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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: 19-2757775-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=2757775&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 2757775,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003021.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "NM_003021.4",
"protein_id": "NP_003012.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221566.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003021.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000221566.7",
"protein_id": "ENSP00000221566.1",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003021.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221566.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"transcript": "ENST00000677562.1",
"protein_id": "ENSP00000504146.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 360,
"cds_start": 707,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677562.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Ser",
"transcript": "ENST00000927733.1",
"protein_id": "ENSP00000597792.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 335,
"cds_start": 811,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927733.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000676943.1",
"protein_id": "ENSP00000504495.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676943.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000897082.1",
"protein_id": "ENSP00000567141.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897082.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000897083.1",
"protein_id": "ENSP00000567142.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897083.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000897085.1",
"protein_id": "ENSP00000567144.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897085.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000897086.1",
"protein_id": "ENSP00000567145.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897086.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000897087.1",
"protein_id": "ENSP00000567146.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897087.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000927731.1",
"protein_id": "ENSP00000597790.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927731.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000927732.1",
"protein_id": "ENSP00000597791.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927732.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000927735.1",
"protein_id": "ENSP00000597794.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927735.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000927736.1",
"protein_id": "ENSP00000597795.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927736.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000927738.1",
"protein_id": "ENSP00000597797.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927738.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000927739.1",
"protein_id": "ENSP00000597798.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927739.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000927740.1",
"protein_id": "ENSP00000597799.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927740.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000927741.1",
"protein_id": "ENSP00000597800.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927741.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000952639.1",
"protein_id": "ENSP00000622698.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952639.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000952640.1",
"protein_id": "ENSP00000622699.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952640.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
"transcript": "ENST00000952641.1",
"protein_id": "ENSP00000622700.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 313,
"cds_start": 745,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952641.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGTA",
"gene_hgnc_id": 10819,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Gly248Ser",
"transcript": "ENST00000897084.1",
"protein_id": "ENSP00000567143.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 312,
"cds_start": 742,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897084.1"
},
{
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"acmg_criteria": "",
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{
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"criteria": [],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}