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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: 2-127422645-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127422645&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PROC",
"hgnc_id": 9451,
"hgvs_c": "c.322-272A>G",
"hgvs_p": null,
"inheritance_mode": "SD,AD,AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001375607.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 110873,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": null,
"cds_end": null,
"cds_length": 1386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000312.4",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234071.8",
"protein_coding": true,
"protein_id": "NP_000303.1",
"strand": true,
"transcript": "NM_000312.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": null,
"cds_end": null,
"cds_length": 1386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000234071.8",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000312.4",
"protein_coding": true,
"protein_id": "ENSP00000234071.4",
"strand": true,
"transcript": "ENST00000234071.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375607.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.322-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362536.1",
"strand": true,
"transcript": "NM_001375607.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 522,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": null,
"cds_end": null,
"cds_length": 1569,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375602.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.421-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362531.1",
"strand": true,
"transcript": "NM_001375602.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 519,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": null,
"cds_end": null,
"cds_length": 1560,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883860.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.310-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553919.1",
"strand": true,
"transcript": "ENST00000883860.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 519,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": null,
"cds_end": null,
"cds_length": 1560,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883897.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.310-272A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553956.1",
"strand": true,
"transcript": "ENST00000883897.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 517,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": null,
"cds_end": null,
"cds_length": 1554,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375606.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.301-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362535.1",
"strand": true,
"transcript": "NM_001375606.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 516,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": null,
"cds_end": null,
"cds_length": 1551,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375603.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.301-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362532.1",
"strand": true,
"transcript": "NM_001375603.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 512,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": null,
"cds_end": null,
"cds_length": 1539,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883902.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.289-272A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553961.1",
"strand": true,
"transcript": "ENST00000883902.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 495,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": null,
"cds_end": null,
"cds_length": 1488,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375605.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362534.1",
"strand": true,
"transcript": "NM_001375605.1",
"transcript_support_level": null
},
{
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"aa_length": 495,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 1586,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409048.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386679.1",
"strand": true,
"transcript": "ENST00000409048.1",
"transcript_support_level": 5
},
{
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"aa_length": 495,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000883843.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553902.1",
"strand": true,
"transcript": "ENST00000883843.1",
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},
{
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"cdna_end": null,
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"consequences": [
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],
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"feature": "ENST00000883844.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553903.1",
"strand": true,
"transcript": "ENST00000883844.1",
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},
{
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"aa_ref": 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": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883854.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553913.1",
"strand": true,
"transcript": "ENST00000883854.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000883858.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553917.1",
"strand": true,
"transcript": "ENST00000883858.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_length": 1488,
"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883861.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553920.1",
"strand": true,
"transcript": "ENST00000883861.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": null,
"cds_end": null,
"cds_length": 1488,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883880.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553939.1",
"strand": true,
"transcript": "ENST00000883880.1",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000883881.1",
"gene_hgnc_id": 9451,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553940.1",
"strand": true,
"transcript": "ENST00000883881.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000883888.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553947.1",
"strand": true,
"transcript": "ENST00000883888.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883893.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553952.1",
"strand": true,
"transcript": "ENST00000883893.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": null,
"cds_end": null,
"cds_length": 1488,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883894.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.238-272A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553953.1",
"strand": true,
"transcript": "ENST00000883894.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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