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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: 18-47060731-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=47060731&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 47060731,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000683218.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.549+1077A>C",
"hgvs_p": null,
"transcript": "NM_001387690.1",
"protein_id": "NP_001374619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": "ENST00000683218.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.549+1077A>C",
"hgvs_p": null,
"transcript": "ENST00000683218.1",
"protein_id": "ENSP00000508137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": "NM_001387690.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.333+1077A>C",
"hgvs_p": null,
"transcript": "ENST00000245121.10",
"protein_id": "ENSP00000245121.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.216+1077A>C",
"hgvs_p": null,
"transcript": "ENST00000591522.2",
"protein_id": "ENSP00000467488.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.52-14546A>C",
"hgvs_p": null,
"transcript": "ENST00000592005.5",
"protein_id": "ENSP00000467610.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.627+1077A>C",
"hgvs_p": null,
"transcript": "NM_001353899.1",
"protein_id": "NP_001340828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": -4,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.624+1077A>C",
"hgvs_p": null,
"transcript": "NM_001353900.1",
"protein_id": "NP_001340829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": -4,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.549+1077A>C",
"hgvs_p": null,
"transcript": "NM_001367621.1",
"protein_id": "NP_001354550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.549+1077A>C",
"hgvs_p": null,
"transcript": "ENST00000356157.12",
"protein_id": "ENSP00000348478.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.549+1077A>C",
"hgvs_p": null,
"transcript": "NM_001353901.1",
"protein_id": "NP_001340830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
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"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.627+1077A>C",
"hgvs_p": null,
"transcript": "NM_001353902.1",
"protein_id": "NP_001340831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 5,
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"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.333+1077A>C",
"hgvs_p": null,
"transcript": "NM_031303.3",
"protein_id": "NP_112593.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 5,
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"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.216+1077A>C",
"hgvs_p": null,
"transcript": "NM_001353903.1",
"protein_id": "NP_001340832.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 6,
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"gene_symbol": "KATNAL2",
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"hgvs_c": "c.216+1077A>C",
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"transcript": "ENST00000588433.6",
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},
{
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],
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"gene_symbol": "KATNAL2",
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"hgvs_c": "c.216+1077A>C",
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"transcript": "NM_001353904.1",
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},
{
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],
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"intron_rank": 8,
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"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.216+1077A>C",
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"transcript": "NM_001353905.1",
"protein_id": "NP_001340834.1",
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},
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],
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"intron_rank": 5,
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"gene_symbol": "KATNAL2",
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"hgvs_c": "c.216+1077A>C",
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"transcript": "NM_001353906.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.216+1077A>C",
"hgvs_p": null,
"transcript": "NM_001353907.1",
"protein_id": "NP_001340836.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "KATNAL2",
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"hgvs_c": "c.216+1077A>C",
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"transcript": "NM_001353908.1",
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},
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],
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"gene_symbol": "KATNAL2",
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},
{
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"strand": true,
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],
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"intron_rank": 5,
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"gene_symbol": "KATNAL2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "c.489+1077A>C",
"hgvs_p": null,
"transcript": "ENST00000585469.5",
"protein_id": "ENSP00000466674.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KATNAL2",
"gene_hgnc_id": 25387,
"hgvs_c": "n.716+1077A>C",
"hgvs_p": null,
"transcript": "ENST00000685144.1",
"protein_id": null,
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