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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: 16-67280029-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67280029&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67280029,
"ref": "C",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000379344.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000393966.1",
"protein_id": "ENSP00000462601.1",
"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": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "NM_001129729.3",
"protein_id": "NP_001123201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": "ENST00000379344.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000379344.8",
"protein_id": "ENSP00000368649.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": "NM_001129729.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000450733.5",
"protein_id": "ENSP00000398030.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1110,
"cds_start": -4,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000393966.1",
"protein_id": "ENSP00000462601.1",
"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": 2182,
"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": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000563969.5",
"protein_id": "ENSP00000457086.1",
"transcript_support_level": 2,
"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": 6949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "NM_001129727.3",
"protein_id": "NP_001123199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "NM_001129728.2",
"protein_id": "NP_001123200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000360461.9",
"protein_id": "ENSP00000353646.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000427155.6",
"protein_id": "ENSP00000401118.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "NM_001129731.3",
"protein_id": "NP_001123203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1110,
"cds_start": -4,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000565773.1",
"protein_id": "ENSP00000455876.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": -4,
"cds_end": null,
"cds_length": 324,
"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": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000567938.1",
"protein_id": "ENSP00000455740.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000562144.5",
"protein_id": "ENSP00000454348.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
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"cds_length": 229,
"cdna_start": null,
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"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000565899.1",
"protein_id": "ENSP00000455423.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": -4,
"cds_end": null,
"cds_length": 221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000562744.1",
"protein_id": "ENSP00000455622.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000568621.1",
"protein_id": "ENSP00000456873.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 35,
"cds_start": -4,
"cds_end": null,
"cds_length": 108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.-16C>G",
"hgvs_p": null,
"transcript": "ENST00000563969.5",
"protein_id": "ENSP00000457086.1",
"transcript_support_level": 2,
"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": 6949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "XM_011522985.3",
"protein_id": "XP_011521287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "XM_011522986.3",
"protein_id": "XP_011521288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "XM_011522987.3",
"protein_id": "XP_011521289.1",
"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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"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "XM_011522988.3",
"protein_id": "XP_011521290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": -4,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.-16C>G",
"hgvs_p": null,
"transcript": "XM_047433893.1",
"protein_id": "XP_047289849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1159,
"cds_start": -4,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
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}