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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: 6-127328205-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=127328205&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": "ECHDC1",
"hgnc_id": 21489,
"hgvs_c": "c.239-1061G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001139510.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105377994",
"hgnc_id": null,
"hgvs_c": "n.8292+2929C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "XR_001744333.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 81956,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "6",
"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": 301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001002030.2",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.221-1061G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000454859.8",
"protein_coding": true,
"protein_id": "NP_001002030.1",
"strand": false,
"transcript": "NM_001002030.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000454859.8",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.221-1061G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001002030.2",
"protein_coding": true,
"protein_id": "ENSP00000401751.3",
"strand": false,
"transcript": "ENST00000454859.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 70,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": null,
"cds_end": null,
"cds_length": 213,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528402.5",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.-5-1061G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436109.1",
"strand": false,
"transcript": "ENST00000528402.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 341,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1026,
"cdna_start": null,
"cds_end": null,
"cds_length": 1026,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436638.6",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.221-1061G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399233.2",
"strand": false,
"transcript": "ENST00000436638.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": null,
"cds_end": null,
"cds_length": 924,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001139510.2",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.239-1061G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001132982.1",
"strand": false,
"transcript": "NM_001139510.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": null,
"cds_end": null,
"cds_length": 924,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531967.5",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.239-1061G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436585.1",
"strand": false,
"transcript": "ENST00000531967.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1009,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000430841.6",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.221-1061G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402492.2",
"strand": false,
"transcript": "ENST00000430841.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000474289.6",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.221-1061G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434908.1",
"strand": false,
"transcript": "ENST00000474289.6",
"transcript_support_level": 5
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894268.1",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.221-1061G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564327.1",
"strand": false,
"transcript": "ENST00000894268.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000894269.1",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564328.1",
"strand": false,
"transcript": "ENST00000894269.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000928919.1",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.221-1061G>A",
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"protein_coding": true,
"protein_id": "ENSP00000598978.1",
"strand": false,
"transcript": "ENST00000928919.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000928920.1",
"gene_hgnc_id": 21489,
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"mane_plus": null,
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"strand": false,
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},
{
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],
"exon_count": 8,
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"feature": "ENST00000928921.1",
"gene_hgnc_id": 21489,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000598980.1",
"strand": false,
"transcript": "ENST00000928921.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000955814.1",
"gene_hgnc_id": 21489,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000955814.1",
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},
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000955815.1",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.221-1061G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625874.1",
"strand": false,
"transcript": "ENST00000955815.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "NM_001105544.2",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.-5-1061G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001099014.1",
"strand": false,
"transcript": "NM_001105544.2",
"transcript_support_level": null
},
{
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],
"exon_count": 5,
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"feature": "ENST00000454591.6",
"gene_hgnc_id": 21489,
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"protein_id": "ENSP00000404866.2",
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},
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],
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"feature": "ENST00000525745.5",
"gene_hgnc_id": 21489,
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"protein_id": "ENSP00000435068.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000534442.5",
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"protein_coding": true,
"protein_id": "ENSP00000435502.1",
"strand": false,
"transcript": "ENST00000534442.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_length": 438,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "NM_018479.4",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.221-1061G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060949.2",
"strand": false,
"transcript": "NM_018479.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 438,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000368289.6",
"gene_hgnc_id": 21489,
"gene_symbol": "ECHDC1",
"hgvs_c": "c.221-1061G>A",
"hgvs_p": null,
"intron_rank": 3,
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