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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: 8-85333547-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=85333547&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 85333547,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000523022.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "NM_001128831.4",
"protein_id": "NP_001122303.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 261,
"cds_start": 428,
"cds_end": null,
"cds_length": 786,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": "ENST00000523022.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "ENST00000523022.6",
"protein_id": "ENSP00000429798.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 261,
"cds_start": 428,
"cds_end": null,
"cds_length": 786,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": "NM_001128831.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "ENST00000523953.5",
"protein_id": "ENSP00000430656.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 261,
"cds_start": 428,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "ENST00000517618.5",
"protein_id": "ENSP00000430861.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 250,
"cds_start": 428,
"cds_end": null,
"cds_length": 753,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "NM_001128829.4",
"protein_id": "NP_001122301.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 261,
"cds_start": 428,
"cds_end": null,
"cds_length": 786,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "NM_001128830.4",
"protein_id": "NP_001122302.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 261,
"cds_start": 428,
"cds_end": null,
"cds_length": 786,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "NM_001164830.2",
"protein_id": "NP_001158302.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 261,
"cds_start": 428,
"cds_end": null,
"cds_length": 786,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "NM_001738.5",
"protein_id": "NP_001729.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 261,
"cds_start": 428,
"cds_end": null,
"cds_length": 786,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "ENST00000431316.3",
"protein_id": "ENSP00000392338.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 261,
"cds_start": 428,
"cds_end": null,
"cds_length": 786,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "ENST00000542576.5",
"protein_id": "ENSP00000443517.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 261,
"cds_start": 428,
"cds_end": null,
"cds_length": 786,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu",
"transcript": "NM_001291967.2",
"protein_id": "NP_001278896.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 195,
"cds_start": 230,
"cds_end": null,
"cds_length": 588,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.230C>A",
"hgvs_p": "p.Ala77Glu",
"transcript": "ENST00000524324.5",
"protein_id": "ENSP00000428923.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 193,
"cds_start": 230,
"cds_end": null,
"cds_length": 583,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.236C>A",
"hgvs_p": "p.Ala79Glu",
"transcript": "ENST00000521679.5",
"protein_id": "ENSP00000429300.1",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 177,
"cds_start": 236,
"cds_end": null,
"cds_length": 534,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "ENST00000517590.5",
"protein_id": "ENSP00000429843.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 174,
"cds_start": 428,
"cds_end": null,
"cds_length": 527,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "ENST00000521846.5",
"protein_id": "ENSP00000430471.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 148,
"cds_start": 428,
"cds_end": null,
"cds_length": 448,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Ala30Glu",
"transcript": "NM_001291968.2",
"protein_id": "NP_001278897.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 148,
"cds_start": 89,
"cds_end": null,
"cds_length": 447,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "ENST00000522579.5",
"protein_id": "ENSP00000427852.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 148,
"cds_start": 428,
"cds_end": null,
"cds_length": 447,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ala143Glu",
"transcript": "ENST00000522814.5",
"protein_id": "ENSP00000430737.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 147,
"cds_start": 428,
"cds_end": null,
"cds_length": 445,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Ala30Glu",
"transcript": "ENST00000519991.5",
"protein_id": "ENSP00000430543.1",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 136,
"cds_start": 89,
"cds_end": null,
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"cdna_start": 203,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Ala30Glu",
"transcript": "ENST00000522389.5",
"protein_id": "ENSP00000427773.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 127,
"cds_start": 89,
"cds_end": null,
"cds_length": 384,
"cdna_start": 135,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Ala30Glu",
"transcript": "ENST00000626824.1",
"protein_id": "ENSP00000486171.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 127,
"cds_start": 89,
"cds_end": null,
"cds_length": 384,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.89C>A",
"hgvs_p": "p.Ala30Glu",
"transcript": "ENST00000520663.5",
"protein_id": "ENSP00000430571.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 86,
"cds_start": 89,
"cds_end": null,
"cds_length": 263,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 454,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "n.*233C>A",
"hgvs_p": null,
"transcript": "ENST00000517429.5",
"protein_id": "ENSP00000430710.1",
"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,
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{
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"PP3_Strong"
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"verdict": "Likely_pathogenic",
"transcript": "ENST00000523022.6",
"gene_symbol": "CA1",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ala143Glu"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}