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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: 19-13298593-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13298593&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13298593,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_023035.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3040G>A",
"hgvs_p": "p.Glu1014Lys",
"transcript": "NM_001127222.2",
"protein_id": "NP_001120694.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 2506,
"cds_start": 3040,
"cds_end": null,
"cds_length": 7521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360228.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127222.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3040G>A",
"hgvs_p": "p.Glu1014Lys",
"transcript": "ENST00000360228.11",
"protein_id": "ENSP00000353362.5",
"transcript_support_level": 1,
"aa_start": 1014,
"aa_end": null,
"aa_length": 2506,
"cds_start": 3040,
"cds_end": null,
"cds_length": 7521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127222.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360228.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3043G>A",
"hgvs_p": "p.Glu1015Lys",
"transcript": "NM_001127221.2",
"protein_id": "NP_001120693.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2261,
"cds_start": 3043,
"cds_end": null,
"cds_length": 6786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000638009.2",
"biotype": "protein_coding",
"feature": "NM_001127221.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3043G>A",
"hgvs_p": "p.Glu1015Lys",
"transcript": "ENST00000638009.2",
"protein_id": "ENSP00000489913.1",
"transcript_support_level": 1,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2261,
"cds_start": 3043,
"cds_end": null,
"cds_length": 6786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001127221.2",
"biotype": "protein_coding",
"feature": "ENST00000638009.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Glu1018Lys",
"transcript": "ENST00000638029.1",
"protein_id": "ENSP00000489829.1",
"transcript_support_level": 5,
"aa_start": 1018,
"aa_end": null,
"aa_length": 2512,
"cds_start": 3052,
"cds_end": null,
"cds_length": 7539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638029.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3046G>A",
"hgvs_p": "p.Glu1016Lys",
"transcript": "ENST00000573710.7",
"protein_id": "ENSP00000460092.3",
"transcript_support_level": 5,
"aa_start": 1016,
"aa_end": null,
"aa_length": 2508,
"cds_start": 3046,
"cds_end": null,
"cds_length": 7527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573710.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3043G>A",
"hgvs_p": "p.Glu1015Lys",
"transcript": "ENST00000635727.1",
"protein_id": "ENSP00000490001.1",
"transcript_support_level": 5,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2507,
"cds_start": 3043,
"cds_end": null,
"cds_length": 7524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635727.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3043G>A",
"hgvs_p": "p.Glu1015Lys",
"transcript": "ENST00000637769.1",
"protein_id": "ENSP00000489778.1",
"transcript_support_level": 1,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2507,
"cds_start": 3043,
"cds_end": null,
"cds_length": 7524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637769.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3043G>A",
"hgvs_p": "p.Glu1015Lys",
"transcript": "ENST00000636012.1",
"protein_id": "ENSP00000490223.1",
"transcript_support_level": 5,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2495,
"cds_start": 3043,
"cds_end": null,
"cds_length": 7488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636012.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3040G>A",
"hgvs_p": "p.Glu1014Lys",
"transcript": "ENST00000587525.6",
"protein_id": "ENSP00000467729.2",
"transcript_support_level": 1,
"aa_start": 1014,
"aa_end": null,
"aa_length": 2494,
"cds_start": 3040,
"cds_end": null,
"cds_length": 7485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587525.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.2902G>A",
"hgvs_p": "p.Glu968Lys",
"transcript": "ENST00000637736.1",
"protein_id": "ENSP00000489861.1",
"transcript_support_level": 5,
"aa_start": 968,
"aa_end": null,
"aa_length": 2460,
"cds_start": 2902,
"cds_end": null,
"cds_length": 7383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637736.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3043G>A",
"hgvs_p": "p.Glu1015Lys",
"transcript": "ENST00000636389.1",
"protein_id": "ENSP00000489992.1",
"transcript_support_level": 5,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2302,
"cds_start": 3043,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636389.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Glu1018Lys",
"transcript": "ENST00000637432.1",
"protein_id": "ENSP00000490617.1",
"transcript_support_level": 5,
"aa_start": 1018,
"aa_end": null,
"aa_length": 2266,
"cds_start": 3052,
"cds_end": null,
"cds_length": 6801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637432.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3043G>A",
"hgvs_p": "p.Glu1015Lys",
"transcript": "ENST00000636549.1",
"protein_id": "ENSP00000490578.1",
"transcript_support_level": 5,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2263,
"cds_start": 3043,
"cds_end": null,
"cds_length": 6792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636549.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3046G>A",
"hgvs_p": "p.Glu1016Lys",
"transcript": "ENST00000637927.1",
"protein_id": "ENSP00000489715.1",
"transcript_support_level": 5,
"aa_start": 1016,
"aa_end": null,
"aa_length": 2262,
"cds_start": 3046,
"cds_end": null,
"cds_length": 6789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637927.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3043G>A",
"hgvs_p": "p.Glu1015Lys",
"transcript": "ENST00000635895.1",
"protein_id": "ENSP00000490323.1",
"transcript_support_level": 5,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2261,
"cds_start": 3043,
"cds_end": null,
"cds_length": 6786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635895.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3043G>A",
"hgvs_p": "p.Glu1015Lys",
"transcript": "ENST00000637276.1",
"protein_id": "ENSP00000489777.1",
"transcript_support_level": 5,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2249,
"cds_start": 3043,
"cds_end": null,
"cds_length": 6750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637276.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.3043G>A",
"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": 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": "ENST00000636768.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.3040G>A",
"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": 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": "ENST00000713789.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Glu1018Lys",
"transcript": "NM_023035.3",
"protein_id": "NP_075461.2",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 2512,
"cds_start": 3052,
"cds_end": null,
"cds_length": 7539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023035.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3040G>A",
"hgvs_p": "p.Glu1014Lys",
"transcript": "ENST00000637819.2",
"protein_id": "ENSP00000490686.2",
"transcript_support_level": 5,
"aa_start": 1014,
"aa_end": null,
"aa_length": 2508,
"cds_start": 3040,
"cds_end": null,
"cds_length": 7527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637819.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.3040G>A",
"hgvs_p": "p.Glu1014Lys",
"transcript": "ENST00000585802.7",
"protein_id": "ENSP00000465598.3",
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"computational_score_selected": 0.011419713497161865,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.488,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
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"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_023035.3",
"gene_symbol": "CACNA1A",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": " 42,CACNA1A-related disorder,Developmental and epileptic encephalopathy,Episodic ataxia type 2,Inborn genetic diseases,Intellectual disability,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:4",
"phenotype_combined": "not specified|Inborn genetic diseases|not provided|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42|Intellectual disability|CACNA1A-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}