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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: 3-12839491-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12839491&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12839491,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000994.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "NM_000994.4",
"protein_id": "NP_000985.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429711.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000994.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000429711.7",
"protein_id": "ENSP00000416429.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000994.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429711.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000396953.6",
"protein_id": "ENSP00000380156.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396953.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289809",
"gene_hgnc_id": null,
"hgvs_c": "c.267+7919G>T",
"hgvs_p": null,
"transcript": "ENST00000454887.1",
"protein_id": "ENSP00000403093.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454887.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.190C>A",
"hgvs_p": "p.Arg64Ser",
"transcript": "ENST00000273223.10",
"protein_id": "ENSP00000339064.5",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 153,
"cds_start": 190,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273223.10"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "NM_001007073.1",
"protein_id": "NP_001007074.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007073.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "NM_001007074.1",
"protein_id": "NP_001007075.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007074.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000396957.5",
"protein_id": "ENSP00000380158.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396957.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000435983.5",
"protein_id": "ENSP00000388674.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435983.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000865045.1",
"protein_id": "ENSP00000535104.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865045.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000865046.1",
"protein_id": "ENSP00000535105.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865046.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935876.1",
"protein_id": "ENSP00000605935.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935876.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935877.1",
"protein_id": "ENSP00000605936.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935877.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935878.1",
"protein_id": "ENSP00000605937.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935878.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935879.1",
"protein_id": "ENSP00000605938.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935879.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935880.1",
"protein_id": "ENSP00000605939.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935880.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935881.1",
"protein_id": "ENSP00000605940.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935881.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935882.1",
"protein_id": "ENSP00000605941.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935882.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935884.1",
"protein_id": "ENSP00000605943.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935884.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935885.1",
"protein_id": "ENSP00000605944.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935885.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935886.1",
"protein_id": "ENSP00000605945.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935886.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL32",
"gene_hgnc_id": 10336,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000935887.1",
"protein_id": "ENSP00000605946.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 135,
"cds_start": 136,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935887.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.458,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000994.4",
"gene_symbol": "RPL32",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 4,
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000454887.1",
"gene_symbol": "ENSG00000289809",
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"effects": [
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],
"inheritance_mode": "",
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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
}