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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: 11-118520660-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118520660&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118520660,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001197104.2",
"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": 36,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11430-142A>C",
"hgvs_p": null,
"transcript": "NM_001197104.2",
"protein_id": "NP_001184033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3972,
"cds_start": -4,
"cds_end": null,
"cds_length": 11919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16600,
"mane_select": "ENST00000534358.8",
"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": 36,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11430-142A>C",
"hgvs_p": null,
"transcript": "ENST00000534358.8",
"protein_id": "ENSP00000436786.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3972,
"cds_start": -4,
"cds_end": null,
"cds_length": 11919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16600,
"mane_select": "NM_001197104.2",
"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": 36,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11421-142A>C",
"hgvs_p": null,
"transcript": "ENST00000389506.10",
"protein_id": "ENSP00000374157.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3969,
"cds_start": -4,
"cds_end": null,
"cds_length": 11910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13678,
"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": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11529-142A>C",
"hgvs_p": null,
"transcript": "ENST00000531904.7",
"protein_id": "ENSP00000432391.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 4005,
"cds_start": -4,
"cds_end": null,
"cds_length": 12018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16699,
"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": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11520-142A>C",
"hgvs_p": null,
"transcript": "NM_001412597.1",
"protein_id": "NP_001399526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4002,
"cds_start": -4,
"cds_end": null,
"cds_length": 12009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16690,
"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": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11520-142A>C",
"hgvs_p": null,
"transcript": "ENST00000710560.1",
"protein_id": "ENSP00000518343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4002,
"cds_start": -4,
"cds_end": null,
"cds_length": 12009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16725,
"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": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11502-142A>C",
"hgvs_p": null,
"transcript": "ENST00000691053.1",
"protein_id": "ENSP00000509168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3996,
"cds_start": -4,
"cds_end": null,
"cds_length": 11991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13708,
"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": 36,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11421-142A>C",
"hgvs_p": null,
"transcript": "NM_005933.4",
"protein_id": "NP_005924.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3969,
"cds_start": -4,
"cds_end": null,
"cds_length": 11910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16591,
"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": 35,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11307-142A>C",
"hgvs_p": null,
"transcript": "ENST00000649699.1",
"protein_id": "ENSP00000496927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3931,
"cds_start": -4,
"cds_end": null,
"cds_length": 11796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.345-142A>C",
"hgvs_p": null,
"transcript": "ENST00000525408.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC36-AS1",
"gene_hgnc_id": 55495,
"hgvs_c": "n.136+586T>G",
"hgvs_p": null,
"transcript": "ENST00000525992.2",
"protein_id": null,
"transcript_support_level": 3,
"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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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "KMT2A",
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"hgvs_c": "n.930-142A>C",
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"transcript": "ENST00000527839.2",
"protein_id": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "TTC36-AS1",
"gene_hgnc_id": 55495,
"hgvs_c": "n.222+606T>G",
"hgvs_p": null,
"transcript": "ENST00000528578.5",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 3,
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"gene_symbol": "TTC36-AS1",
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"hgvs_c": "n.241+606T>G",
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"transcript": "ENST00000532597.6",
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},
{
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],
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"hgvs_c": "n.321+606T>G",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "TTC36-AS1",
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"hgvs_c": "n.200+606T>G",
"hgvs_p": null,
"transcript": "ENST00000556583.2",
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},
{
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],
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"gene_symbol": "KMT2A",
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"transcript": "ENST00000648565.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
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"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.*11-142A>C",
"hgvs_p": null,
"transcript": "ENST00000686588.1",
"protein_id": "ENSP00000510552.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC36-AS1",
"gene_hgnc_id": 55495,
"hgvs_c": "n.200+606T>G",
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"transcript": "ENST00000719865.1",
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},
{
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],
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"gene_symbol": "TTC36-AS1",
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},
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],
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"gene_symbol": "TTC36-AS1",
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},
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],
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"exon_count": 3,
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"gene_symbol": "TTC36-AS1",
"gene_hgnc_id": 55495,
"hgvs_c": "n.321+606T>G",
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"transcript": "NR_120573.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC36-AS1",
"gene_hgnc_id": 55495,
"hgvs_c": "n.321+606T>G",
"hgvs_p": null,
"transcript": "NR_120574.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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}