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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: 3-40182317-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=40182317&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 40182317,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015460.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.971C>A",
"hgvs_p": "p.Pro324Gln",
"transcript": "NM_015460.4",
"protein_id": "NP_056275.2",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 859,
"cds_start": 971,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": "ENST00000302541.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.971C>A",
"hgvs_p": "p.Pro324Gln",
"transcript": "ENST00000302541.11",
"protein_id": "ENSP00000301972.6",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 859,
"cds_start": 971,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": "NM_015460.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.971C>A",
"hgvs_p": "p.Pro324Gln",
"transcript": "ENST00000444716.5",
"protein_id": "ENSP00000398665.1",
"transcript_support_level": 1,
"aa_start": 324,
"aa_end": null,
"aa_length": 859,
"cds_start": 971,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.704C>A",
"hgvs_p": "p.Pro235Gln",
"transcript": "ENST00000396217.7",
"protein_id": "ENSP00000379519.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 770,
"cds_start": 704,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 4877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.971C>A",
"hgvs_p": null,
"transcript": "ENST00000458292.5",
"protein_id": "ENSP00000413392.1",
"transcript_support_level": 1,
"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": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.*486C>A",
"hgvs_p": null,
"transcript": "ENST00000458441.5",
"protein_id": "ENSP00000400916.1",
"transcript_support_level": 1,
"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": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.*486C>A",
"hgvs_p": null,
"transcript": "ENST00000458441.5",
"protein_id": "ENSP00000400916.1",
"transcript_support_level": 1,
"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": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"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": "EIF1B-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.381-7595G>T",
"hgvs_p": null,
"transcript": "ENST00000625390.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.971C>A",
"hgvs_p": "p.Pro324Gln",
"transcript": "NM_001284423.2",
"protein_id": "NP_001271352.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 859,
"cds_start": 971,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.971C>A",
"hgvs_p": "p.Pro324Gln",
"transcript": "NM_001284424.2",
"protein_id": "NP_001271353.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 794,
"cds_start": 971,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.971C>A",
"hgvs_p": "p.Pro324Gln",
"transcript": "ENST00000425621.5",
"protein_id": "ENSP00000389323.1",
"transcript_support_level": 2,
"aa_start": 324,
"aa_end": null,
"aa_length": 794,
"cds_start": 971,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.704C>A",
"hgvs_p": "p.Pro235Gln",
"transcript": "NM_001284425.2",
"protein_id": "NP_001271354.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 770,
"cds_start": 704,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 4936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.410C>A",
"hgvs_p": "p.Pro137Gln",
"transcript": "NM_001284426.2",
"protein_id": "NP_001271355.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 672,
"cds_start": 410,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.410C>A",
"hgvs_p": "p.Pro137Gln",
"transcript": "ENST00000539167.2",
"protein_id": "ENSP00000438297.1",
"transcript_support_level": 2,
"aa_start": 137,
"aa_end": null,
"aa_length": 672,
"cds_start": 410,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "c.971C>A",
"hgvs_p": "p.Pro324Gln",
"transcript": "XM_011533575.2",
"protein_id": "XP_011531877.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 859,
"cds_start": 971,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.745C>A",
"hgvs_p": null,
"transcript": "ENST00000459828.5",
"protein_id": null,
"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,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRIP",
"gene_hgnc_id": 19156,
"hgvs_c": "n.1309C>A",
"hgvs_p": null,
"transcript": "NR_104316.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF1B-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.832-64581G>T",
"hgvs_p": null,
"transcript": "ENST00000626073.2",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF1B-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.351-64581G>T",
"hgvs_p": null,
"transcript": "ENST00000655651.1",
"protein_id": null,
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"cds_start": -4,
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"mane_select": 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,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF1B-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.91-64581G>T",
"hgvs_p": null,
"transcript": "ENST00000657703.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF1B-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.381-64581G>T",
"hgvs_p": null,
"transcript": "ENST00000701308.2",
"protein_id": null,
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"aa_end": null,
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"cds_start": -4,
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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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF1B-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.361-64581G>T",
"hgvs_p": null,
"transcript": "ENST00000782690.1",
"protein_id": null,
"transcript_support_level": null,
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF1B-AS1",
"gene_hgnc_id": null,
"hgvs_c": "n.337-64581G>T",
"hgvs_p": null,
"transcript": "ENST00000782691.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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{
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{
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],
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}
],
"message": null
}