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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: 19-4500193-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4500193&ref=A&alt=G&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": "HDGFL2",
"hgnc_id": 14680,
"hgvs_c": "c.1861+489A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001348169.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 121649,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.98,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9800000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 671,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": null,
"cds_end": null,
"cds_length": 2016,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001001520.3",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1789+489A>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000616600.5",
"protein_coding": true,
"protein_id": "NP_001001520.1",
"strand": true,
"transcript": "NM_001001520.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 671,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": null,
"cds_end": null,
"cds_length": 2016,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000616600.5",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1789+489A>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001001520.3",
"protein_coding": true,
"protein_id": "ENSP00000483345.1",
"strand": true,
"transcript": "ENST00000616600.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 670,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": null,
"cds_end": null,
"cds_length": 2013,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621835.4",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1789+489A>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483702.1",
"strand": true,
"transcript": "ENST00000621835.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 704,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": null,
"cds_end": null,
"cds_length": 2115,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901364.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1888+489A>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571423.1",
"strand": true,
"transcript": "ENST00000901364.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901363.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1888+489A>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571422.1",
"strand": true,
"transcript": "ENST00000901363.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940523.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1885+489A>G",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610582.1",
"strand": true,
"transcript": "ENST00000940523.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 695,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": null,
"cds_end": null,
"cds_length": 2088,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348169.2",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1861+489A>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335098.1",
"strand": true,
"transcript": "NM_001348169.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 688,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": null,
"cds_end": null,
"cds_length": 2067,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940524.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1843+489A>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610583.1",
"strand": true,
"transcript": "ENST00000940524.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 687,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": null,
"cds_end": null,
"cds_length": 2064,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966517.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1840+489A>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636576.1",
"strand": true,
"transcript": "ENST00000966517.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 678,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": null,
"cds_end": null,
"cds_length": 2037,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940525.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1810+489A>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610584.1",
"strand": true,
"transcript": "ENST00000940525.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": null,
"cds_end": null,
"cds_length": 2034,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901366.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1807+489A>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571425.1",
"strand": true,
"transcript": "ENST00000901366.1",
"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,
"cds_end": null,
"cds_length": 2013,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032631.4",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1789+489A>G",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116020.1",
"strand": true,
"transcript": "NM_032631.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2013,
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000901361.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1786+489A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000571420.1",
"strand": true,
"transcript": "ENST00000901361.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": null,
"cds_end": null,
"cds_length": 2010,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901362.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1786+489A>G",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571421.1",
"strand": true,
"transcript": "ENST00000901362.1",
"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,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000966518.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1783+489A>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636577.1",
"strand": true,
"transcript": "ENST00000966518.1",
"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": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940526.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1762+489A>G",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610585.1",
"strand": true,
"transcript": "ENST00000940526.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": null,
"cds_end": null,
"cds_length": 1893,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901367.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1669+489A>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000571426.1",
"strand": true,
"transcript": "ENST00000901367.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000940522.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1588+489A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000610581.1",
"strand": true,
"transcript": "ENST00000940522.1",
"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": 14,
"exon_rank": null,
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"feature": "ENST00000901365.1",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.1429+489A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000571424.1",
"strand": true,
"transcript": "ENST00000901365.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 525,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000587016.5",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.432+589A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468175.1",
"strand": true,
"transcript": "ENST00000587016.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_length": 153,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": null,
"cds_end": null,
"cds_length": 462,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592417.2",
"gene_hgnc_id": 14680,
"gene_symbol": "HDGFL2",
"hgvs_c": "c.331+489A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467513.2",
"strand": true,
"transcript": "ENST00000592417.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
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