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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: 17-1745346-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1745346&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1745346,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000934.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_000934.4",
"protein_id": "NP_000925.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000453066.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000934.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000453066.6",
"protein_id": "ENSP00000402286.2",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000934.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453066.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000382061.5",
"protein_id": "ENSP00000371493.4",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382061.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883620.1",
"protein_id": "ENSP00000553679.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 545,
"cds_start": 116,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883620.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883601.1",
"protein_id": "ENSP00000553660.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 531,
"cds_start": 116,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883601.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883615.1",
"protein_id": "ENSP00000553674.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 531,
"cds_start": 116,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883615.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883646.1",
"protein_id": "ENSP00000553705.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 531,
"cds_start": 116,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883646.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883634.1",
"protein_id": "ENSP00000553693.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 526,
"cds_start": 116,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883634.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883608.1",
"protein_id": "ENSP00000553667.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 507,
"cds_start": 116,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883608.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_001165920.1",
"protein_id": "NP_001159392.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165920.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000324015.7",
"protein_id": "ENSP00000321853.3",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324015.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883591.1",
"protein_id": "ENSP00000553650.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883591.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883592.1",
"protein_id": "ENSP00000553651.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883592.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883594.1",
"protein_id": "ENSP00000553653.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883594.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883595.1",
"protein_id": "ENSP00000553654.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883595.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883597.1",
"protein_id": "ENSP00000553656.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883597.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883600.1",
"protein_id": "ENSP00000553659.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883600.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883602.1",
"protein_id": "ENSP00000553661.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883602.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883605.1",
"protein_id": "ENSP00000553664.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883605.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883607.1",
"protein_id": "ENSP00000553666.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883607.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883612.1",
"protein_id": "ENSP00000553671.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883612.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000883613.1",
"protein_id": "ENSP00000553672.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 491,
"cds_start": 116,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}