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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: 17-50616335-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50616335&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50616335,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018896.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4972T>C",
"hgvs_p": "p.Ser1658Pro",
"transcript": "NM_018896.5",
"protein_id": "NP_061496.2",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 2377,
"cds_start": 4972,
"cds_end": null,
"cds_length": 7134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359106.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018896.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4972T>C",
"hgvs_p": "p.Ser1658Pro",
"transcript": "ENST00000359106.10",
"protein_id": "ENSP00000352011.5",
"transcript_support_level": 1,
"aa_start": 1658,
"aa_end": null,
"aa_length": 2377,
"cds_start": 4972,
"cds_end": null,
"cds_length": 7134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018896.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359106.10"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4939T>C",
"hgvs_p": "p.Ser1647Pro",
"transcript": "ENST00000507336.5",
"protein_id": "ENSP00000420918.1",
"transcript_support_level": 1,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2366,
"cds_start": 4939,
"cds_end": null,
"cds_length": 7101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507336.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4972T>C",
"hgvs_p": "p.Ser1658Pro",
"transcript": "ENST00000507510.6",
"protein_id": "ENSP00000423112.2",
"transcript_support_level": 1,
"aa_start": 1658,
"aa_end": null,
"aa_length": 2332,
"cds_start": 4972,
"cds_end": null,
"cds_length": 6999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507510.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4939T>C",
"hgvs_p": "p.Ser1647Pro",
"transcript": "ENST00000515765.5",
"protein_id": "ENSP00000426232.1",
"transcript_support_level": 1,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2321,
"cds_start": 4939,
"cds_end": null,
"cds_length": 6966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515765.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4918T>C",
"hgvs_p": "p.Ser1640Pro",
"transcript": "ENST00000515411.5",
"protein_id": "ENSP00000423155.1",
"transcript_support_level": 1,
"aa_start": 1640,
"aa_end": null,
"aa_length": 2314,
"cds_start": 4918,
"cds_end": null,
"cds_length": 6945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515411.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4903T>C",
"hgvs_p": "p.Ser1635Pro",
"transcript": "ENST00000502264.5",
"protein_id": "ENSP00000425522.1",
"transcript_support_level": 1,
"aa_start": 1635,
"aa_end": null,
"aa_length": 2306,
"cds_start": 4903,
"cds_end": null,
"cds_length": 6921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502264.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4870T>C",
"hgvs_p": "p.Ser1624Pro",
"transcript": "ENST00000510115.5",
"protein_id": "ENSP00000427173.1",
"transcript_support_level": 1,
"aa_start": 1624,
"aa_end": null,
"aa_length": 2298,
"cds_start": 4870,
"cds_end": null,
"cds_length": 6897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510115.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4993T>C",
"hgvs_p": "p.Ser1665Pro",
"transcript": "ENST00000514079.5",
"protein_id": "ENSP00000423317.1",
"transcript_support_level": 1,
"aa_start": 1665,
"aa_end": null,
"aa_length": 2291,
"cds_start": 4993,
"cds_end": null,
"cds_length": 6876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514079.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4837T>C",
"hgvs_p": "p.Ser1613Pro",
"transcript": "ENST00000513689.6",
"protein_id": "ENSP00000426172.2",
"transcript_support_level": 1,
"aa_start": 1613,
"aa_end": null,
"aa_length": 2287,
"cds_start": 4837,
"cds_end": null,
"cds_length": 6864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513689.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4972T>C",
"hgvs_p": "p.Ser1658Pro",
"transcript": "ENST00000515165.5",
"protein_id": "ENSP00000426098.1",
"transcript_support_level": 1,
"aa_start": 1658,
"aa_end": null,
"aa_length": 2284,
"cds_start": 4972,
"cds_end": null,
"cds_length": 6855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515165.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4972T>C",
"hgvs_p": "p.Ser1658Pro",
"transcript": "ENST00000507609.5",
"protein_id": "ENSP00000423045.1",
"transcript_support_level": 1,
"aa_start": 1658,
"aa_end": null,
"aa_length": 2277,
"cds_start": 4972,
"cds_end": null,
"cds_length": 6834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507609.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4939T>C",
"hgvs_p": "p.Ser1647Pro",
"transcript": "ENST00000512389.5",
"protein_id": "ENSP00000426261.1",
"transcript_support_level": 1,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2273,
"cds_start": 4939,
"cds_end": null,
"cds_length": 6822,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512389.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4918T>C",
"hgvs_p": "p.Ser1640Pro",
"transcript": "ENST00000429973.6",
"protein_id": "ENSP00000414388.2",
"transcript_support_level": 1,
"aa_start": 1640,
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"aa_length": 2266,
"cds_start": 4918,
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"cds_length": 6801,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429973.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4903T>C",
"hgvs_p": "p.Ser1635Pro",
"transcript": "ENST00000360761.8",
"protein_id": "ENSP00000353990.4",
"transcript_support_level": 1,
"aa_start": 1635,
"aa_end": null,
"aa_length": 2261,
"cds_start": 4903,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000360761.8"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4918T>C",
"hgvs_p": "p.Ser1640Pro",
"transcript": "ENST00000514181.5",
"protein_id": "ENSP00000425698.1",
"transcript_support_level": 1,
"aa_start": 1640,
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"aa_length": 2259,
"cds_start": 4918,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514181.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4870T>C",
"hgvs_p": "p.Ser1624Pro",
"transcript": "ENST00000352832.9",
"protein_id": "ENSP00000339302.5",
"transcript_support_level": 1,
"aa_start": 1624,
"aa_end": null,
"aa_length": 2250,
"cds_start": 4870,
"cds_end": null,
"cds_length": 6753,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352832.9"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4870T>C",
"hgvs_p": "p.Ser1624Pro",
"transcript": "ENST00000503485.5",
"protein_id": "ENSP00000427238.1",
"transcript_support_level": 1,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503485.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4849T>C",
"hgvs_p": "p.Ser1617Pro",
"transcript": "ENST00000442258.6",
"protein_id": "ENSP00000409759.2",
"transcript_support_level": 1,
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"cds_start": 4849,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442258.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4837T>C",
"hgvs_p": "p.Ser1613Pro",
"transcript": "ENST00000513964.5",
"protein_id": "ENSP00000425451.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513964.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4816T>C",
"hgvs_p": "p.Ser1606Pro",
"transcript": "ENST00000510366.5",
"protein_id": "ENSP00000426814.1",
"transcript_support_level": 1,
"aa_start": 1606,
"aa_end": null,
"aa_length": 2232,
"cds_start": 4816,
"cds_end": null,
"cds_length": 6699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510366.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1G",
"gene_hgnc_id": 1394,
"hgvs_c": "c.4801T>C",
"hgvs_p": "p.Ser1601Pro",
"transcript": "ENST00000514717.5",
"protein_id": "ENSP00000422407.1",
"transcript_support_level": 1,
"aa_start": 1601,
"aa_end": null,
"aa_length": 2227,
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"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018896.5",
"gene_symbol": "CACNA1G",
"hgnc_id": 1394,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4972T>C",
"hgvs_p": "p.Ser1658Pro"
}
],
"clinvar_disease": "Spinocerebellar ataxia type 42",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Spinocerebellar ataxia type 42",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}