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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: 17-65852034-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=65852034&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 65852034,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001353129.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Val722Phe",
"transcript": "NM_001199165.4",
"protein_id": "NP_001186094.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 955,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000535342.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199165.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Val722Phe",
"transcript": "ENST00000535342.7",
"protein_id": "ENSP00000442784.2",
"transcript_support_level": 2,
"aa_start": 722,
"aa_end": null,
"aa_length": 955,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199165.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535342.7"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2038G>T",
"hgvs_p": "p.Val680Phe",
"transcript": "ENST00000537949.5",
"protein_id": "ENSP00000440775.1",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 913,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537949.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2263G>T",
"hgvs_p": "p.Val755Phe",
"transcript": "ENST00000859226.1",
"protein_id": "ENSP00000529285.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 988,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859226.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2167G>T",
"hgvs_p": "p.Val723Phe",
"transcript": "NM_001353129.2",
"protein_id": "NP_001340058.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 956,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353129.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2167G>T",
"hgvs_p": "p.Val723Phe",
"transcript": "ENST00000859224.1",
"protein_id": "ENSP00000529283.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 956,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859224.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2167G>T",
"hgvs_p": "p.Val723Phe",
"transcript": "ENST00000859225.1",
"protein_id": "ENSP00000529284.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 956,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859225.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2167G>T",
"hgvs_p": "p.Val723Phe",
"transcript": "ENST00000952586.1",
"protein_id": "ENSP00000622645.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 956,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952586.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Val722Phe",
"transcript": "NM_001353127.2",
"protein_id": "NP_001340056.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 955,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353127.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Val722Phe",
"transcript": "ENST00000392769.6",
"protein_id": "ENSP00000376522.2",
"transcript_support_level": 5,
"aa_start": 722,
"aa_end": null,
"aa_length": 955,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392769.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Val722Phe",
"transcript": "ENST00000932263.1",
"protein_id": "ENSP00000602322.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 955,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932263.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Val722Phe",
"transcript": "ENST00000952582.1",
"protein_id": "ENSP00000622641.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 955,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952582.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2161G>T",
"hgvs_p": "p.Val721Phe",
"transcript": "ENST00000952577.1",
"protein_id": "ENSP00000622636.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 954,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952577.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2161G>T",
"hgvs_p": "p.Val721Phe",
"transcript": "ENST00000952584.1",
"protein_id": "ENSP00000622643.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 954,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952584.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2167G>T",
"hgvs_p": "p.Val723Phe",
"transcript": "ENST00000952581.1",
"protein_id": "ENSP00000622640.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 935,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952581.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2167G>T",
"hgvs_p": "p.Val723Phe",
"transcript": "ENST00000952583.1",
"protein_id": "ENSP00000622642.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 935,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952583.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Val722Phe",
"transcript": "ENST00000952579.1",
"protein_id": "ENSP00000622638.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 934,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952579.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2167G>T",
"hgvs_p": "p.Val723Phe",
"transcript": "ENST00000859227.1",
"protein_id": "ENSP00000529286.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 922,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859227.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2038G>T",
"hgvs_p": "p.Val680Phe",
"transcript": "NM_001302891.3",
"protein_id": "NP_001289820.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 913,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302891.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2038G>T",
"hgvs_p": "p.Val680Phe",
"transcript": "NM_001353128.2",
"protein_id": "NP_001340057.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 913,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353128.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP112",
"gene_hgnc_id": 28514,
"hgvs_c": "c.2038G>T",
"hgvs_p": "p.Val680Phe",
"transcript": "ENST00000859223.1",
"protein_id": "ENSP00000529282.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 913,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859223.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
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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
}