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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: 9-23701515-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=23701515&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 23701515,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001351455.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Gly193Ser",
"transcript": "NM_004432.5",
"protein_id": "NP_004423.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 359,
"cds_start": 577,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397312.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004432.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Gly193Ser",
"transcript": "ENST00000397312.7",
"protein_id": "ENSP00000380479.2",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 359,
"cds_start": 577,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004432.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397312.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Gly193Ser",
"transcript": "ENST00000380117.5",
"protein_id": "ENSP00000369460.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 359,
"cds_start": 577,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380117.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Gly193Ser",
"transcript": "ENST00000223951.10",
"protein_id": "ENSP00000223951.5",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 346,
"cds_start": 577,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223951.10"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001351455.2",
"protein_id": "NP_001338384.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 389,
"cds_start": 664,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351455.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001385697.1",
"protein_id": "NP_001372626.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 389,
"cds_start": 664,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385697.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001385698.1",
"protein_id": "NP_001372627.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 389,
"cds_start": 664,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385698.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001385704.1",
"protein_id": "NP_001372633.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 389,
"cds_start": 664,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385704.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "ENST00000380110.8",
"protein_id": "ENSP00000369453.4",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 389,
"cds_start": 664,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380110.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001351456.2",
"protein_id": "NP_001338385.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 388,
"cds_start": 664,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351456.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001351457.2",
"protein_id": "NP_001338386.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 388,
"cds_start": 664,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351457.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001351458.2",
"protein_id": "NP_001338387.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 388,
"cds_start": 664,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351458.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001351459.2",
"protein_id": "NP_001338388.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 388,
"cds_start": 664,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351459.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "NM_001351460.2",
"protein_id": "NP_001338389.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 388,
"cds_start": 661,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351460.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "NM_001351461.2",
"protein_id": "NP_001338390.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 388,
"cds_start": 661,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351461.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001385699.1",
"protein_id": "NP_001372628.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 388,
"cds_start": 664,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385699.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "NM_001385700.1",
"protein_id": "NP_001372629.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 388,
"cds_start": 661,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385700.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001385707.1",
"protein_id": "NP_001372636.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 388,
"cds_start": 664,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385707.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "NM_001351462.2",
"protein_id": "NP_001338391.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 387,
"cds_start": 661,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351462.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "NM_001351463.2",
"protein_id": "NP_001338392.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 387,
"cds_start": 661,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351463.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001385695.1",
"protein_id": "NP_001372624.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 376,
"cds_start": 664,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385695.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Gly222Ser",
"transcript": "NM_001351464.2",
"protein_id": "NP_001338393.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 375,
"cds_start": 664,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.634375810623169,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.536,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001351455.2",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Gly222Ser"
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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
}