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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: 4-128872032-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=128872032&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 128872032,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_199320.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "NM_199320.4",
"protein_id": "NP_955352.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000226319.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199320.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000226319.11",
"protein_id": "ENSP00000226319.6",
"transcript_support_level": 5,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199320.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226319.11"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2398G>A",
"hgvs_p": "p.Asp800Asn",
"transcript": "ENST00000947587.1",
"protein_id": "ENSP00000617646.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 875,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947587.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2371G>A",
"hgvs_p": "p.Asp791Asn",
"transcript": "ENST00000887597.1",
"protein_id": "ENSP00000557656.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 866,
"cds_start": 2371,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887597.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2371G>A",
"hgvs_p": "p.Asp791Asn",
"transcript": "ENST00000933993.1",
"protein_id": "ENSP00000604052.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 866,
"cds_start": 2371,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933993.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2371G>A",
"hgvs_p": "p.Asp791Asn",
"transcript": "ENST00000933995.1",
"protein_id": "ENSP00000604054.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 866,
"cds_start": 2371,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933995.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2371G>A",
"hgvs_p": "p.Asp791Asn",
"transcript": "ENST00000947588.1",
"protein_id": "ENSP00000617647.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 866,
"cds_start": 2371,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947588.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "NM_001287439.2",
"protein_id": "NP_001274368.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287439.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "NM_001287440.2",
"protein_id": "NP_001274369.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287440.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "NM_001287442.1",
"protein_id": "NP_001274371.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287442.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "NM_001287443.1",
"protein_id": "NP_001274372.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287443.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000512960.5",
"protein_id": "ENSP00000425730.1",
"transcript_support_level": 2,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512960.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000610919.4",
"protein_id": "ENSP00000483219.1",
"transcript_support_level": 5,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610919.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000611140.4",
"protein_id": "ENSP00000482212.1",
"transcript_support_level": 5,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611140.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000887598.1",
"protein_id": "ENSP00000557657.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887598.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000887600.1",
"protein_id": "ENSP00000557659.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887600.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000887601.1",
"protein_id": "ENSP00000557660.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887601.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000887603.1",
"protein_id": "ENSP00000557662.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887603.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000887604.1",
"protein_id": "ENSP00000557663.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887604.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000887605.1",
"protein_id": "ENSP00000557664.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887605.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000887606.1",
"protein_id": "ENSP00000557665.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887606.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JADE1",
"gene_hgnc_id": 30027,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Asp767Asn",
"transcript": "ENST00000933989.1",
"protein_id": "ENSP00000604048.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 842,
"cds_start": 2299,
"cds_end": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.65,
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"phylop100way_prediction": "Uncertain_significance",
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{
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"BS2"
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"verdict": "Likely_benign",
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{
"score": 0,
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}