← Back to variant description
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-153691453-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153691453&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BS1",
"BS2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC6A8",
"hgnc_id": 11055,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Met",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_005629.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BS1,BS2,BP4",
"acmg_score": -9,
"allele_count_reference_population": 68,
"alphamissense_prediction": null,
"alphamissense_score": 0.1356,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "X",
"clinvar_classification": "Benign",
"clinvar_disease": "Creatine transporter deficiency,Inborn genetic diseases,not provided",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:1 LB:2 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.126259446144104,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 635,
"aa_ref": "V",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1908,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005629.4",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000253122.10",
"protein_coding": true,
"protein_id": "NP_005620.1",
"strand": true,
"transcript": "NM_005629.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 635,
"aa_ref": "V",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1908,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000253122.10",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005629.4",
"protein_coding": true,
"protein_id": "ENSP00000253122.5",
"strand": true,
"transcript": "ENST00000253122.10",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 634,
"aa_ref": "V",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3920,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1905,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000955775.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625834.1",
"strand": true,
"transcript": "ENST00000955775.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 632,
"aa_ref": "V",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1899,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922630.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592689.1",
"strand": true,
"transcript": "ENST00000922630.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 625,
"aa_ref": "V",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1878,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001142805.2",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136277.1",
"strand": true,
"transcript": "NM_001142805.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 619,
"aa_ref": "V",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3879,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1860,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922632.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592691.1",
"strand": true,
"transcript": "ENST00000922632.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 598,
"aa_ref": "V",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2638,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1797,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922633.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Val161Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592692.1",
"strand": true,
"transcript": "ENST00000922633.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 589,
"aa_ref": "V",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3792,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1770,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922631.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592690.1",
"strand": true,
"transcript": "ENST00000922631.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 1749,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000955776.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625835.1",
"strand": true,
"transcript": "ENST00000955776.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 520,
"aa_ref": "V",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 371,
"cds_end": null,
"cds_length": 1563,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001142806.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Val67Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136278.1",
"strand": true,
"transcript": "NM_001142806.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 520,
"aa_ref": "V",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1563,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000430077.6",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Val67Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403041.2",
"strand": true,
"transcript": "ENST00000430077.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 544,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000466243.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "n.336G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000466243.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 308,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000467402.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "n.91G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467402.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675713.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "n.298G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675713.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 110,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 334,
"cdna_start": null,
"cds_end": null,
"cds_length": 333,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429147.1",
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"hgvs_c": "c.-9G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404046.1",
"strand": true,
"transcript": "ENST00000429147.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs149024147",
"effect": "missense_variant",
"frequency_reference_population": 0.0000561601,
"gene_hgnc_id": 11055,
"gene_symbol": "SLC6A8",
"gnomad_exomes_ac": 34,
"gnomad_exomes_af": 0.0000309769,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 34,
"gnomad_genomes_af": 0.000300268,
"gnomad_genomes_homalt": 1,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 26,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "Creatine transporter deficiency|not provided|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.429,
"pos": 153691453,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.184,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005629.4"
}
]
}