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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: 14-77453359-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77453359&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77453359,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022067.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "NM_001193315.2",
"protein_id": "NP_001180244.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000557658.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193315.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000557658.6",
"protein_id": "ENSP00000452191.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001193315.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557658.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000343765.6",
"protein_id": "ENSP00000339122.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343765.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.214G>T",
"hgvs_p": "p.Val72Leu",
"transcript": "ENST00000556412.4",
"protein_id": "ENSP00000451857.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 519,
"cds_start": 214,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556412.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000897625.1",
"protein_id": "ENSP00000567684.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 501,
"cds_start": 136,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897625.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000897630.1",
"protein_id": "ENSP00000567689.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 501,
"cds_start": 136,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897630.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "NM_001193314.2",
"protein_id": "NP_001180243.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193314.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "NM_001193317.2",
"protein_id": "NP_001180246.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193317.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "NM_001400326.1",
"protein_id": "NP_001387255.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400326.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "NM_022067.4",
"protein_id": "NP_071350.2",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022067.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000553888.5",
"protein_id": "ENSP00000452181.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553888.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000897629.1",
"protein_id": "ENSP00000567688.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897629.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000951346.1",
"protein_id": "ENSP00000621405.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951346.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000951347.1",
"protein_id": "ENSP00000621406.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951347.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000951350.1",
"protein_id": "ENSP00000621409.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 493,
"cds_start": 136,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951350.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000951353.1",
"protein_id": "ENSP00000621412.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 488,
"cds_start": 136,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951353.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "NM_001400327.1",
"protein_id": "NP_001387256.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 482,
"cds_start": 136,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400327.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000951349.1",
"protein_id": "ENSP00000621408.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 470,
"cds_start": 136,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951349.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "NM_001400330.1",
"protein_id": "NP_001387259.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 464,
"cds_start": 136,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400330.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "NM_001400331.1",
"protein_id": "NP_001387260.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 464,
"cds_start": 136,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400331.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "NM_001400332.1",
"protein_id": "NP_001387261.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 464,
"cds_start": 136,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400332.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu",
"transcript": "ENST00000897631.1",
"protein_id": "ENSP00000567690.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 464,
"cds_start": 136,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.652,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022067.4",
"gene_symbol": "VIPAS39",
"hgnc_id": 20347,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Val46Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}