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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: 17-7311422-CCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7311422&ref=CCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7311422,
"ref": "CCT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001143760.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "NM_001970.5",
"protein_id": "NP_001961.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": "ENST00000336458.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001970.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000336458.13",
"protein_id": "ENSP00000336776.8",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": "NM_001970.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336458.13"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.434_435delCT",
"hgvs_p": "p.Pro145fs",
"transcript": "ENST00000336452.11",
"protein_id": "ENSP00000336702.7",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 184,
"cds_start": 434,
"cds_end": null,
"cds_length": 555,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336452.11"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000416016.2",
"protein_id": "ENSP00000396073.2",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416016.2"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000419711.6",
"protein_id": "ENSP00000390677.2",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 1271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419711.6"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000572815.5",
"protein_id": "ENSP00000461688.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 186,
"cds_start": 344,
"cds_end": null,
"cds_length": 561,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572815.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000894302.1",
"protein_id": "ENSP00000564361.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 186,
"cds_start": 344,
"cds_end": null,
"cds_length": 561,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894302.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000939950.1",
"protein_id": "ENSP00000610009.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 186,
"cds_start": 344,
"cds_end": null,
"cds_length": 561,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939950.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000939956.1",
"protein_id": "ENSP00000610015.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 186,
"cds_start": 344,
"cds_end": null,
"cds_length": 561,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939956.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000939963.1",
"protein_id": "ENSP00000610022.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 186,
"cds_start": 344,
"cds_end": null,
"cds_length": 561,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939963.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000939965.1",
"protein_id": "ENSP00000610024.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 186,
"cds_start": 344,
"cds_end": null,
"cds_length": 561,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939965.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.434_435delCT",
"hgvs_p": "p.Pro145fs",
"transcript": "NM_001143760.1",
"protein_id": "NP_001137232.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 184,
"cds_start": 434,
"cds_end": null,
"cds_length": 555,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143760.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "NM_001143761.1",
"protein_id": "NP_001137233.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143761.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "NM_001143762.2",
"protein_id": "NP_001137234.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143762.2"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "NM_001370420.1",
"protein_id": "NP_001357349.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370420.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "NM_001370421.1",
"protein_id": "NP_001357350.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370421.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000571955.5",
"protein_id": "ENSP00000458269.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571955.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000573542.5",
"protein_id": "ENSP00000459611.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573542.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000576930.5",
"protein_id": "ENSP00000459196.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576930.5"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000894295.1",
"protein_id": "ENSP00000564354.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894295.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000894296.1",
"protein_id": "ENSP00000564355.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894296.1"
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF5A",
"gene_hgnc_id": 3300,
"hgvs_c": "c.344_345delCT",
"hgvs_p": "p.Pro115fs",
"transcript": "ENST00000894297.1",
"protein_id": "ENSP00000564356.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 154,
"cds_start": 344,
"cds_end": null,
"cds_length": 465,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894297.1"
},
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{
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"PP5_Moderate"
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},
{
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}