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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: 3-39407686-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=39407686&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 39407686,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001304288.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "NM_002295.6",
"protein_id": "NP_002286.2",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301821.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002295.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000301821.11",
"protein_id": "ENSP00000346067.4",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002295.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301821.11"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000443003.2",
"protein_id": "ENSP00000389351.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 300,
"cds_start": 33,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443003.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "n.113G>A",
"hgvs_p": null,
"transcript": "ENST00000475346.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475346.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "NM_001304288.2",
"protein_id": "NP_001291217.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 300,
"cds_start": 33,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304288.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000922536.1",
"protein_id": "ENSP00000592595.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 300,
"cds_start": 33,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922536.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000922539.1",
"protein_id": "ENSP00000592598.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 300,
"cds_start": 33,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922539.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000458478.6",
"protein_id": "ENSP00000410848.2",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458478.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000697729.1",
"protein_id": "ENSP00000513423.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697729.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000697730.1",
"protein_id": "ENSP00000513424.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697730.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000697731.1",
"protein_id": "ENSP00000513425.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697731.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000869093.1",
"protein_id": "ENSP00000539152.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869093.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000869094.1",
"protein_id": "ENSP00000539153.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869094.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000922533.1",
"protein_id": "ENSP00000592592.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922533.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000922542.1",
"protein_id": "ENSP00000592601.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922542.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000922543.1",
"protein_id": "ENSP00000592602.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922543.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000922544.1",
"protein_id": "ENSP00000592603.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922544.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000956236.1",
"protein_id": "ENSP00000626295.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 293,
"cds_start": 33,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956236.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000922532.1",
"protein_id": "ENSP00000592591.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 290,
"cds_start": 33,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922532.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000869095.1",
"protein_id": "ENSP00000539154.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 284,
"cds_start": 33,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869095.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000697728.1",
"protein_id": "ENSP00000513422.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 274,
"cds_start": 33,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697728.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPSA",
"gene_hgnc_id": 6502,
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Lys11Lys",
"transcript": "ENST00000922534.1",
"protein_id": "ENSP00000592593.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 268,
"cds_start": 33,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922534.1"
},
{
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],
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"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.3,
"phylop100way_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001304288.2",
"gene_symbol": "RPSA",
"hgnc_id": 6502,
"effects": [
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],
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}