": 5,
"aa_start": 906,
"aa_end": null,
"aa_length": 940,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
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"bayesdelnoaf_prediction": "Benign",
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{
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"criteria": [
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:11 B:4",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 2A|Ewing sarcoma of soft tissue|Multiple endocrine neoplasia, type 2|Renal hypodysplasia/aplasia 1|not specified|Hirschsprung disease, susceptibility to, 1|not provided|Pheochromocytoma|Multiple endocrine neoplasia|RET-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}