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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: 5-138951857-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138951857&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138951857,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_022464.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "NM_022464.5",
"protein_id": "NP_071909.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394817.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022464.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000394817.7",
"protein_id": "ENSP00000378294.2",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022464.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394817.7"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Ile71Ile",
"transcript": "ENST00000505945.1",
"protein_id": "ENSP00000425136.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 82,
"cds_start": 213,
"cds_end": null,
"cds_length": 250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505945.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Ile309Ile",
"transcript": "ENST00000868003.1",
"protein_id": "ENSP00000538062.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 505,
"cds_start": 927,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868003.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.924C>T",
"hgvs_p": "p.Ile308Ile",
"transcript": "ENST00000868009.1",
"protein_id": "ENSP00000538068.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 504,
"cds_start": 924,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868009.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.828C>T",
"hgvs_p": "p.Ile276Ile",
"transcript": "ENST00000868008.1",
"protein_id": "ENSP00000538067.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 472,
"cds_start": 828,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868008.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.816C>T",
"hgvs_p": "p.Ile272Ile",
"transcript": "ENST00000509534.5",
"protein_id": "ENSP00000426858.1",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 468,
"cds_start": 816,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509534.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "NM_001037633.2",
"protein_id": "NP_001032722.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037633.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000265195.9",
"protein_id": "ENSP00000265195.5",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265195.9"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000868002.1",
"protein_id": "ENSP00000538061.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868002.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000868004.1",
"protein_id": "ENSP00000538063.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868004.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000868005.1",
"protein_id": "ENSP00000538064.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868005.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000868006.1",
"protein_id": "ENSP00000538065.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868006.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000868007.1",
"protein_id": "ENSP00000538066.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868007.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000868010.1",
"protein_id": "ENSP00000538069.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868010.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000868011.1",
"protein_id": "ENSP00000538070.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868011.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000948133.1",
"protein_id": "ENSP00000618192.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948133.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000948134.1",
"protein_id": "ENSP00000618193.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948134.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000948135.1",
"protein_id": "ENSP00000618194.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948135.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000948136.1",
"protein_id": "ENSP00000618195.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948136.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000948137.1",
"protein_id": "ENSP00000618196.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948137.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIL1",
"gene_hgnc_id": 24624,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Ile265Ile",
"transcript": "ENST00000948140.1",
"protein_id": "ENSP00000618199.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 461,
"cds_start": 795,
"cds_end": null,
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{
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],
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "not specified|Marinesco-Sjögren syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}