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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: X-151923719-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=151923719&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 151923719,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002362.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_001011548.1",
"protein_id": "NP_001011548.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276344.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011548.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000276344.6",
"protein_id": "ENSP00000276344.2",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001011548.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276344.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000360243.6",
"protein_id": "ENSP00000353379.2",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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": "ENST00000360243.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000370335.5",
"protein_id": "ENSP00000359360.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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": "ENST00000370335.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_001011549.1",
"protein_id": "NP_001011549.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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_001011549.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_001011550.1",
"protein_id": "NP_001011550.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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_001011550.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_001386196.1",
"protein_id": "NP_001373125.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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_001386196.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_001386197.1",
"protein_id": "NP_001373126.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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_001386197.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_001386198.1",
"protein_id": "NP_001373127.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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_001386198.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_001386199.1",
"protein_id": "NP_001373128.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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_001386199.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_001386200.1",
"protein_id": "NP_001373129.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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_001386200.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_001386202.1",
"protein_id": "NP_001373131.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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_001386202.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_001386203.1",
"protein_id": "NP_001373132.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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_001386203.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "NM_002362.4",
"protein_id": "NP_002353.3",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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_002362.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000370340.7",
"protein_id": "ENSP00000359365.3",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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": "ENST00000370340.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000393920.6",
"protein_id": "ENSP00000377497.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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": "ENST00000393920.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000393921.6",
"protein_id": "ENSP00000377498.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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": "ENST00000393921.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000430273.6",
"protein_id": "ENSP00000394149.2",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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": "ENST00000430273.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000457310.6",
"protein_id": "ENSP00000402186.2",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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": "ENST00000457310.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000682265.1",
"protein_id": "ENSP00000506838.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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": "ENST00000682265.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000684668.1",
"protein_id": "ENSP00000507023.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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": "ENST00000684668.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000911914.1",
"protein_id": "ENSP00000581973.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 55,
"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": "ENST00000911914.1"
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"gene_symbol": "MAGEA4",
"gene_hgnc_id": 6802,
"dbsnp": "rs147367105",
"frequency_reference_population": 0.00027371658,
"hom_count_reference_population": 110,
"allele_count_reference_population": 331,
"gnomad_exomes_af": 0.000278783,
"gnomad_genomes_af": 0.000223906,
"gnomad_exomes_ac": 306,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03758794069290161,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0635,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.33,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002362.4",
"gene_symbol": "MAGEA4",
"hgnc_id": 6802,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu"
}
],
"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
}