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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: 1-91712382-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=91712382&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TGFBR3",
"hgnc_id": 11774,
"hgvs_c": "c.2027T>C",
"hgvs_p": "p.Phe676Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_003243.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.356,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Connective tissue disorder",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5871813893318176,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 851,
"aa_ref": "F",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6339,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_003243.5",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2027T>C",
"hgvs_p": "p.Phe676Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000212355.9",
"protein_coding": true,
"protein_id": "NP_003234.2",
"strand": false,
"transcript": "NM_003243.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 851,
"aa_ref": "F",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6339,
"cdna_start": 2414,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000212355.9",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2027T>C",
"hgvs_p": "p.Phe676Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003243.5",
"protein_coding": true,
"protein_id": "ENSP00000212355.4",
"strand": false,
"transcript": "ENST00000212355.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 851,
"aa_ref": "F",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3927,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000525962.5",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2027T>C",
"hgvs_p": "p.Phe676Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436127.1",
"strand": false,
"transcript": "ENST00000525962.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "F",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4550,
"cdna_start": 2708,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000370399.6",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2024T>C",
"hgvs_p": "p.Phe675Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359426.2",
"strand": false,
"transcript": "ENST00000370399.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "F",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000465892.6",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2024T>C",
"hgvs_p": "p.Phe675Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432638.1",
"strand": false,
"transcript": "ENST00000465892.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3913,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000532540.5",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "n.*1974T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434994.1",
"strand": false,
"transcript": "ENST00000532540.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3913,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000532540.5",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "n.*1974T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434994.1",
"strand": false,
"transcript": "ENST00000532540.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6455,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533089.5",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "n.*1831-86T>C",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433477.1",
"strand": false,
"transcript": "ENST00000533089.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 851,
"aa_ref": "F",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": 2347,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000868428.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2027T>C",
"hgvs_p": "p.Phe676Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538487.1",
"strand": false,
"transcript": "ENST00000868428.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "F",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6336,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001195683.2",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2024T>C",
"hgvs_p": "p.Phe675Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182612.1",
"strand": false,
"transcript": "NM_001195683.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "F",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6300,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001195684.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2024T>C",
"hgvs_p": "p.Phe675Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182613.1",
"strand": false,
"transcript": "NM_001195684.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "F",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000868418.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2024T>C",
"hgvs_p": "p.Phe675Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538477.1",
"strand": false,
"transcript": "ENST00000868418.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 850,
"aa_ref": "F",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 2295,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000868431.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2024T>C",
"hgvs_p": "p.Phe675Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538490.1",
"strand": false,
"transcript": "ENST00000868431.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 849,
"aa_ref": "F",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 2550,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000868420.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2027T>C",
"hgvs_p": "p.Phe676Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538479.1",
"strand": false,
"transcript": "ENST00000868420.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 849,
"aa_ref": "F",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4242,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2550,
"cds_start": 2021,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000868425.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2021T>C",
"hgvs_p": "p.Phe674Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538484.1",
"strand": false,
"transcript": "ENST00000868425.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 837,
"aa_ref": "F",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 2590,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000868417.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2027T>C",
"hgvs_p": "p.Phe676Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538476.1",
"strand": false,
"transcript": "ENST00000868417.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 837,
"aa_ref": "F",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4057,
"cdna_start": 2236,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000868424.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2027T>C",
"hgvs_p": "p.Phe676Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538483.1",
"strand": false,
"transcript": "ENST00000868424.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 836,
"aa_ref": "F",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 2511,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000868419.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2024T>C",
"hgvs_p": "p.Phe675Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538478.1",
"strand": false,
"transcript": "ENST00000868419.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 836,
"aa_ref": "F",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4236,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 2511,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000868422.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.2024T>C",
"hgvs_p": "p.Phe675Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538481.1",
"strand": false,
"transcript": "ENST00000868422.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "F",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 2147,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1889,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000868427.1",
"gene_hgnc_id": 11774,
"gene_symbol": "TGFBR3",
"hgvs_c": "c.1889T>C",
"hgvs_p": "p.Phe630Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538486.1",
"strand": false,
"transcript": "ENST00000868427.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "F",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1889,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000944334.1",
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