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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: 19-13209324-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13209324&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13209324,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000637769.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6514G>T",
"hgvs_p": "p.Asp2172Tyr",
"transcript": "NM_001127222.2",
"protein_id": "NP_001120694.1",
"transcript_support_level": null,
"aa_start": 2172,
"aa_end": null,
"aa_length": 2506,
"cds_start": 6514,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 6769,
"cdna_end": null,
"cdna_length": 8647,
"mane_select": "ENST00000360228.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6514G>T",
"hgvs_p": "p.Asp2172Tyr",
"transcript": "ENST00000360228.11",
"protein_id": "ENSP00000353362.5",
"transcript_support_level": 1,
"aa_start": 2172,
"aa_end": null,
"aa_length": 2506,
"cds_start": 6514,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 6769,
"cdna_end": null,
"cdna_length": 8647,
"mane_select": "NM_001127222.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6517G>T",
"hgvs_p": "p.Asp2173Tyr",
"transcript": "NM_001127221.2",
"protein_id": "NP_001120693.1",
"transcript_support_level": null,
"aa_start": 2173,
"aa_end": null,
"aa_length": 2261,
"cds_start": 6517,
"cds_end": null,
"cds_length": 6786,
"cdna_start": 6772,
"cdna_end": null,
"cdna_length": 8645,
"mane_select": null,
"mane_plus": "ENST00000638009.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6517G>T",
"hgvs_p": "p.Asp2173Tyr",
"transcript": "ENST00000638009.2",
"protein_id": "ENSP00000489913.1",
"transcript_support_level": 1,
"aa_start": 2173,
"aa_end": null,
"aa_length": 2261,
"cds_start": 6517,
"cds_end": null,
"cds_length": 6786,
"cdna_start": 6772,
"cdna_end": null,
"cdna_length": 8645,
"mane_select": null,
"mane_plus": "NM_001127221.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6532G>T",
"hgvs_p": "p.Asp2178Tyr",
"transcript": "ENST00000638029.1",
"protein_id": "ENSP00000489829.1",
"transcript_support_level": 5,
"aa_start": 2178,
"aa_end": null,
"aa_length": 2512,
"cds_start": 6532,
"cds_end": null,
"cds_length": 7539,
"cdna_start": 6768,
"cdna_end": null,
"cdna_length": 7814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6520G>T",
"hgvs_p": "p.Asp2174Tyr",
"transcript": "ENST00000573710.7",
"protein_id": "ENSP00000460092.3",
"transcript_support_level": 5,
"aa_start": 2174,
"aa_end": null,
"aa_length": 2508,
"cds_start": 6520,
"cds_end": null,
"cds_length": 7527,
"cdna_start": 6551,
"cdna_end": null,
"cdna_length": 7569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6517G>T",
"hgvs_p": "p.Asp2173Tyr",
"transcript": "ENST00000635727.1",
"protein_id": "ENSP00000490001.1",
"transcript_support_level": 5,
"aa_start": 2173,
"aa_end": null,
"aa_length": 2507,
"cds_start": 6517,
"cds_end": null,
"cds_length": 7524,
"cdna_start": 6517,
"cdna_end": null,
"cdna_length": 7536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6517G>T",
"hgvs_p": "p.Asp2173Tyr",
"transcript": "ENST00000637769.1",
"protein_id": "ENSP00000489778.1",
"transcript_support_level": 1,
"aa_start": 2173,
"aa_end": null,
"aa_length": 2507,
"cds_start": 6517,
"cds_end": null,
"cds_length": 7524,
"cdna_start": 6773,
"cdna_end": null,
"cdna_length": 8648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6481G>T",
"hgvs_p": "p.Asp2161Tyr",
"transcript": "ENST00000636012.1",
"protein_id": "ENSP00000490223.1",
"transcript_support_level": 5,
"aa_start": 2161,
"aa_end": null,
"aa_length": 2495,
"cds_start": 6481,
"cds_end": null,
"cds_length": 7488,
"cdna_start": 6481,
"cdna_end": null,
"cdna_length": 7500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6478G>T",
"hgvs_p": "p.Asp2160Tyr",
"transcript": "ENST00000587525.6",
"protein_id": "ENSP00000467729.2",
"transcript_support_level": 1,
"aa_start": 2160,
"aa_end": null,
"aa_length": 2494,
"cds_start": 6478,
"cds_end": null,
"cds_length": 7485,
"cdna_start": 6733,
"cdna_end": null,
"cdna_length": 8559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6376G>T",
