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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: 3-124667095-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124667095&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124667095,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000682506.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6615T>C",
"hgvs_p": "p.Val2205Val",
"transcript": "NM_001388419.1",
"protein_id": "NP_001375348.1",
"transcript_support_level": null,
"aa_start": 2205,
"aa_end": null,
"aa_length": 2986,
"cds_start": 6615,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 6987,
"cdna_end": null,
"cdna_length": 16188,
"mane_select": "ENST00000682506.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6615T>C",
"hgvs_p": "p.Val2205Val",
"transcript": "ENST00000682506.1",
"protein_id": "ENSP00000508359.1",
"transcript_support_level": null,
"aa_start": 2205,
"aa_end": null,
"aa_length": 2986,
"cds_start": 6615,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 6987,
"cdna_end": null,
"cdna_length": 16188,
"mane_select": "NM_001388419.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1521T>C",
"hgvs_p": "p.Val507Val",
"transcript": "ENST00000291478.9",
"protein_id": "ENSP00000291478.4",
"transcript_support_level": 1,
"aa_start": 507,
"aa_end": null,
"aa_length": 1289,
"cds_start": 1521,
"cds_end": null,
"cds_length": 3870,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 10888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6612T>C",
"hgvs_p": "p.Val2204Val",
"transcript": "NM_001024660.5",
"protein_id": "NP_001019831.2",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 2986,
"cds_start": 6612,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 6743,
"cdna_end": null,
"cdna_length": 15947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6612T>C",
"hgvs_p": "p.Val2204Val",
"transcript": "ENST00000360013.7",
"protein_id": "ENSP00000353109.3",
"transcript_support_level": 5,
"aa_start": 2204,
"aa_end": null,
"aa_length": 2986,
"cds_start": 6612,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 6739,
"cdna_end": null,
"cdna_length": 10806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6516T>C",
"hgvs_p": "p.Val2172Val",
"transcript": "ENST00000354186.8",
"protein_id": "ENSP00000346122.4",
"transcript_support_level": 5,
"aa_start": 2172,
"aa_end": null,
"aa_length": 2954,
"cds_start": 6516,
"cds_end": null,
"cds_length": 8865,
"cdna_start": 6518,
"cdna_end": null,
"cdna_length": 10586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6609T>C",
"hgvs_p": "p.Val2203Val",
"transcript": "NM_001322988.2",
"protein_id": "NP_001309917.1",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 2396,
"cds_start": 6609,
"cds_end": null,
"cds_length": 7191,
"cdna_start": 6740,
"cdna_end": null,
"cdna_length": 8131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.4689T>C",
"hgvs_p": "p.Val1563Val",
"transcript": "NM_001388412.1",
"protein_id": "NP_001375341.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1756,
"cds_start": 4689,
"cds_end": null,
"cds_length": 5271,
"cdna_start": 4865,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1521T>C",
"hgvs_p": "p.Val507Val",
"transcript": "NM_007064.5",
"protein_id": "NP_008995.2",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 1289,
"cds_start": 1521,
"cds_end": null,
"cds_length": 3870,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 10889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1521T>C",
"hgvs_p": "p.Val507Val",
"transcript": "NM_001322993.2",
"protein_id": "NP_001309922.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1521,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 10886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2697T>C",
"hgvs_p": "p.Val899Val",
"transcript": "ENST00000684360.1",
"protein_id": "ENSP00000506947.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2697,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 2697,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1548T>C",
"hgvs_p": "p.Val516Val",
"transcript": "NM_001322994.2",
"protein_id": "NP_001309923.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 709,
"cds_start": 1548,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 3103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1548T>C",
"hgvs_p": "p.Val516Val",
"transcript": "ENST00000682363.1",
"protein_id": "ENSP00000507954.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 709,
"cds_start": 1548,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1521T>C",
"hgvs_p": "p.Val507Val",
"transcript": "NM_001322995.2",
"protein_id": "NP_001309924.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 701,
"cds_start": 1521,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1521T>C",
"hgvs_p": "p.Val507Val",
"transcript": "NM_001322996.2",
"protein_id": "NP_001309925.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 700,
"cds_start": 1521,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Val506Val",
"transcript": "NM_001322997.2",
"protein_id": "NP_001309926.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 699,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1425T>C",
"hgvs_p": "p.Val475Val",
"transcript": "NM_001322998.2",
"protein_id": "NP_001309927.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 669,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1422T>C",
"hgvs_p": "p.Val474Val",
"transcript": "NM_001322999.2",
"protein_id": "NP_001309928.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 668,
"cds_start": 1422,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1425T>C",
"hgvs_p": "p.Val475Val",
"transcript": "NM_001323000.2",
"protein_id": "NP_001309929.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 668,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1422T>C",
"hgvs_p": "p.Val474Val",
"transcript": "NM_001323001.2",
"protein_id": "NP_001309930.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 667,
"cds_start": 1422,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6618T>C",
"hgvs_p": "p.Val2206Val",
"transcript": "XM_006713810.4",
"protein_id": "XP_006713873.1",
"transcript_support_level": null,
"aa_start": 2206,
"aa_end": null,
"aa_length": 2988,
"cds_start": 6618,
"cds_end": null,
"cds_length": 8967,
"cdna_start": 6990,
"cdna_end": null,
"cdna_length": 16194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6618T>C",
"hgvs_p": "p.Val2206Val",
"transcript": "XM_011513279.3",
"protein_id": "XP_011511581.1",
"transcript_support_level": null,
"aa_start": 2206,
"aa_end": null,
"aa_length": 2987,
"cds_start": 6618,
"cds_end": null,
"cds_length": 8964,
"cdna_start": 6990,
"cdna_end": null,
"cdna_length": 16191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
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"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.087,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000682506.1",
"gene_symbol": "KALRN",
"hgnc_id": 4814,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6615T>C",
"hgvs_p": "p.Val2205Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}