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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: 5-1053470-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=1053470&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 1053470,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006598.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3039C>G",
"hgvs_p": "p.Asn1013Lys",
"transcript": "NM_006598.3",
"protein_id": "NP_006589.2",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3039,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": "ENST00000264930.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006598.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3039C>G",
"hgvs_p": "p.Asn1013Lys",
"transcript": "ENST00000264930.10",
"protein_id": "ENSP00000264930.5",
"transcript_support_level": 1,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3039,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": "NM_006598.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264930.10"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2754C>G",
"hgvs_p": "p.Asn918Lys",
"transcript": "ENST00000634447.1",
"protein_id": "ENSP00000489285.1",
"transcript_support_level": 5,
"aa_start": 918,
"aa_end": null,
"aa_length": 988,
"cds_start": 2754,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634447.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3156C>G",
"hgvs_p": "p.Asn1052Lys",
"transcript": "ENST00000945163.1",
"protein_id": "ENSP00000615222.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1122,
"cds_start": 3156,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 3157,
"cdna_end": null,
"cdna_length": 5343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945163.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3108C>G",
"hgvs_p": "p.Asn1036Lys",
"transcript": "ENST00000851006.1",
"protein_id": "ENSP00000521081.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3108,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 3158,
"cdna_end": null,
"cdna_length": 5347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851006.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3054C>G",
"hgvs_p": "p.Asn1018Lys",
"transcript": "ENST00000922388.1",
"protein_id": "ENSP00000592447.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 3131,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922388.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3123C>G",
"hgvs_p": "p.Asn1041Lys",
"transcript": "XM_011513941.3",
"protein_id": "XP_011512243.2",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3123,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 3156,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513941.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3054C>G",
"hgvs_p": "p.Asn1018Lys",
"transcript": "XM_005248231.4",
"protein_id": "XP_005248288.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248231.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3045C>G",
"hgvs_p": "p.Asn1015Lys",
"transcript": "XM_011513939.4",
"protein_id": "XP_011512241.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1085,
"cds_start": 3045,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 5306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513939.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.3012C>G",
"hgvs_p": "p.Asn1004Lys",
"transcript": "XM_011513940.3",
"protein_id": "XP_011512242.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1074,
"cds_start": 3012,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 5998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513940.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2850C>G",
"hgvs_p": "p.Asn950Lys",
"transcript": "XM_017008958.2",
"protein_id": "XP_016864447.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 3422,
"cdna_end": null,
"cdna_length": 5611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008958.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.2850C>G",
"hgvs_p": "p.Asn950Lys",
"transcript": "XM_047416640.1",
"protein_id": "XP_047272596.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 5201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416640.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"hgvs_c": "c.1397-1019C>G",
"hgvs_p": null,
"transcript": "ENST00000902220.1",
"protein_id": "ENSP00000572279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902220.1"
}
],
"gene_symbol": "SLC12A7",
"gene_hgnc_id": 10915,
"dbsnp": "rs148589244",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8007184267044067,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.178,
"revel_prediction": "Benign",
"alphamissense_score": 0.909,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.736,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006598.3",
"gene_symbol": "SLC12A7",
"hgnc_id": 10915,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3039C>G",
"hgvs_p": "p.Asn1013Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}