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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: 12-21864454-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21864454&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCC9",
"hgnc_id": 60,
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005691.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000257022",
"hgnc_id": null,
"hgvs_c": "n.332-5128A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000539874.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 55,
"alphamissense_prediction": null,
"alphamissense_score": 0.0647,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1O",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18339946866035461,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8668,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_020297.4",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261200.9",
"protein_coding": true,
"protein_id": "NP_064693.2",
"strand": false,
"transcript": "NM_020297.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8668,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000261200.9",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020297.4",
"protein_coding": true,
"protein_id": "ENSP00000261200.4",
"strand": false,
"transcript": "ENST00000261200.9",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8728,
"cdna_start": 2645,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001377273.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364202.1",
"strand": false,
"transcript": "NM_001377273.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8844,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_005691.4",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005682.2",
"strand": false,
"transcript": "NM_005691.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8844,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000261201.10",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261201.4",
"strand": false,
"transcript": "ENST00000261201.10",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7612,
"cdna_start": 3710,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000879186.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549245.1",
"strand": false,
"transcript": "ENST00000879186.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6803,
"cdna_start": 3017,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000879187.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549246.1",
"strand": false,
"transcript": "ENST00000879187.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6499,
"cdna_start": 2471,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000879188.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549247.1",
"strand": false,
"transcript": "ENST00000879188.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6352,
"cdna_start": 2450,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000879190.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549249.1",
"strand": false,
"transcript": "ENST00000879190.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6064,
"cdna_start": 2553,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000879191.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549250.1",
"strand": false,
"transcript": "ENST00000879191.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "F",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7163,
"cdna_start": 2474,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000944975.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615034.1",
"strand": false,
"transcript": "ENST00000944975.1",
"transcript_support_level": null
},
{
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"aa_length": 1548,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 2359,
"cds_end": null,
"cds_length": 4647,
"cds_start": 2222,
"consequences": [
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],
"exon_count": 39,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000944976.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615035.1",
"strand": false,
"transcript": "ENST00000944976.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6576,
"cdna_start": 2473,
"cds_end": null,
"cds_length": 4599,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000684084.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507859.1",
"strand": false,
"transcript": "ENST00000684084.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1480,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4815,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 4443,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000683676.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508167.1",
"strand": false,
"transcript": "ENST00000683676.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "F",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8255,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 3783,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001377274.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.1358T>C",
"hgvs_p": "p.Phe453Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364203.1",
"strand": false,
"transcript": "NM_001377274.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1235,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4687,
"cdna_start": 2642,
"cds_end": null,
"cds_length": 3708,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000682068.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507226.1",
"strand": false,
"transcript": "ENST00000682068.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1176,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1103,
"cds_end": null,
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"cds_start": 1103,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000544039.5",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.1103T>C",
"hgvs_p": "p.Phe368Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440521.1",
"strand": false,
"transcript": "ENST00000544039.5",
"transcript_support_level": 5
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8552,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_005253288.5",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005253345.1",
"strand": false,
"transcript": "XM_005253288.5",
"transcript_support_level": null
},
{
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"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2641,
"cds_end": null,
"cds_length": 4650,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011520545.4",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2222T>C",
"hgvs_p": "p.Phe741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518847.1",
"strand": false,
"transcript": "XM_011520545.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1536,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": null,
"cds_end": null,
"cds_length": 4611,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879185.1",
"gene_hgnc_id": 60,
"gene_symbol": "ABCC9",
"hgvs_c": "c.2199-1400T>C",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549244.1",
"strand": false,
"transcript": "ENST00000879185.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1536,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6450,
"cdna_start": null,
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