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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-152868898-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=152868898&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 152868898,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015922.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "NM_015922.3",
"protein_id": "NP_057006.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370274.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015922.3"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000370274.8",
"protein_id": "ENSP00000359297.3",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015922.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370274.8"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.940T>A",
"hgvs_p": "p.Tyr314Asn",
"transcript": "ENST00000915682.1",
"protein_id": "ENSP00000585741.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 385,
"cds_start": 940,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915682.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "NM_001129765.2",
"protein_id": "NP_001123237.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129765.2"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "NM_001441099.1",
"protein_id": "NP_001428028.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441099.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000440023.5",
"protein_id": "ENSP00000391854.1",
"transcript_support_level": 5,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440023.5"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000881877.1",
"protein_id": "ENSP00000551936.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881877.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000881880.1",
"protein_id": "ENSP00000551939.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881880.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000881881.1",
"protein_id": "ENSP00000551940.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881881.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000881882.1",
"protein_id": "ENSP00000551941.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881882.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000881883.1",
"protein_id": "ENSP00000551942.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881883.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000881884.1",
"protein_id": "ENSP00000551943.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881884.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000881885.1",
"protein_id": "ENSP00000551944.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881885.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000881886.1",
"protein_id": "ENSP00000551945.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881886.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000915680.1",
"protein_id": "ENSP00000585739.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915680.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000915681.1",
"protein_id": "ENSP00000585740.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915681.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000915684.1",
"protein_id": "ENSP00000585743.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915684.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000969426.1",
"protein_id": "ENSP00000639485.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969426.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000969428.1",
"protein_id": "ENSP00000639487.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969428.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000969429.1",
"protein_id": "ENSP00000639488.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969429.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.904T>A",
"hgvs_p": "p.Tyr302Asn",
"transcript": "ENST00000969430.1",
"protein_id": "ENSP00000639489.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 373,
"cds_start": 904,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969430.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSDHL",
"gene_hgnc_id": 13398,
"hgvs_c": "c.868T>A",
"hgvs_p": "p.Tyr290Asn",
"transcript": "ENST00000881875.1",
"protein_id": "ENSP00000551934.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 361,
"cds_start": 868,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
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{
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],
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"dbsnp": "rs782181497",
"frequency_reference_population": 9.107211e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.10721e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7532171010971069,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.544,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.544,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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,
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"pathogenic_score": 3,
"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015922.3",
"gene_symbol": "NSDHL",
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"effects": [
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],
"inheritance_mode": "XL",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}