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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: 4-17843348-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=17843348&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 17843348,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022346.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2971C>T",
"hgvs_p": "p.Pro991Ser",
"transcript": "NM_022346.5",
"protein_id": "NP_071741.2",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2971,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251496.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022346.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2971C>T",
"hgvs_p": "p.Pro991Ser",
"transcript": "ENST00000251496.7",
"protein_id": "ENSP00000251496.2",
"transcript_support_level": 1,
"aa_start": 991,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2971,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022346.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251496.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.*2540G>A",
"hgvs_p": null,
"transcript": "NM_001394446.1",
"protein_id": "NP_001381375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1871,
"cds_start": null,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000635767.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394446.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.*2540G>A",
"hgvs_p": null,
"transcript": "ENST00000635767.2",
"protein_id": "ENSP00000490600.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1871,
"cds_start": null,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394446.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635767.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.*2373G>A",
"hgvs_p": null,
"transcript": "ENST00000326877.8",
"protein_id": "ENSP00000317566.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326877.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "n.*2162C>T",
"hgvs_p": null,
"transcript": "ENST00000514176.5",
"protein_id": "ENSP00000423042.1",
"transcript_support_level": 1,
"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": "ENST00000514176.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "n.*2162C>T",
"hgvs_p": null,
"transcript": "ENST00000514176.5",
"protein_id": "ENSP00000423042.1",
"transcript_support_level": 1,
"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": "ENST00000514176.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Pro992Ser",
"transcript": "ENST00000884028.1",
"protein_id": "ENSP00000554087.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884028.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2911C>T",
"hgvs_p": "p.Pro971Ser",
"transcript": "ENST00000938383.1",
"protein_id": "ENSP00000608442.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 995,
"cds_start": 2911,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938383.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2908C>T",
"hgvs_p": "p.Pro970Ser",
"transcript": "ENST00000938382.1",
"protein_id": "ENSP00000608441.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 994,
"cds_start": 2908,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938382.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2905C>T",
"hgvs_p": "p.Pro969Ser",
"transcript": "ENST00000938379.1",
"protein_id": "ENSP00000608438.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 993,
"cds_start": 2905,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938379.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2890C>T",
"hgvs_p": "p.Pro964Ser",
"transcript": "ENST00000938378.1",
"protein_id": "ENSP00000608437.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 988,
"cds_start": 2890,
"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": "ENST00000938378.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2884C>T",
"hgvs_p": "p.Pro962Ser",
"transcript": "ENST00000884027.1",
"protein_id": "ENSP00000554086.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 986,
"cds_start": 2884,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884027.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2857C>T",
"hgvs_p": "p.Pro953Ser",
"transcript": "ENST00000938377.1",
"protein_id": "ENSP00000608436.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 977,
"cds_start": 2857,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938377.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2767C>T",
"hgvs_p": "p.Pro923Ser",
"transcript": "ENST00000884029.1",
"protein_id": "ENSP00000554088.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 947,
"cds_start": 2767,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884029.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2746C>T",
"hgvs_p": "p.Pro916Ser",
"transcript": "ENST00000938381.1",
"protein_id": "ENSP00000608440.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 940,
"cds_start": 2746,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938381.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2740C>T",
"hgvs_p": "p.Pro914Ser",
"transcript": "ENST00000938380.1",
"protein_id": "ENSP00000608439.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 938,
"cds_start": 2740,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938380.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2977C>T",
"hgvs_p": "p.Pro993Ser",
"transcript": "XM_017008543.3",
"protein_id": "XP_016864032.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2977,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008543.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2290C>T",
"hgvs_p": "p.Pro764Ser",
"transcript": "XM_047416072.1",
"protein_id": "XP_047272028.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 788,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416072.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPG",
"gene_hgnc_id": 24304,
"hgvs_c": "c.2284C>T",
"hgvs_p": "p.Pro762Ser",
"transcript": "XM_047416073.1",
"protein_id": "XP_047272029.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 786,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.*2373G>A",
"hgvs_p": null,
"transcript": "NM_001365660.1",
"protein_id": "NP_001352589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365660.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCORL",
"gene_hgnc_id": 30776,
"hgvs_c": "c.*2373G>A",
"hgvs_p": null,
"transcript": "ENST00000675143.1",
"protein_id": "ENSP00000502692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
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{
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"verdict": "Uncertain_significance",
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"effects": [
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{
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],
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"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}