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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: 17-77190888-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=77190888&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 77190888,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001039573.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "NM_001143998.2",
"protein_id": "NP_001137470.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": "ENST00000436233.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143998.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000436233.9",
"protein_id": "ENSP00000390392.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": "NM_001143998.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436233.9"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000443798.8",
"protein_id": "ENSP00000406030.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 719,
"cds_start": 149,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443798.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000585618.5",
"protein_id": "ENSP00000466581.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585618.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "NM_001039573.3",
"protein_id": "NP_001034662.3",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 719,
"cds_start": 149,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039573.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "NM_001204408.2",
"protein_id": "NP_001191337.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 719,
"cds_start": 149,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204408.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000392476.6",
"protein_id": "ENSP00000376268.2",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 719,
"cds_start": 149,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392476.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "NM_001143999.2",
"protein_id": "NP_001137471.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143999.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "NM_001204410.2",
"protein_id": "NP_001191339.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204410.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "NM_003003.4",
"protein_id": "NP_002994.4",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 5447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003003.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000430767.8",
"protein_id": "ENSP00000408169.3",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430767.8"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000875146.1",
"protein_id": "ENSP00000545205.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875146.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000875147.1",
"protein_id": "ENSP00000545206.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875147.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000875150.1",
"protein_id": "ENSP00000545209.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 5547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875150.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000875151.1",
"protein_id": "ENSP00000545210.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875151.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000875152.1",
"protein_id": "ENSP00000545211.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875152.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000875154.1",
"protein_id": "ENSP00000545213.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 5515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875154.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000875155.1",
"protein_id": "ENSP00000545214.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875155.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000875156.1",
"protein_id": "ENSP00000545215.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875156.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000955367.1",
"protein_id": "ENSP00000625426.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 715,
"cds_start": 149,
"cds_end": null,
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"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955367.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Gly50Glu",
"transcript": "ENST00000955366.1",
"protein_id": "ENSP00000625425.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 704,
"cds_start": 149,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955366.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Gly16Glu",
"transcript": "NM_001144001.2",
"protein_id": "NP_001137473.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 681,
"cds_start": 47,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 5334,
"mane_select": null,
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"bayesdelnoaf_score": -0.42,
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{
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}