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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: 12-57535097-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57535097&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57535097,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000548249.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.His108Tyr",
"transcript": "NM_001261413.2",
"protein_id": "NP_001248342.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 401,
"cds_start": 322,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": "ENST00000548249.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.His108Tyr",
"transcript": "ENST00000548249.6",
"protein_id": "ENSP00000447824.1",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 401,
"cds_start": 322,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": "NM_001261413.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001348065.2",
"protein_id": "NP_001334994.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 446,
"cds_start": 457,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.His113Tyr",
"transcript": "NM_006400.5",
"protein_id": "NP_006391.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 406,
"cds_start": 337,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 1988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.His113Tyr",
"transcript": "ENST00000434715.7",
"protein_id": "ENSP00000408910.3",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 406,
"cds_start": 337,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.His110Tyr",
"transcript": "NM_001261412.2",
"protein_id": "NP_001248341.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 403,
"cds_start": 328,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.328C>T",
"hgvs_p": "p.His110Tyr",
"transcript": "ENST00000543672.6",
"protein_id": "ENSP00000439376.2",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 403,
"cds_start": 328,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.His108Tyr",
"transcript": "ENST00000678505.1",
"protein_id": "ENSP00000504083.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 379,
"cds_start": 322,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.His85Tyr",
"transcript": "NM_001348066.2",
"protein_id": "NP_001334995.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 378,
"cds_start": 253,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.253C>T",
"hgvs_p": "p.His85Tyr",
"transcript": "ENST00000678322.1",
"protein_id": "ENSP00000504233.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 378,
"cds_start": 253,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.61C>T",
"hgvs_p": "p.His21Tyr",
"transcript": "NM_001348067.2",
"protein_id": "NP_001334996.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 314,
"cds_start": 61,
"cds_end": null,
"cds_length": 945,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.61C>T",
"hgvs_p": "p.His21Tyr",
"transcript": "NM_001348068.2",
"protein_id": "NP_001334997.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 314,
"cds_start": 61,
"cds_end": null,
"cds_length": 945,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.61C>T",
"hgvs_p": "p.His21Tyr",
"transcript": "ENST00000678653.1",
"protein_id": "ENSP00000504380.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 314,
"cds_start": 61,
"cds_end": null,
"cds_length": 945,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.His122Tyr",
"transcript": "ENST00000550954.5",
"protein_id": "ENSP00000449855.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
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"cds_start": 364,
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"cdna_start": 422,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.His108Tyr",
"transcript": "ENST00000546670.5",
"protein_id": "ENSP00000448606.1",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 151,
"cds_start": 322,
"cds_end": null,
"cds_length": 458,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.His73Tyr",
"transcript": "ENST00000550086.5",
"protein_id": "ENSP00000447308.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
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"cds_start": 217,
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"cdna_start": 217,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.His113Tyr",
"transcript": "XM_047428084.1",
"protein_id": "XP_047284040.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 337,
"cds_end": null,
"cds_length": 963,
"cdna_start": 466,
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"cdna_length": 1160,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "n.251C>T",
"hgvs_p": null,
"transcript": "ENST00000546965.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 542,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "n.447C>T",
"hgvs_p": null,
"transcript": "ENST00000547345.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "n.217C>T",
"hgvs_p": null,
"transcript": "ENST00000548949.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"transcript": "ENST00000549394.5",
"protein_id": "ENSP00000447553.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "n.322C>T",
"hgvs_p": null,
"transcript": "ENST00000550201.5",
"protein_id": "ENSP00000446964.1",
"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,
"cdna_end": null,
"cdna_length": 1527,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN2",
"gene_hgnc_id": 2712,
"hgvs_c": "n.*207C>T",
"hgvs_p": null,
"transcript": "ENST00000550750.2",
"protein_id": "ENSP00000449710.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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{
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],
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Charcot-Marie-Tooth disease",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}