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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: 17-6702972-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=6702972&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 6702972,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000433363.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.714C>A",
"hgvs_p": "p.Asn238Lys",
"transcript": "NM_177550.5",
"protein_id": "NP_808218.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 568,
"cds_start": 714,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": "ENST00000433363.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.714C>A",
"hgvs_p": "p.Asn238Lys",
"transcript": "ENST00000433363.7",
"protein_id": "ENSP00000406220.2",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 568,
"cds_start": 714,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": "NM_177550.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.714C>A",
"hgvs_p": "p.Asn238Lys",
"transcript": "ENST00000573648.5",
"protein_id": "ENSP00000459372.1",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 522,
"cds_start": 714,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.663C>A",
"hgvs_p": "p.Asn221Lys",
"transcript": "NM_001284509.2",
"protein_id": "NP_001271438.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 551,
"cds_start": 663,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.663C>A",
"hgvs_p": "p.Asn221Lys",
"transcript": "ENST00000293800.10",
"protein_id": "ENSP00000293800.6",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 551,
"cds_start": 663,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Asn195Lys",
"transcript": "NM_001284510.2",
"protein_id": "NP_001271439.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 525,
"cds_start": 585,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Asn195Lys",
"transcript": "ENST00000381074.8",
"protein_id": "ENSP00000370464.4",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 525,
"cds_start": 585,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.714C>A",
"hgvs_p": "p.Asn238Lys",
"transcript": "NM_001143838.3",
"protein_id": "NP_001137310.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 522,
"cds_start": 714,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.714C>A",
"hgvs_p": "p.Asn238Lys",
"transcript": "XM_011523795.4",
"protein_id": "XP_011522097.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 498,
"cds_start": 714,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "n.*464C>A",
"hgvs_p": null,
"transcript": "ENST00000572094.1",
"protein_id": "ENSP00000461495.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "n.1847C>A",
"hgvs_p": null,
"transcript": "ENST00000574824.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "n.*464C>A",
"hgvs_p": null,
"transcript": "ENST00000572094.1",
"protein_id": "ENSP00000461495.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"hgvs_c": "c.*101C>A",
"hgvs_p": null,
"transcript": "ENST00000572352.5",
"protein_id": "ENSP00000461622.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": -4,
"cds_end": null,
"cds_length": 502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC13A5",
"gene_hgnc_id": 23089,
"dbsnp": "rs754553205",
"frequency_reference_population": 0.000004337497,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342089,
"gnomad_genomes_af": 0.0000131384,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09426316618919373,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03400000184774399,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.1035,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.517,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000441830988718994,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000433363.7",
"gene_symbol": "SLC13A5",
"hgnc_id": 23089,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.714C>A",
"hgvs_p": "p.Asn238Lys"
}
],
"clinvar_disease": " 25,Developmental and epileptic encephalopathy,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Developmental and epileptic encephalopathy, 25|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}