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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: 5-142644691-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=142644691&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FGF1",
"hgnc_id": 3665,
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000800.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SPRY4-AS1",
"hgnc_id": 53465,
"hgvs_c": "n.357-27101T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000443800.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3748,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000800.5",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337706.7",
"protein_coding": true,
"protein_id": "NP_000791.1",
"strand": false,
"transcript": "NM_000800.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3748,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000337706.7",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000800.5",
"protein_coding": true,
"protein_id": "ENSP00000338548.2",
"strand": false,
"transcript": "ENST00000337706.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000612258.4",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479024.1",
"strand": false,
"transcript": "ENST00000612258.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621536.4",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480791.1",
"strand": false,
"transcript": "ENST00000621536.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 992,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000494344.5",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "n.432-30530A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000494344.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001144934.2",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138406.1",
"strand": false,
"transcript": "NM_001144934.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001144935.2",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138407.1",
"strand": false,
"transcript": "NM_001144935.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001257205.1",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244134.1",
"strand": false,
"transcript": "NM_001257205.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 155,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001257207.2",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001244136.1",
"strand": false,
"transcript": "NM_001257207.2",
"transcript_support_level": null
},
{
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"aa_length": 155,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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"feature": "NM_001257208.2",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001244137.1",
"strand": false,
"transcript": "NM_001257208.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3819,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 4,
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"feature": "NM_001257209.1",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001244138.1",
"strand": false,
"transcript": "NM_001257209.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "NM_001354951.2",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001341880.1",
"strand": false,
"transcript": "NM_001354951.2",
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},
{
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],
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"feature": "NM_001354952.2",
"gene_hgnc_id": 3665,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001341881.1",
"strand": false,
"transcript": "NM_001354952.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 6,
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"feature": "NM_001354953.2",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
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"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001341882.1",
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"transcript": "NM_001354953.2",
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},
{
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"consequences": [
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],
"exon_count": 5,
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"feature": "NM_001354954.2",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001341883.1",
"strand": false,
"transcript": "NM_001354954.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 5,
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"feature": "NM_001354955.2",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001341884.1",
"strand": false,
"transcript": "NM_001354955.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 5,
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"feature": "NM_001354956.2",
"gene_hgnc_id": 3665,
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"strand": false,
"transcript": "NM_001354956.2",
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},
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],
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"feature": "ENST00000378046.5",
"gene_hgnc_id": 3665,
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"mane_plus": null,
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"protein_id": "ENSP00000367285.1",
"strand": false,
"transcript": "ENST00000378046.5",
"transcript_support_level": 3
},
{
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"consequences": [
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],
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"feature": "ENST00000419524.6",
"gene_hgnc_id": 3665,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000396195.2",
"strand": false,
"transcript": "ENST00000419524.6",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441680.6",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404742.2",
"strand": false,
"transcript": "ENST00000441680.6",
"transcript_support_level": 4
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3818,
"cdna_start": null,
"cds_end": null,
"cds_length": 468,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000619447.4",
"gene_hgnc_id": 3665,
"gene_symbol": "FGF1",
"hgvs_c": "c.-34-30530A>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
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