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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: 17-47222414-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47222414&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MYL4",
"hgnc_id": 7585,
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_002476.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": " 18, familial,Atrial fibrillation",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": 597,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_002476.2",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393450.5",
"protein_coding": true,
"protein_id": "NP_002467.1",
"strand": true,
"transcript": "NM_002476.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": 597,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393450.5",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002476.2",
"protein_coding": true,
"protein_id": "ENSP00000377096.1",
"strand": true,
"transcript": "ENST00000393450.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 215,
"aa_ref": "L",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 851,
"cdna_start": 651,
"cds_end": null,
"cds_length": 648,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954741.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Leu192Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624800.1",
"strand": true,
"transcript": "ENST00000954741.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 215,
"aa_ref": "L",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": 688,
"cds_end": null,
"cds_length": 648,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954746.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Leu192Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624805.1",
"strand": true,
"transcript": "ENST00000954746.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 215,
"aa_ref": "L",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1028,
"cdna_start": 770,
"cds_end": null,
"cds_length": 648,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954750.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Leu192Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624809.1",
"strand": true,
"transcript": "ENST00000954750.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 215,
"aa_ref": "L",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 629,
"cds_end": null,
"cds_length": 648,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954759.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Leu192Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624818.1",
"strand": true,
"transcript": "ENST00000954759.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 942,
"cdna_start": 684,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001002841.2",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002841.1",
"strand": true,
"transcript": "NM_001002841.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": 650,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000354968.5",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347055.1",
"strand": true,
"transcript": "ENST00000354968.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 850,
"cdna_start": 613,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000572316.5",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461570.1",
"strand": true,
"transcript": "ENST00000572316.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 797,
"cdna_start": 597,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869091.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539150.1",
"strand": true,
"transcript": "ENST00000869091.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 983,
"cdna_start": 721,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000954742.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624801.1",
"strand": true,
"transcript": "ENST00000954742.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1155,
"cdna_start": 878,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954745.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624804.1",
"strand": true,
"transcript": "ENST00000954745.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1077,
"cdna_start": 597,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954751.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624810.1",
"strand": true,
"transcript": "ENST00000954751.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": 597,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954752.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624811.1",
"strand": true,
"transcript": "ENST00000954752.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 703,
"cdna_start": 597,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954754.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624813.1",
"strand": true,
"transcript": "ENST00000954754.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 936,
"cdna_start": 597,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954755.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624814.1",
"strand": true,
"transcript": "ENST00000954755.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1021,
"cdna_start": 594,
"cds_end": null,
"cds_length": 594,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954758.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Leu174Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624817.1",
"strand": true,
"transcript": "ENST00000954758.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 196,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1032,
"cdna_start": 775,
"cds_end": null,
"cds_length": 591,
"cds_start": 519,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954743.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Leu173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624802.1",
"strand": true,
"transcript": "ENST00000954743.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 196,
"aa_ref": "L",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": 631,
"cds_end": null,
"cds_length": 591,
"cds_start": 519,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000954747.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Leu173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624806.1",
"strand": true,
"transcript": "ENST00000954747.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 196,
"aa_ref": "L",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": 755,
"cds_end": null,
"cds_length": 591,
"cds_start": 519,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954748.1",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Leu173Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624807.1",
"strand": true,
"transcript": "ENST00000954748.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 195,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 650,
"cdna_start": 582,
"cds_end": null,
"cds_length": 590,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000536623.6",
"gene_hgnc_id": 7585,
"gene_symbol": "MYL4",
"hgvs_c": "c.522G>A",
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