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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: 9-127447884-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127447884&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127447884,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000976.4",
"consequences": [
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.485G>C",
"hgvs_p": "p.Cys162Ser",
"transcript": "NM_000976.4",
"protein_id": "NP_000967.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 165,
"cds_start": 485,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361436.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000976.4"
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.485G>C",
"hgvs_p": "p.Cys162Ser",
"transcript": "ENST00000361436.10",
"protein_id": "ENSP00000354739.5",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 165,
"cds_start": 485,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000976.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361436.10"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.386G>C",
"hgvs_p": "p.Cys129Ser",
"transcript": "ENST00000536368.1",
"protein_id": "ENSP00000441179.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 132,
"cds_start": 386,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536368.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.560G>C",
"hgvs_p": "p.Cys187Ser",
"transcript": "ENST00000886311.1",
"protein_id": "ENSP00000556370.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 190,
"cds_start": 560,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886311.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.521G>C",
"hgvs_p": "p.Cys174Ser",
"transcript": "ENST00000938720.1",
"protein_id": "ENSP00000608779.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 177,
"cds_start": 521,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938720.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Cys170Ser",
"transcript": "ENST00000938719.1",
"protein_id": "ENSP00000608778.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 173,
"cds_start": 509,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938719.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Cys170Ser",
"transcript": "ENST00000938721.1",
"protein_id": "ENSP00000608780.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 173,
"cds_start": 509,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938721.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.500G>C",
"hgvs_p": "p.Cys167Ser",
"transcript": "ENST00000938717.1",
"protein_id": "ENSP00000608776.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 170,
"cds_start": 500,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938717.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.497G>C",
"hgvs_p": "p.Cys166Ser",
"transcript": "ENST00000938723.1",
"protein_id": "ENSP00000608782.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 169,
"cds_start": 497,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938723.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.473G>C",
"hgvs_p": "p.Cys158Ser",
"transcript": "ENST00000938714.1",
"protein_id": "ENSP00000608773.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 161,
"cds_start": 473,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938714.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.473G>C",
"hgvs_p": "p.Cys158Ser",
"transcript": "ENST00000938716.1",
"protein_id": "ENSP00000608775.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 161,
"cds_start": 473,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938716.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.398G>C",
"hgvs_p": "p.Cys133Ser",
"transcript": "ENST00000886312.1",
"protein_id": "ENSP00000556371.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 136,
"cds_start": 398,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886312.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.398G>C",
"hgvs_p": "p.Cys133Ser",
"transcript": "ENST00000938722.1",
"protein_id": "ENSP00000608781.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 136,
"cds_start": 398,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938722.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "ENST00000938725.1",
"protein_id": "ENSP00000608784.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 127,
"cds_start": 371,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938725.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.332G>C",
"hgvs_p": "p.Cys111Ser",
"transcript": "ENST00000938724.1",
"protein_id": "ENSP00000608783.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 114,
"cds_start": 332,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938724.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.299G>C",
"hgvs_p": "p.Cys100Ser",
"transcript": "ENST00000938718.1",
"protein_id": "ENSP00000608777.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 103,
"cds_start": 299,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938718.1"
},
{
"aa_ref": "C",
"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": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Cys77Ser",
"transcript": "ENST00000938715.1",
"protein_id": "ENSP00000608774.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 80,
"cds_start": 230,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.79-1154C>G",
"hgvs_p": null,
"transcript": "ENST00000850855.1",
"protein_id": "ENSP00000520943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": null,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "c.257-1437C>G",
"hgvs_p": null,
"transcript": "ENST00000850857.1",
"protein_id": "ENSP00000520945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "n.2071G>C",
"hgvs_p": null,
"transcript": "ENST00000497322.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000497322.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL12",
"gene_hgnc_id": 10302,
"hgvs_c": "n.804G>C",
"hgvs_p": null,
"transcript": "ENST00000497825.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000497825.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF79",
"gene_hgnc_id": 13153,
"hgvs_c": "n.*53-618C>G",
"hgvs_p": null,
"transcript": "ENST00000612342.5",
"protein_id": "ENSP00000478201.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000612342.5"
}
],
"gene_symbol": "RPL12",
"gene_hgnc_id": 10302,
"dbsnp": "rs759435807",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7008102536201477,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.334,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8274,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.486,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000976.4",
"gene_symbol": "RPL12",
"hgnc_id": 10302,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.485G>C",
"hgvs_p": "p.Cys162Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000850855.1",
"gene_symbol": "ZNF79",
"hgnc_id": 13153,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.79-1154C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}