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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: 7-97852307-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=97852307&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 97852307,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001673.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "NM_001673.5",
"protein_id": "NP_001664.3",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394308.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001673.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000394308.8",
"protein_id": "ENSP00000377845.3",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001673.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394308.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000175506.8",
"protein_id": "ENSP00000175506.4",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000175506.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1686C>A",
"hgvs_p": "p.Asp562Glu",
"transcript": "ENST00000931349.1",
"protein_id": "ENSP00000601408.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 577,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931349.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1641C>A",
"hgvs_p": "p.Asp547Glu",
"transcript": "ENST00000884569.1",
"protein_id": "ENSP00000554628.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 562,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884569.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "NM_001352496.2",
"protein_id": "NP_001339425.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352496.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "NM_133436.3",
"protein_id": "NP_597680.2",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133436.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "NM_183356.4",
"protein_id": "NP_899199.2",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183356.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000394309.7",
"protein_id": "ENSP00000377846.3",
"transcript_support_level": 2,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394309.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000884568.1",
"protein_id": "ENSP00000554627.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884568.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000884570.1",
"protein_id": "ENSP00000554629.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884570.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000931343.1",
"protein_id": "ENSP00000601402.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931343.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000931345.1",
"protein_id": "ENSP00000601404.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931345.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000931346.1",
"protein_id": "ENSP00000601405.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931346.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000931350.1",
"protein_id": "ENSP00000601409.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931350.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000968225.1",
"protein_id": "ENSP00000638284.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968225.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1638C>A",
"hgvs_p": "p.Asp546Glu",
"transcript": "ENST00000968227.1",
"protein_id": "ENSP00000638286.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 561,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968227.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1629C>A",
"hgvs_p": "p.Asp543Glu",
"transcript": "ENST00000931344.1",
"protein_id": "ENSP00000601403.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 558,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931344.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1575C>A",
"hgvs_p": "p.Asp525Glu",
"transcript": "NM_001178075.2",
"protein_id": "NP_001171546.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 540,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178075.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1575C>A",
"hgvs_p": "p.Asp525Glu",
"transcript": "ENST00000422745.5",
"protein_id": "ENSP00000414901.1",
"transcript_support_level": 5,
"aa_start": 525,
"aa_end": null,
"aa_length": 540,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422745.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1575C>A",
"hgvs_p": "p.Asp525Glu",
"transcript": "ENST00000444334.5",
"protein_id": "ENSP00000406994.1",
"transcript_support_level": 2,
"aa_start": 525,
"aa_end": null,
"aa_length": 540,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444334.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASNS",
"gene_hgnc_id": 753,
"hgvs_c": "c.1443C>A",
"hgvs_p": "p.Asp481Glu",
"transcript": "ENST00000968226.1",
"protein_id": "ENSP00000638285.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 496,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968226.1"
},
{
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"PM2",
"PP2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001673.5",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 3,
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"PP3"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "CZ1P-ASNS",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 3,
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"PP3"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "ENSG00000284707",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}