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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: 12-120198609-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120198609&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120198609,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001002.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "NM_001002.4",
"protein_id": "NP_000993.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 317,
"cds_start": 596,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392514.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "ENST00000392514.9",
"protein_id": "ENSP00000376299.4",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 317,
"cds_start": 596,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001002.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392514.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "ENST00000228306.8",
"protein_id": "ENSP00000339027.3",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 317,
"cds_start": 596,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228306.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "ENST00000551150.5",
"protein_id": "ENSP00000449328.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 317,
"cds_start": 596,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551150.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.465+245A>G",
"hgvs_p": null,
"transcript": "ENST00000313104.9",
"protein_id": "ENSP00000366471.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313104.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "n.876A>G",
"hgvs_p": null,
"transcript": "ENST00000548568.5",
"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": "ENST00000548568.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "NM_053275.4",
"protein_id": "NP_444505.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 317,
"cds_start": 596,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053275.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "ENST00000874749.1",
"protein_id": "ENSP00000544808.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 317,
"cds_start": 596,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874749.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "ENST00000926182.1",
"protein_id": "ENSP00000596241.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 317,
"cds_start": 596,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926182.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "ENST00000971889.1",
"protein_id": "ENSP00000641948.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 317,
"cds_start": 596,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971889.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "ENST00000874756.1",
"protein_id": "ENSP00000544815.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 315,
"cds_start": 596,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874756.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Tyr195Cys",
"transcript": "ENST00000874750.1",
"protein_id": "ENSP00000544809.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 313,
"cds_start": 584,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874750.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "ENST00000926183.1",
"protein_id": "ENSP00000596242.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 306,
"cds_start": 596,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926183.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.596A>G",
"hgvs_p": "p.Tyr199Cys",
"transcript": "ENST00000926187.1",
"protein_id": "ENSP00000596246.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 306,
"cds_start": 596,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926187.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.536A>G",
"hgvs_p": "p.Tyr179Cys",
"transcript": "ENST00000874755.1",
"protein_id": "ENSP00000544814.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 297,
"cds_start": 536,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874755.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.533A>G",
"hgvs_p": "p.Tyr178Cys",
"transcript": "ENST00000874751.1",
"protein_id": "ENSP00000544810.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 296,
"cds_start": 533,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874751.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Tyr166Cys",
"transcript": "ENST00000926192.1",
"protein_id": "ENSP00000596251.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 284,
"cds_start": 497,
"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": "ENST00000926192.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Tyr166Cys",
"transcript": "ENST00000926197.1",
"protein_id": "ENSP00000596256.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 284,
"cds_start": 497,
"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": "ENST00000926197.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Tyr164Cys",
"transcript": "ENST00000874747.1",
"protein_id": "ENSP00000544806.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 282,
"cds_start": 491,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874747.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Tyr164Cys",
"transcript": "ENST00000926185.1",
"protein_id": "ENSP00000596244.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 282,
"cds_start": 491,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926185.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.Tyr163Cys",
"transcript": "ENST00000546989.5",
"protein_id": "ENSP00000449205.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 281,
"cds_start": 488,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546989.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"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": "RPLP0",
"gene_hgnc_id": 10371,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.Tyr163Cys",
"transcript": "ENST00000874753.1",
"protein_id": "ENSP00000544812.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 281,
"cds_start": 488,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
"gene_symbol": "RPLP0",
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"dbsnp": "rs1478832615",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.627,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9008,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.93,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
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"PP3"
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"verdict": "Uncertain_significance",
"transcript": "NM_001002.4",
"gene_symbol": "RPLP0",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Tyr199Cys"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}