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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: 3-77039944-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=77039944&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "ROBO2",
"hgnc_id": 10250,
"hgvs_c": "c.-842C>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000461745.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 78950,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "3",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8946,
"cdna_start": null,
"cds_end": null,
"cds_length": 4137,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000461745.5",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
"hgvs_c": "c.-842C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417164.1",
"strand": true,
"transcript": "ENST00000461745.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1534,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8922,
"cdna_start": null,
"cds_end": null,
"cds_length": 4605,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394212.1",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
"hgvs_c": "c.131-58070C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381141.1",
"strand": true,
"transcript": "NM_001394212.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8804,
"cdna_start": null,
"cds_end": null,
"cds_length": 4596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378191.1",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
"hgvs_c": "c.110-58070C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365120.1",
"strand": true,
"transcript": "NM_001378191.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": null,
"cds_end": null,
"cds_length": 4596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696630.1",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
"hgvs_c": "c.110-58070C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512767.1",
"strand": true,
"transcript": "ENST00000696630.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1496,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8808,
"cdna_start": null,
"cds_end": null,
"cds_length": 4491,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378192.1",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
"hgvs_c": "c.131-58070C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365121.1",
"strand": true,
"transcript": "NM_001378192.1",
"transcript_support_level": null
},
{
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"aa_length": 1489,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8678,
"cdna_start": null,
"cds_end": null,
"cds_length": 4470,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378190.1",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
"hgvs_c": "c.110-58070C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365119.1",
"strand": true,
"transcript": "NM_001378190.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8661,
"cdna_start": null,
"cds_end": null,
"cds_length": 4344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394213.1",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
"hgvs_c": "c.131-58070C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381142.1",
"strand": true,
"transcript": "NM_001394213.1",
"transcript_support_level": null
},
{
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"aa_length": 1442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8643,
"cdna_start": null,
"cds_end": null,
"cds_length": 4329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378194.1",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
"hgvs_c": "c.131-58070C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001365123.1",
"strand": true,
"transcript": "NM_001378194.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001395657.1",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001382586.1",
"strand": true,
"transcript": "NM_001395657.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001378195.1",
"gene_hgnc_id": 10250,
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},
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],
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"feature": "ENST00000696629.1",
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},
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},
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"feature": "NM_001378198.1",
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},
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"feature": "NM_001378199.1",
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},
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],
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"feature": "ENST00000475334.2",
"gene_hgnc_id": 10250,
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"transcript": "ENST00000475334.2",
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},
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"feature": "NM_001394214.1",
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},
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"feature": "NM_001378201.1",
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},
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"consequences": [
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],
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"feature": "NM_001128929.3",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
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"protein_coding": true,
"protein_id": "NP_001122401.1",
"strand": true,
"transcript": "NM_001128929.3",
"transcript_support_level": null
},
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"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000487694.7",
"gene_hgnc_id": 10250,
"gene_symbol": "ROBO2",
"hgvs_c": "c.110-58070C>G",
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"protein_coding": true,
"protein_id": "ENSP00000417335.2",
"strand": true,
"transcript": "ENST00000487694.7",
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},
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