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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: 19-13207858-CCTGCTGCTGCTGCTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13207858&ref=CCTGCTGCTGCTGCTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13207858,
"ref": "CCTGCTGCTGCTGCTG",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000637769.1",
"consequences": [
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6961_6975delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2321_Gln2325del",
"transcript": "NM_001127222.2",
"protein_id": "NP_001120694.1",
"transcript_support_level": null,
"aa_start": 2321,
"aa_end": null,
"aa_length": 2506,
"cds_start": 6961,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7230,
"cdna_end": null,
"cdna_length": 8647,
"mane_select": "ENST00000360228.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6961_6975delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2321_Gln2325del",
"transcript": "ENST00000360228.11",
"protein_id": "ENSP00000353362.5",
"transcript_support_level": 1,
"aa_start": 2321,
"aa_end": null,
"aa_length": 2506,
"cds_start": 6961,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7230,
"cdna_end": null,
"cdna_length": 8647,
"mane_select": "NM_001127222.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6979_6993delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2327_Gln2331del",
"transcript": "ENST00000638029.1",
"protein_id": "ENSP00000489829.1",
"transcript_support_level": 5,
"aa_start": 2327,
"aa_end": null,
"aa_length": 2512,
"cds_start": 6979,
"cds_end": null,
"cds_length": 7539,
"cdna_start": 7229,
"cdna_end": null,
"cdna_length": 7814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6967_6981delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2323_Gln2327del",
"transcript": "ENST00000573710.7",
"protein_id": "ENSP00000460092.3",
"transcript_support_level": 5,
"aa_start": 2323,
"aa_end": null,
"aa_length": 2508,
"cds_start": 6967,
"cds_end": null,
"cds_length": 7527,
"cdna_start": 7012,
"cdna_end": null,
"cdna_length": 7569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6964_6978delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2322_Gln2326del",
"transcript": "ENST00000635727.1",
"protein_id": "ENSP00000490001.1",
"transcript_support_level": 5,
"aa_start": 2322,
"aa_end": null,
"aa_length": 2507,
"cds_start": 6964,
"cds_end": null,
"cds_length": 7524,
"cdna_start": 6978,
"cdna_end": null,
"cdna_length": 7536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6964_6978delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2322_Gln2326del",
"transcript": "ENST00000637769.1",
"protein_id": "ENSP00000489778.1",
"transcript_support_level": 1,
"aa_start": 2322,
"aa_end": null,
"aa_length": 2507,
"cds_start": 6964,
"cds_end": null,
"cds_length": 7524,
"cdna_start": 7234,
"cdna_end": null,
"cdna_length": 8648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6928_6942delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2310_Gln2314del",
"transcript": "ENST00000636012.1",
"protein_id": "ENSP00000490223.1",
"transcript_support_level": 5,
"aa_start": 2310,
"aa_end": null,
"aa_length": 2495,
"cds_start": 6928,
"cds_end": null,
"cds_length": 7488,
"cdna_start": 6942,
"cdna_end": null,
"cdna_length": 7500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6925_6939delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2309_Gln2313del",
"transcript": "ENST00000587525.6",
"protein_id": "ENSP00000467729.2",
"transcript_support_level": 1,
"aa_start": 2309,
"aa_end": null,
"aa_length": 2494,
"cds_start": 6925,
"cds_end": null,
"cds_length": 7485,
"cdna_start": 7194,
"cdna_end": null,
"cdna_length": 8559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6823_6837delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2275_Gln2279del",
"transcript": "ENST00000637736.1",
"protein_id": "ENSP00000489861.1",
"transcript_support_level": 5,
"aa_start": 2275,
"aa_end": null,
"aa_length": 2460,
"cds_start": 6823,
"cds_end": null,
"cds_length": 7383,
"cdna_start": 7072,
"cdna_end": null,
"cdna_length": 8340,
"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": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*1222_*1236delCAGCAGCAGCAGCAG",
"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": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*2140_*2154delCAGCAGCAGCAGCAG",
"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": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.*47_*61delCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000636389.1",
"protein_id": "ENSP00000489992.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2302,
"cds_start": -4,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.*173_*187delCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000637432.1",
"protein_id": "ENSP00000490617.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2266,
"cds_start": -4,
"cds_end": null,
"cds_length": 6801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.*173_*187delCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000635895.1",
"protein_id": "ENSP00000490323.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2261,
"cds_start": -4,
"cds_end": null,
"cds_length": 6786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.*173_*187delCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000638009.2",
"protein_id": "ENSP00000489913.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2261,
"cds_start": -4,
"cds_end": null,
"cds_length": 6786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.*173_*187delCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000637276.1",
"protein_id": "ENSP00000489777.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2249,
"cds_start": -4,
"cds_end": null,
"cds_length": 6750,
"cdna_start": null,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*1222_*1236delCAGCAGCAGCAGCAG",
"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": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*2140_*2154delCAGCAGCAGCAGCAG",
"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": "QQQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6979_6993delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2327_Gln2331del",
"transcript": "NM_023035.3",
"protein_id": "NP_075461.2",
"transcript_support_level": null,
"aa_start": 2327,
"aa_end": null,
"aa_length": 2512,
"cds_start": 6979,
"cds_end": null,
"cds_length": 7539,
"cdna_start": 7248,
"cdna_end": null,
"cdna_length": 8665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6967_6981delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2323_Gln2327del",
"transcript": "ENST00000637819.2",
"protein_id": "ENSP00000490686.2",
"transcript_support_level": 5,
"aa_start": 2323,
"aa_end": null,
"aa_length": 2508,
"cds_start": 6967,
"cds_end": null,
"cds_length": 7527,
"cdna_start": 7236,
"cdna_end": null,
"cdna_length": 8653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQQQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.6931_6945delCAGCAGCAGCAGCAG",
"hgvs_p": "p.Gln2311_Gln2315del",
"transcript": "ENST00000585802.7",
"protein_id": "ENSP00000465598.3",
"transcript_support_level": 5,
"aa_start": 2311,
"aa_end": null,
"aa_length": 2496,
"cds_start": 6931,
"cds_end": null,
"cds_length": 7491,
"cdna_start": 7200,
"cdna_end": null,
"cdna_length": 7793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*2045_*2059delCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000573891.7",
"protein_id": "ENSP00000460276.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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{
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"BP6_Very_Strong",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000637769.1",
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"effects": [
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{
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"verdict": "Benign",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}