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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: 7-128037283-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128037283&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SND1",
"hgnc_id": 30646,
"hgvs_c": "c.1780-37219C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014390.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 108742,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 910,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3448,
"cdna_start": null,
"cds_end": null,
"cds_length": 2733,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014390.4",
"gene_hgnc_id": 30646,
"gene_symbol": "SND1",
"hgvs_c": "c.1780-37219C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354725.8",
"protein_coding": true,
"protein_id": "NP_055205.2",
"strand": true,
"transcript": "NM_014390.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 910,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3448,
"cdna_start": null,
"cds_end": null,
"cds_length": 2733,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354725.8",
"gene_hgnc_id": 30646,
"gene_symbol": "SND1",
"hgvs_c": "c.1780-37219C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014390.4",
"protein_coding": true,
"protein_id": "ENSP00000346762.3",
"strand": true,
"transcript": "ENST00000354725.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 971,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3678,
"cdna_start": null,
"cds_end": null,
"cds_length": 2916,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903603.1",
"gene_hgnc_id": 30646,
"gene_symbol": "SND1",
"hgvs_c": "c.1938-37194C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573662.1",
"strand": true,
"transcript": "ENST00000903603.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 940,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": null,
"cds_end": null,
"cds_length": 2823,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915268.1",
"gene_hgnc_id": 30646,
"gene_symbol": "SND1",
"hgvs_c": "c.1870-37219C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585327.1",
"strand": true,
"transcript": "ENST00000915268.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 926,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": null,
"cds_end": null,
"cds_length": 2781,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903607.1",
"gene_hgnc_id": 30646,
"gene_symbol": "SND1",
"hgvs_c": "c.1828-37219C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573666.1",
"strand": true,
"transcript": "ENST00000903607.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 922,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": null,
"cds_end": null,
"cds_length": 2769,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944753.1",
"gene_hgnc_id": 30646,
"gene_symbol": "SND1",
"hgvs_c": "c.1816-37219C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614812.1",
"strand": true,
"transcript": "ENST00000944753.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 921,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": null,
"cds_end": null,
"cds_length": 2766,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944750.1",
"gene_hgnc_id": 30646,
"gene_symbol": "SND1",
"hgvs_c": "c.1813-37219C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614809.1",
"strand": true,
"transcript": "ENST00000944750.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 912,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3448,
"cdna_start": null,
"cds_end": null,
"cds_length": 2739,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944754.1",
"gene_hgnc_id": 30646,
"gene_symbol": "SND1",
"hgvs_c": "c.1786-37219C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614813.1",
"strand": true,
"transcript": "ENST00000944754.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
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"feature": "ENST00000915267.1",
"gene_hgnc_id": 30646,
"gene_symbol": "SND1",
"hgvs_c": "c.1774-37219C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585326.1",
"strand": true,
"transcript": "ENST00000915267.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000944748.1",
"gene_hgnc_id": 30646,
"gene_symbol": "SND1",
"hgvs_c": "c.1780-37225C>T",
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"mane_plus": null,
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},
{
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],
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"feature": "ENST00000944749.1",
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},
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},
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},
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"feature": "ENST00000903604.1",
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},
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},
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],
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"feature": "ENST00000903606.1",
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"protein_coding": true,
"protein_id": "ENSP00000573665.1",
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},
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],
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"feature": "ENST00000903602.1",
"gene_hgnc_id": 30646,
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},
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"consequences": [
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],
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"feature": "ENST00000903605.1",
"gene_hgnc_id": 30646,
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"protein_coding": true,
"protein_id": "ENSP00000573664.1",
"strand": true,
"transcript": "ENST00000903605.1",
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},
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"consequences": [
"intron_variant"
],
"exon_count": 23,
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"feature": "ENST00000903601.1",
"gene_hgnc_id": 30646,
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"hgvs_c": "c.1780-44077C>T",
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"intron_rank": 16,
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000903601.1",
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},
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