"hgvs_p": "p.Asp2126Tyr",
"transcript": "ENST00000637736.1",
"protein_id": "ENSP00000489861.1",
"transcript_support_level": 5,
"aa_start": 2126,
"aa_end": null,
"aa_length": 2460,
"cds_start": 6376,
"cds_end": null,
"cds_length": 7383,
"cdna_start": 6611,
"cdna_end": null,
"cdna_length": 8340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6517G>T",
"hgvs_p": "p.Asp2173Tyr",
"transcript": "ENST00000636389.1",
"protein_id": "ENSP00000489992.1",
"transcript_support_level": 5,
"aa_start": 2173,
"aa_end": null,
"aa_length": 2302,
"cds_start": 6517,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 6565,
"cdna_end": null,
"cdna_length": 8137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6532G>T",
"hgvs_p": "p.Asp2178Tyr",
"transcript": "ENST00000637432.1",
"protein_id": "ENSP00000490617.1",
"transcript_support_level": 5,
"aa_start": 2178,
"aa_end": null,
"aa_length": 2266,
"cds_start": 6532,
"cds_end": null,
"cds_length": 6801,
"cdna_start": 6768,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6523G>T",
"hgvs_p": "p.Asp2175Tyr",
"transcript": "ENST00000636549.1",
"protein_id": "ENSP00000490578.1",
"transcript_support_level": 5,
"aa_start": 2175,
"aa_end": null,
"aa_length": 2263,
"cds_start": 6523,
"cds_end": null,
"cds_length": 6792,
"cdna_start": 6523,
"cdna_end": null,
"cdna_length": 6792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6520G>T",
"hgvs_p": "p.Asp2174Tyr",
"transcript": "ENST00000637927.1",
"protein_id": "ENSP00000489715.1",
"transcript_support_level": 5,
"aa_start": 2174,
"aa_end": null,
"aa_length": 2262,
"cds_start": 6520,
"cds_end": null,
"cds_length": 6789,
"cdna_start": 6551,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6517G>T",
"hgvs_p": "p.Asp2173Tyr",
"transcript": "ENST00000635895.1",
"protein_id": "ENSP00000490323.1",
"transcript_support_level": 5,
"aa_start": 2173,
"aa_end": null,
"aa_length": 2261,
"cds_start": 6517,
"cds_end": null,
"cds_length": 6786,
"cdna_start": 6788,
"cdna_end": null,
"cdna_length": 8657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6481G>T",
"hgvs_p": "p.Asp2161Tyr",
"transcript": "ENST00000637276.1",
"protein_id": "ENSP00000489777.1",
"transcript_support_level": 5,
"aa_start": 2161,
"aa_end": null,
"aa_length": 2249,
"cds_start": 6481,
"cds_end": null,
"cds_length": 6750,
"cdna_start": 6481,
"cdna_end": null,
"cdna_length": 7135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*780G>T",
"hgvs_p": null,
"transcript": "ENST00000636768.2",
"protein_id": "ENSP00000490190.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*1693G>T",
"hgvs_p": null,
"transcript": "ENST00000713789.1",
"protein_id": "ENSP00000519091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*780G>T",
"hgvs_p": null,
"transcript": "ENST00000636768.2",
"protein_id": "ENSP00000490190.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*1693G>T",
"hgvs_p": null,
"transcript": "ENST00000713789.1",
"protein_id": "ENSP00000519091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6532G>T",
"hgvs_p": "p.Asp2178Tyr",
"transcript": "NM_023035.3",
"protein_id": "NP_075461.2",
"transcript_support_level": null,
"aa_start": 2178,
"aa_end": null,
"aa_length": 2512,
"cds_start": 6532,
"cds_end": null,
"cds_length": 7539,
"cdna_start": 6787,
"cdna_end": null,
"cdna_length": 8665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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"BS2"
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"verdict": "Likely_benign",
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{
"score": 3,
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],
"verdict": "Uncertain_significance",
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"effects": [
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],
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}
],
"clinvar_disease": " 42,Developmental and epileptic encephalopathy,Episodic ataxia type 2,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42|not specified|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}