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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: 22-50569342-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50569342&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50569342,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004377.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "NM_152246.3",
"protein_id": "NP_689452.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312108.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152246.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "ENST00000312108.12",
"protein_id": "ENSP00000312189.8",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152246.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312108.12"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "ENST00000395650.6",
"protein_id": "ENSP00000379011.2",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395650.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "ENST00000405237.7",
"protein_id": "ENSP00000385486.3",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405237.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB-CPT1B",
"gene_hgnc_id": 41998,
"hgvs_c": "n.*2540G>C",
"hgvs_p": null,
"transcript": "ENST00000453634.5",
"protein_id": "ENSP00000457031.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453634.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB-CPT1B",
"gene_hgnc_id": 41998,
"hgvs_c": "n.*2540G>C",
"hgvs_p": null,
"transcript": "ENST00000453634.5",
"protein_id": "ENSP00000457031.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453634.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2351G>C",
"hgvs_p": "p.Ser784Thr",
"transcript": "ENST00000948034.1",
"protein_id": "ENSP00000618093.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 784,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948034.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2351G>C",
"hgvs_p": "p.Ser784Thr",
"transcript": "ENST00000948060.1",
"protein_id": "ENSP00000618119.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 784,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948060.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2351G>C",
"hgvs_p": "p.Ser784Thr",
"transcript": "ENST00000948068.1",
"protein_id": "ENSP00000618127.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 784,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948068.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2351G>C",
"hgvs_p": "p.Ser784Thr",
"transcript": "ENST00000948073.1",
"protein_id": "ENSP00000618132.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 784,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948073.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2336G>C",
"hgvs_p": "p.Ser779Thr",
"transcript": "ENST00000867466.1",
"protein_id": "ENSP00000537525.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 779,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867466.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2336G>C",
"hgvs_p": "p.Ser779Thr",
"transcript": "ENST00000948038.1",
"protein_id": "ENSP00000618097.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 779,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948038.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2336G>C",
"hgvs_p": "p.Ser779Thr",
"transcript": "ENST00000948041.1",
"protein_id": "ENSP00000618100.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 779,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948041.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2336G>C",
"hgvs_p": "p.Ser779Thr",
"transcript": "ENST00000948046.1",
"protein_id": "ENSP00000618105.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 779,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948046.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2336G>C",
"hgvs_p": "p.Ser779Thr",
"transcript": "ENST00000948049.1",
"protein_id": "ENSP00000618108.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 779,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948049.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "NM_001145135.2",
"protein_id": "NP_001138607.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145135.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "NM_001145137.2",
"protein_id": "NP_001138609.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145137.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "NM_004377.4",
"protein_id": "NP_004368.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004377.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "NM_152245.3",
"protein_id": "NP_689451.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152245.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "ENST00000867451.1",
"protein_id": "ENSP00000537510.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867451.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "ENST00000867452.1",
"protein_id": "ENSP00000537511.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867452.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2315G>C",
"hgvs_p": "p.Ser772Thr",
"transcript": "ENST00000867453.1",
"protein_id": "ENSP00000537512.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
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{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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{
"score": 0,
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"verdict": "Uncertain_significance",
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"effects": [
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},
{
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],
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],
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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
}